TPD52L2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)5.71864165
2Golgi transport vesicle coating (GO:0048200)5.71864165
3ribosomal small subunit assembly (GO:0000028)4.96433408
4protein localization to endosome (GO:0036010)4.81033482
5proteasome assembly (GO:0043248)4.73113940
6DNA deamination (GO:0045006)4.72260838
7maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.27564925
8termination of RNA polymerase III transcription (GO:0006386)4.25813585
9transcription elongation from RNA polymerase III promoter (GO:0006385)4.25813585
10barbed-end actin filament capping (GO:0051016)4.25705889
11purine nucleobase biosynthetic process (GO:0009113)4.23367445
12maturation of SSU-rRNA (GO:0030490)4.22986049
13protein retention in ER lumen (GO:0006621)4.22538416
14negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.20494126
157-methylguanosine mRNA capping (GO:0006370)4.13340755
16positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.07571494
17RNA capping (GO:0036260)4.07566061
187-methylguanosine RNA capping (GO:0009452)4.07566061
19skin morphogenesis (GO:0043589)4.06610702
20regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.02888539
21nucleobase biosynthetic process (GO:0046112)4.00149227
22pinocytosis (GO:0006907)3.98461697
23anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.98386175
24cullin deneddylation (GO:0010388)3.97869466
25protein deneddylation (GO:0000338)3.90536195
26ribosome assembly (GO:0042255)3.89954856
27ribosomal small subunit biogenesis (GO:0042274)3.88088752
28negative regulation of ligase activity (GO:0051352)3.80943756
29negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.80943756
30L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.79471234
31ribosomal large subunit biogenesis (GO:0042273)3.76322846
32DNA strand elongation involved in DNA replication (GO:0006271)3.74704159
33CENP-A containing nucleosome assembly (GO:0034080)3.73746908
34rRNA modification (GO:0000154)3.68341085
35transcription-coupled nucleotide-excision repair (GO:0006283)3.67359864
36mitotic metaphase plate congression (GO:0007080)3.65894645
37telomere maintenance via semi-conservative replication (GO:0032201)3.64849037
38ribonucleoprotein complex biogenesis (GO:0022613)3.63423683
39retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.61850861
40DNA replication checkpoint (GO:0000076)3.61507115
41formation of translation preinitiation complex (GO:0001731)3.60953750
42DNA replication initiation (GO:0006270)3.58934347
43viral transcription (GO:0019083)3.58704257
44translational termination (GO:0006415)3.58105109
45DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.58037049
46positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.54988556
47DNA strand elongation (GO:0022616)3.54951089
48transcription from RNA polymerase I promoter (GO:0006360)3.53523297
49ribosome biogenesis (GO:0042254)3.52537726
50signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.52469362
51signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.52469362
52signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.52469362
53intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.51679597
54signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.51679597
55positive regulation of Cdc42 GTPase activity (GO:0043089)3.50422923
56regulation of early endosome to late endosome transport (GO:2000641)3.49983795
57chromatin remodeling at centromere (GO:0031055)3.48563266
58negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.47398596
59regulation of cellular amino acid metabolic process (GO:0006521)3.46183733
60signal transduction involved in DNA integrity checkpoint (GO:0072401)3.42672349
61signal transduction involved in DNA damage checkpoint (GO:0072422)3.42672349
62termination of RNA polymerase I transcription (GO:0006363)3.42657414
63positive regulation of ligase activity (GO:0051351)3.42549660
64SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.42244376
65stress fiber assembly (GO:0043149)3.40720146
66signal transduction involved in cell cycle checkpoint (GO:0072395)3.40536013
67cotranslational protein targeting to membrane (GO:0006613)3.38114257
68telomere maintenance via recombination (GO:0000722)3.37680409
69viral mRNA export from host cell nucleus (GO:0046784)3.37587242
70rRNA processing (GO:0006364)3.36644195
71protein maturation by protein folding (GO:0022417)3.34851512
72transcription elongation from RNA polymerase I promoter (GO:0006362)3.34568326
73protein targeting to ER (GO:0045047)3.33146858
74pentose-phosphate shunt (GO:0006098)3.31925313
75cell-substrate junction assembly (GO:0007044)3.31866967
76antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.30099271
77translational elongation (GO:0006414)3.27372887
78focal adhesion assembly (GO:0048041)3.26141216
79cell-substrate adherens junction assembly (GO:0007045)3.26141216
80RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.26033013
81tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.26033013
82basement membrane organization (GO:0071711)3.25932594
83translational initiation (GO:0006413)3.23780168
84peptidyl-histidine modification (GO:0018202)3.23426223
85spliceosomal snRNP assembly (GO:0000387)3.22253266
86rRNA metabolic process (GO:0016072)3.20608355
87adherens junction assembly (GO:0034333)3.20539522
88cell adhesion mediated by integrin (GO:0033627)3.20335110
89protein localization to endoplasmic reticulum (GO:0070972)3.20174665
90transcription elongation from RNA polymerase II promoter (GO:0006368)3.19656107
91translation (GO:0006412)3.18819118
92cellular component biogenesis (GO:0044085)3.18020845
93metaphase plate congression (GO:0051310)3.17280089
94transcription initiation from RNA polymerase I promoter (GO:0006361)3.16559268
95pseudouridine synthesis (GO:0001522)3.15776484
96establishment of protein localization to endoplasmic reticulum (GO:0072599)3.15521433
97G1/S transition of mitotic cell cycle (GO:0000082)3.14309731
98cell cycle G1/S phase transition (GO:0044843)3.14309731
99mitotic recombination (GO:0006312)3.14215427
100regulation of ubiquitin-protein transferase activity (GO:0051438)3.13455953
101deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.11763755
102hemidesmosome assembly (GO:0031581)3.07126818
103antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.06714570
104response to peptidoglycan (GO:0032494)3.05021632
105regulation of ligase activity (GO:0051340)3.04853711
106amino acid salvage (GO:0043102)3.03245690
107L-methionine salvage (GO:0071267)3.03245690
108L-methionine biosynthetic process (GO:0071265)3.03245690
109DNA replication-independent nucleosome organization (GO:0034724)3.02151557
110DNA replication-independent nucleosome assembly (GO:0006336)3.02151557
111guanosine-containing compound biosynthetic process (GO:1901070)3.00081470
112telomere maintenance via telomere lengthening (GO:0010833)2.97667890
113regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.97170546
114apoptotic cell clearance (GO:0043277)2.96759169
115rRNA methylation (GO:0031167)2.96419852
116DNA-templated transcription, elongation (GO:0006354)2.95613883
117epithelial cell-cell adhesion (GO:0090136)2.95414900
118low-density lipoprotein particle clearance (GO:0034383)2.93256954
119DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.92964328
120hypotonic response (GO:0006971)2.91717650
121deoxyribonucleotide biosynthetic process (GO:0009263)2.90470138
122NADPH regeneration (GO:0006740)2.90143944
123positive regulation of cell cycle arrest (GO:0071158)2.90107261
124establishment of chromosome localization (GO:0051303)2.89499212
125desmosome organization (GO:0002934)2.89430294
126viral life cycle (GO:0019058)2.87932251
127activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.87599923
128positive regulation of viral transcription (GO:0050434)2.87156431
129protein neddylation (GO:0045116)2.86449411
130positive regulation of receptor recycling (GO:0001921)2.86156150
131hyaluronan catabolic process (GO:0030214)2.85767517
132nucleotide-excision repair, DNA gap filling (GO:0006297)2.85296160
133glycosphingolipid catabolic process (GO:0046479)2.85087261
134glucose catabolic process (GO:0006007)2.82661555
135glucose 6-phosphate metabolic process (GO:0051156)2.82534031
136activation of Rac GTPase activity (GO:0032863)2.82486646
137positive regulation of extracellular matrix organization (GO:1903055)2.79023600
138positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.79016458
139regulation of superoxide anion generation (GO:0032928)2.76426222
140regulation of mammary gland epithelial cell proliferation (GO:0033599)2.76242120
141maternal placenta development (GO:0001893)2.75334499
142positive regulation of nuclease activity (GO:0032075)2.75150543
143peptidyl-proline hydroxylation (GO:0019511)2.74339903
144vesicle coating (GO:0006901)2.74265875
145negative regulation of erythrocyte differentiation (GO:0045647)2.69071717
146epithelial cell differentiation involved in prostate gland development (GO:0060742)2.66609416
147cellular copper ion homeostasis (GO:0006878)2.66295312
148positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.65581683
149negative regulation of protein localization to plasma membrane (GO:1903077)2.64950950
150response to laminar fluid shear stress (GO:0034616)2.64464363
151endoplasmic reticulum unfolded protein response (GO:0030968)2.63882389
152dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.61704865
153protein hydroxylation (GO:0018126)2.61696038
154membrane raft organization (GO:0031579)2.60762638
155embryonic process involved in female pregnancy (GO:0060136)2.58930215
156modulation by symbiont of host cellular process (GO:0044068)2.58548574
157proline biosynthetic process (GO:0006561)2.56697497
158cytoskeletal anchoring at plasma membrane (GO:0007016)2.51966078
159positive regulation of blood vessel endothelial cell migration (GO:0043536)2.51686807
160negative regulation of cell size (GO:0045792)2.50884557
161apoptotic process involved in morphogenesis (GO:0060561)2.49077856
162glycolipid catabolic process (GO:0019377)2.48313391
163embryo implantation (GO:0007566)2.48261207
164regulation of extracellular matrix disassembly (GO:0010715)2.46964220
165ER-nucleus signaling pathway (GO:0006984)2.46497869
166endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.45223964
167endodermal cell differentiation (GO:0035987)2.45040351
168regulation of nuclease activity (GO:0032069)2.44127712
169regulation of leukocyte degranulation (GO:0043300)2.44029478
170modulation by virus of host morphology or physiology (GO:0019048)2.41407582
171membrane protein ectodomain proteolysis (GO:0006509)2.40635489
172cellular response to unfolded protein (GO:0034620)2.40049286
173amyloid precursor protein catabolic process (GO:0042987)2.39708005
174mannose metabolic process (GO:0006013)2.39618329
175semaphorin-plexin signaling pathway (GO:0071526)2.37740666
176substrate-dependent cell migration (GO:0006929)2.37631265
177lipopolysaccharide-mediated signaling pathway (GO:0031663)2.37094935
178cortical actin cytoskeleton organization (GO:0030866)2.36149739
179vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.34539935
180negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.31010088
181actin filament bundle assembly (GO:0051017)2.30177596
182actin filament bundle organization (GO:0061572)2.30177596
183response to thyroid hormone (GO:0097066)2.29060891
184amino sugar catabolic process (GO:0046348)2.28669277
185neutrophil activation involved in immune response (GO:0002283)2.28025209
186positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.27791939
187pyrimidine nucleoside salvage (GO:0043097)2.27413367
188pyrimidine-containing compound salvage (GO:0008655)2.27413367
189regulation of defense response to virus by virus (GO:0050690)2.26695177
190negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.26509246
191positive regulation of leukocyte degranulation (GO:0043302)2.25108081
192oligosaccharide catabolic process (GO:0009313)2.24899969
193regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.24776896
194modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.24388159
195positive regulation by organism of defense response of other organism involved in symbiotic interact2.24388159
196modulation by symbiont of host immune response (GO:0052553)2.24388159
197positive regulation by symbiont of host defense response (GO:0052509)2.24388159
198modulation by symbiont of host defense response (GO:0052031)2.24388159
199modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.24388159
200modulation by virus of host process (GO:0019054)2.23004252

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.63642036
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.56501335
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.15618737
4MYC_18555785_ChIP-Seq_MESCs_Mouse4.14293700
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.04032648
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.76915771
7TP63_17297297_ChIP-ChIP_HaCaT_Human3.64378003
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.62028191
9* ETS1_20019798_ChIP-Seq_JURKAT_Human3.47047173
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.45784872
11SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.26537417
12E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.03135094
13CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.02611325
14EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.00293581
15* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.93268731
16RARG_19884340_ChIP-ChIP_MEFs_Mouse2.92737837
17HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.85353357
18NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.84128096
19* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.83317848
20* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.81652505
21VDR_23849224_ChIP-Seq_CD4+_Human2.72855774
22MYC_19079543_ChIP-ChIP_MESCs_Mouse2.71841872
23NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.70227509
24E2F4_17652178_ChIP-ChIP_JURKAT_Human2.67520743
25ELF1_17652178_ChIP-ChIP_JURKAT_Human2.61531978
26FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.56574848
27ELK3_25401928_ChIP-Seq_HUVEC_Human2.55016912
28NELFA_20434984_ChIP-Seq_ESCs_Mouse2.50664157
29SRF_21415370_ChIP-Seq_HL-1_Mouse2.42019948
30* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.41684542
31* DCP1A_22483619_ChIP-Seq_HELA_Human2.38791009
32XRN2_22483619_ChIP-Seq_HELA_Human2.33378486
33ZNF263_19887448_ChIP-Seq_K562_Human2.29268843
34THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.27332361
35CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.26294373
36ELK1_19687146_ChIP-ChIP_HELA_Human2.24409636
37LXR_22292898_ChIP-Seq_THP-1_Human2.21661204
38FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.18463732
39FOXP3_21729870_ChIP-Seq_TREG_Human2.18222282
40THAP11_20581084_ChIP-Seq_MESCs_Mouse2.14766537
41PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.13085427
42RACK7_27058665_Chip-Seq_MCF-7_Human2.10930037
43VDR_21846776_ChIP-Seq_THP-1_Human2.05915031
44* GABP_19822575_ChIP-Seq_HepG2_Human2.03841971
45* CLOCK_20551151_ChIP-Seq_293T_Human2.02510968
46PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.97721223
47PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.95993845
48TTF2_22483619_ChIP-Seq_HELA_Human1.95132189
49EGR1_19374776_ChIP-ChIP_THP-1_Human1.94679006
50MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.92365949
51YY1_21170310_ChIP-Seq_MESCs_Mouse1.90674176
52FOXM1_23109430_ChIP-Seq_U2OS_Human1.90023136
53MYC_22102868_ChIP-Seq_BL_Human1.84478155
54RBPJ_22232070_ChIP-Seq_NCS_Mouse1.81969749
55HOXB4_20404135_ChIP-ChIP_EML_Mouse1.80168268
56TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79582880
57RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.78527817
58KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.77608067
59ESR2_21235772_ChIP-Seq_MCF-7_Human1.77562702
60KDM2B_26808549_Chip-Seq_SUP-B15_Human1.76664667
61AR_21909140_ChIP-Seq_LNCAP_Human1.76584109
62KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.75578448
63* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.70774457
64SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.70399549
65YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.70270938
66DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.69106474
67NANOG_18555785_ChIP-Seq_MESCs_Mouse1.66107539
68POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.65889984
69TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.65614734
70SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.62882120
71ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.62525517
72KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.60113678
73TCF7_22412390_ChIP-Seq_EML_Mouse1.58785481
74ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.58225142
75* ATF3_27146783_Chip-Seq_COLON_Human1.53023633
76MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.49869426
77* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.49839494
78* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.49565200
79HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.48401059
80STAT6_21828071_ChIP-Seq_BEAS2B_Human1.48378517
81TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.46149397
82* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.43628133
83KDM2B_26808549_Chip-Seq_DND41_Human1.43121101
84P300_27058665_Chip-Seq_ZR-75-30cells_Human1.42951644
85HIF1A_21447827_ChIP-Seq_MCF-7_Human1.42800246
86ERG_20887958_ChIP-Seq_HPC-7_Mouse1.42734693
87MYB_21317192_ChIP-Seq_ERMYB_Mouse1.42124931
88UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.41375256
89E2F1_21310950_ChIP-Seq_MCF-7_Human1.39145583
90* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.39080660
91RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.38696970
92ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.38574061
93PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.38191461
94BRD4_27068464_Chip-Seq_AML-cells_Mouse1.37564037
95* ELK1_22589737_ChIP-Seq_MCF10A_Human1.36217402
96POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.36106123
97* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.35820938
98CIITA_25753668_ChIP-Seq_RAJI_Human1.35324366
99TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.32860939
100KDM2B_26808549_Chip-Seq_K562_Human1.31581207
101VDR_24763502_ChIP-Seq_THP-1_Human1.31084304
102CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.31030608
103ZFP281_18757296_ChIP-ChIP_E14_Mouse1.30043240
104CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.29106011
105PADI4_21655091_ChIP-ChIP_MCF-7_Human1.28213984
106* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.27908698
107TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.27350509
108* TET1_21451524_ChIP-Seq_MESCs_Mouse1.25432358
109WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.24849600
110TRIM28_21343339_ChIP-Seq_HEK293_Human1.23203410
111* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.22491379
112SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.21996096
113SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.20951008
114* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.20865825
115ESR1_21235772_ChIP-Seq_MCF-7_Human1.20603282
116* RUNX1_22412390_ChIP-Seq_EML_Mouse1.20546217
117SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.18820706
118SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.18820706
119KDM5A_27292631_Chip-Seq_BREAST_Human1.17558554
120* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.16917820
121TP53_22127205_ChIP-Seq_IMR90_Human1.16289653
122BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.15035821
123CTCF_27219007_Chip-Seq_ERYTHROID_Human1.14793669
124NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.14373494
125* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.13884626
126PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.12642816
127NCOR1_26117541_ChIP-Seq_K562_Human1.12057590
128KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.11886365
129UBF1/2_26484160_Chip-Seq_HMECs_Human1.11770810
130ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.11358253
131MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.11268436
132SOX2_18555785_ChIP-Seq_MESCs_Mouse1.10255618
133GATA1_22383799_ChIP-Seq_G1ME_Mouse1.10217657
134SOX17_20123909_ChIP-Seq_XEN_Mouse1.09853637
135SRY_22984422_ChIP-ChIP_TESTIS_Rat1.09761948
136TFEB_21752829_ChIP-Seq_HELA_Human1.09201472
137TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.09175991
138MAF_26560356_Chip-Seq_TH1_Human1.08301465
139NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.08281650
140MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.07982380
141P68_20966046_ChIP-Seq_HELA_Human1.07353379
142EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.06528145
143NOTCH1_21737748_ChIP-Seq_TLL_Human1.05622089
144RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.04886761
145SMC4_20622854_ChIP-Seq_HELA_Human1.04031356
146MYC_18940864_ChIP-ChIP_HL60_Human1.03699095
147RXR_22158963_ChIP-Seq_LIVER_Mouse1.03206548
148CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.02480568
149SA1_27219007_Chip-Seq_ERYTHROID_Human1.01489423
150* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99958798
151E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.99786055
152EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.99383257
153PPARA_22158963_ChIP-Seq_LIVER_Mouse0.99212237
154* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.98874170
155SPI1_23127762_ChIP-Seq_K562_Human0.98173924
156KDM2B_26808549_Chip-Seq_JURKAT_Human0.97539671
157P63_26484246_Chip-Seq_KERATINOCYTES_Human0.97130860
158KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.96369751
159SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.95832071
160SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.95121600
161TP63_19390658_ChIP-ChIP_HaCaT_Human0.94924649
162CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.94656214
163TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.94295432
164POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.93887528
165CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.89491931
166SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.89435319
167CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89394444
168POU5F1_16153702_ChIP-ChIP_HESCs_Human0.87395931
169KLF4_18555785_ChIP-Seq_MESCs_Mouse0.87177697
170* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.82934661
171SOX2_18692474_ChIP-Seq_MEFs_Mouse0.81729082
172HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.80887261
173NANOG_16153702_ChIP-ChIP_HESCs_Human0.80488228
174TBX5_21415370_ChIP-Seq_HL-1_Mouse0.79712509
175TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.79009608
176* SPI1_23547873_ChIP-Seq_NB4_Human0.77487217
177SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.76498716
178STAT3_1855785_ChIP-Seq_MESCs_Mouse0.76415470
179NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.76062495
180IRF1_19129219_ChIP-ChIP_H3396_Human0.73513819
181TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.73288828
182* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72469431
183TCF3_18692474_ChIP-Seq_MEFs_Mouse0.72320859
184* EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.72091028
185KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.71268550
186* SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.70337331

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.15202615
2MP0003705_abnormal_hypodermis_morpholog4.53051723
3MP0004957_abnormal_blastocyst_morpholog3.75524683
4MP0008057_abnormal_DNA_replication3.61074032
5MP0005058_abnormal_lysosome_morphology3.57173273
6MP0010094_abnormal_chromosome_stability3.35909469
7MP0003123_paternal_imprinting3.26764974
8MP0003566_abnormal_cell_adhesion3.19574913
9MP0003191_abnormal_cellular_cholesterol3.19494217
10MP0003077_abnormal_cell_cycle3.16132656
11MP0003111_abnormal_nucleus_morphology3.10992729
12MP0002877_abnormal_melanocyte_morpholog3.06075703
13MP0008058_abnormal_DNA_repair3.05081280
14MP0008007_abnormal_cellular_replicative2.87167593
15MP0008932_abnormal_embryonic_tissue2.81616284
16MP0005451_abnormal_body_composition2.68283990
17MP0003718_maternal_effect2.64376846
18MP0009840_abnormal_foam_cell2.55392728
19MP0005257_abnormal_intraocular_pressure2.25872931
20MP0000858_altered_metastatic_potential2.09608049
21MP0004272_abnormal_basement_membrane2.08302516
22MP0001849_ear_inflammation2.03865734
23MP0010234_abnormal_vibrissa_follicle2.02961474
24MP0001542_abnormal_bone_strength1.96892492
25MP0003436_decreased_susceptibility_to1.94758951
26MP0002163_abnormal_gland_morphology1.91319717
27MP0003453_abnormal_keratinocyte_physiol1.91275998
28MP0005076_abnormal_cell_differentiation1.89867609
29MP0003186_abnormal_redox_activity1.88479914
30MP0003172_abnormal_lysosome_physiology1.87577826
31MP0003136_yellow_coat_color1.87446506
32MP0005023_abnormal_wound_healing1.84200626
33MP0003806_abnormal_nucleotide_metabolis1.83626861
34MP0003786_premature_aging1.83328196
35MP0004233_abnormal_muscle_weight1.79716532
36MP0003091_abnormal_cell_migration1.75946807
37MP0003300_gastrointestinal_ulcer1.75917660
38MP0004858_abnormal_nervous_system1.75127722
39MP0002938_white_spotting1.74264897
40MP0000372_irregular_coat_pigmentation1.73185700
41MP0002796_impaired_skin_barrier1.72841380
42MP0002132_abnormal_respiratory_system1.68557539
43MP0002060_abnormal_skin_morphology1.66851906
44MP0009697_abnormal_copulation1.65307387
45MP0001958_emphysema1.55492172
46MP0003121_genomic_imprinting1.55172345
47MP0008260_abnormal_autophagy1.55027182
48MP0003315_abnormal_perineum_morphology1.54169867
49MP0008877_abnormal_DNA_methylation1.51684455
50MP0001730_embryonic_growth_arrest1.51260744
51MP0010352_gastrointestinal_tract_polyps1.50702494
52MP0000350_abnormal_cell_proliferation1.48610302
53MP0003303_peritoneal_inflammation1.48517675
54MP0003941_abnormal_skin_development1.46966082
55MP0003950_abnormal_plasma_membrane1.45568994
56MP0000566_synostosis1.42406948
57MP0003329_amyloid_beta_deposits1.39977214
58MP0003075_altered_response_to1.39336510
59MP0002160_abnormal_reproductive_system1.37207172
60MP0004947_skin_inflammation1.37177862
61MP0005409_darkened_coat_color1.35462445
62MP0004185_abnormal_adipocyte_glucose1.35430549
63MP0009333_abnormal_splenocyte_physiolog1.34876011
64MP0000343_altered_response_to1.34835161
65MP0005501_abnormal_skin_physiology1.34778854
66MP0002396_abnormal_hematopoietic_system1.31947007
67MP0004147_increased_porphyrin_level1.30484987
68MP0001533_abnormal_skeleton_physiology1.28465167
69MP0003828_pulmonary_edema1.26119617
70MP0009379_abnormal_foot_pigmentation1.25239991
71MP0005464_abnormal_platelet_physiology1.24654490
72MP0002998_abnormal_bone_remodeling1.23070754
73MP0005379_endocrine/exocrine_gland_phen1.21706506
74MP0005275_abnormal_skin_tensile1.20328829
75MP0000767_abnormal_smooth_muscle1.19774999
76MP0002210_abnormal_sex_determination1.19341282
77MP0001216_abnormal_epidermal_layer1.17045148
78MP0004264_abnormal_extraembryonic_tissu1.16410388
79MP0006054_spinal_hemorrhage1.15080222
80MP0003567_abnormal_fetal_cardiomyocyte1.14592478
81MP0003448_altered_tumor_morphology1.14326696
82MP0005623_abnormal_meninges_morphology1.13353465
83MP0009278_abnormal_bone_marrow1.13318737
84MP0000604_amyloidosis1.13044112
85MP0001293_anophthalmia1.12899601
86MP0002419_abnormal_innate_immunity1.12357914
87MP0003937_abnormal_limbs/digits/tail_de1.11922968
88MP0001672_abnormal_embryogenesis/_devel1.09511523
89MP0005380_embryogenesis_phenotype1.09511523
90MP0001915_intracranial_hemorrhage1.08704518
91MP0006292_abnormal_olfactory_placode1.05872792
92MP0002896_abnormal_bone_mineralization1.05647361
93MP0005389_reproductive_system_phenotype1.05055113
94MP0004510_myositis1.04435288
95MP0005164_abnormal_response_to1.03949213
96MP0001119_abnormal_female_reproductive1.03224334
97MP0001697_abnormal_embryo_size1.02509027
98MP0002080_prenatal_lethality1.00558451
99MP0000313_abnormal_cell_death1.00517626
100MP0008438_abnormal_cutaneous_collagen1.00050249
101MP0000751_myopathy0.99349093
102MP0003984_embryonic_growth_retardation0.98643970
103MP0006082_CNS_inflammation0.98559651
104MP0005165_increased_susceptibility_to0.98136024
105MP0009053_abnormal_anal_canal0.98117021
106MP0008789_abnormal_olfactory_epithelium0.96723829
107MP0000747_muscle_weakness0.96181814
108MP0002088_abnormal_embryonic_growth/wei0.94750306
109MP0001853_heart_inflammation0.94015240
110MP0005621_abnormal_cell_physiology0.93807262
111MP0000003_abnormal_adipose_tissue0.93733152
112MP0000733_abnormal_muscle_development0.93407151
113MP0001243_abnormal_dermal_layer0.93146344
114MP0003938_abnormal_ear_development0.92742472
115MP0000490_abnormal_crypts_of0.92360509
116MP0001905_abnormal_dopamine_level0.92105536
117MP0005503_abnormal_tendon_morphology0.91079017
118MP0002085_abnormal_embryonic_tissue0.90598670
119MP0009250_abnormal_appendicular_skeleto0.90041345
120MP0002089_abnormal_postnatal_growth/wei0.89926190
121MP0010368_abnormal_lymphatic_system0.87267460
122MP0001145_abnormal_male_reproductive0.86647657
123MP0005390_skeleton_phenotype0.86415727
124MP0000049_abnormal_middle_ear0.86392091
125MP0000653_abnormal_sex_gland0.85639464
126MP0005508_abnormal_skeleton_morphology0.85514314
127MP0003942_abnormal_urinary_system0.85513923
128MP0003878_abnormal_ear_physiology0.84321458
129MP0005377_hearing/vestibular/ear_phenot0.84321458
130MP0005375_adipose_tissue_phenotype0.84287417
131MP0000750_abnormal_muscle_regeneration0.83782796
132MP0000467_abnormal_esophagus_morphology0.83295613
133MP0010030_abnormal_orbit_morphology0.82601775
134MP0001986_abnormal_taste_sensitivity0.81301287
135MP0001348_abnormal_lacrimal_gland0.80649783
136MP0001529_abnormal_vocalization0.80214059
137MP0000678_abnormal_parathyroid_gland0.79455722
138MP0009931_abnormal_skin_appearance0.78862727
139MP0004782_abnormal_surfactant_physiolog0.78502906
140MP0000681_abnormal_thyroid_gland0.78482948
141MP0001485_abnormal_pinna_reflex0.78417061
142MP0005666_abnormal_adipose_tissue0.78254517
143MP0005025_abnormal_response_to0.77802584
144MP0002019_abnormal_tumor_incidence0.77403101
145MP0003795_abnormal_bone_structure0.76551256
146MP0003221_abnormal_cardiomyocyte_apopto0.74548539
147MP0000762_abnormal_tongue_morphology0.71682857
148MP0005395_other_phenotype0.69819288
149MP0000537_abnormal_urethra_morphology0.68861530
150MP0000759_abnormal_skeletal_muscle0.68424408
151MP0000358_abnormal_cell_content/0.67692773
152MP0010771_integument_phenotype0.67610218
153MP0003936_abnormal_reproductive_system0.67176243
154MP0003183_abnormal_peptide_metabolism0.66802367
155MP0001286_abnormal_eye_development0.66799675
156MP0003755_abnormal_palate_morphology0.66761193
157MP0002148_abnormal_hypersensitivity_rea0.66458965
158MP0002751_abnormal_autonomic_nervous0.65984600
159MP0001851_eye_inflammation0.65876880
160MP0002098_abnormal_vibrissa_morphology0.65348081
161MP0001929_abnormal_gametogenesis0.65323994
162MP0005384_cellular_phenotype0.64907937
163MP0005397_hematopoietic_system_phenotyp0.64640945
164MP0001545_abnormal_hematopoietic_system0.64640945
165MP0004134_abnormal_chest_morphology0.64151233
166MP0002127_abnormal_cardiovascular_syste0.63988382
167MP0000516_abnormal_urinary_system0.62851466
168MP0005367_renal/urinary_system_phenotyp0.62851466
169MP0002638_abnormal_pupillary_reflex0.62681040
170MP0000579_abnormal_nail_morphology0.62248464
171MP0005330_cardiomyopathy0.62128554
172MP0004197_abnormal_fetal_growth/weight/0.62115100
173MP0001614_abnormal_blood_vessel0.61833108
174MP0005408_hypopigmentation0.61692982
175MP0003279_aneurysm0.60956701
176MP0002086_abnormal_extraembryonic_tissu0.60859493
177MP0000428_abnormal_craniofacial_morphol0.60019215
178MP0005075_abnormal_melanosome_morpholog0.59345103
179MP0006036_abnormal_mitochondrial_physio0.59097036
180MP0004084_abnormal_cardiac_muscle0.58710027
181MP0001346_abnormal_lacrimal_gland0.57583396
182MP0004133_heterotaxia0.57044700

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)4.52034581
2Birth length less than 3rd percentile (HP:0003561)4.07452623
3Protrusio acetabuli (HP:0003179)4.04088191
4Vertebral compression fractures (HP:0002953)3.82201280
5Breast hypoplasia (HP:0003187)3.66269223
6Cerebral hypomyelination (HP:0006808)3.46685287
7Abnormality of cells of the erythroid lineage (HP:0012130)3.45843525
8Abnormality of glycolipid metabolism (HP:0010969)3.39886195
9Abnormality of liposaccharide metabolism (HP:0010968)3.39886195
10Abnormality of glycosphingolipid metabolism (HP:0004343)3.39886195
11Reticulocytopenia (HP:0001896)3.32635527
12Abnormal number of erythroid precursors (HP:0012131)3.27713196
13Patellar aplasia (HP:0006443)2.97338414
14Cervical subluxation (HP:0003308)2.89012127
15Increased serum pyruvate (HP:0003542)2.85085366
16Abnormality of glycolysis (HP:0004366)2.85085366
17Aplastic anemia (HP:0001915)2.82781260
18Aplasia/Hypoplasia of the patella (HP:0006498)2.81799053
19Rough bone trabeculation (HP:0100670)2.76291123
20Type I transferrin isoform profile (HP:0003642)2.76204198
21Dysostosis multiplex (HP:0000943)2.74328743
22Distal lower limb muscle weakness (HP:0009053)2.72655225
23Pancreatic fibrosis (HP:0100732)2.72414119
24Carpal bone hypoplasia (HP:0001498)2.70338629
25Cerebral aneurysm (HP:0004944)2.69333391
26Acute necrotizing encephalopathy (HP:0006965)2.69298478
27Irregular epiphyses (HP:0010582)2.65654241
28Achilles tendon contracture (HP:0001771)2.65497685
29Increased connective tissue (HP:0009025)2.65058255
30Respiratory difficulties (HP:0002880)2.62910597
31Hyperacusis (HP:0010780)2.62415859
32Mitochondrial inheritance (HP:0001427)2.62353840
33Distal lower limb amyotrophy (HP:0008944)2.59223885
34Short nail (HP:0001799)2.58086734
35Distal upper limb amyotrophy (HP:0007149)2.57593548
36Upper limb amyotrophy (HP:0009129)2.57593548
373-Methylglutaconic aciduria (HP:0003535)2.56328719
38Hepatocellular necrosis (HP:0001404)2.51796686
39Supernumerary spleens (HP:0009799)2.49392334
40Adrenal hypoplasia (HP:0000835)2.48936156
41Macrocytic anemia (HP:0001972)2.47954344
42Increased CSF lactate (HP:0002490)2.45900502
43Stenosis of the external auditory canal (HP:0000402)2.45420234
44Abnormality of the umbilical cord (HP:0010881)2.45355470
45Axonal loss (HP:0003447)2.44873785
46Atrophic scars (HP:0001075)2.43230736
47Fragile skin (HP:0001030)2.42962540
48Abnormality of the Achilles tendon (HP:0005109)2.41948893
49Myocardial infarction (HP:0001658)2.39733508
50Increased cerebral lipofuscin (HP:0011813)2.38995506
51Increased hepatocellular lipid droplets (HP:0006565)2.38779308
52Arterial tortuosity (HP:0005116)2.38720187
53Vascular tortuosity (HP:0004948)2.37580858
54Osteolytic defects of the phalanges of the hand (HP:0009771)2.37234617
55Osteolytic defects of the hand bones (HP:0009699)2.37234617
56True hermaphroditism (HP:0010459)2.37056782
57Degeneration of anterior horn cells (HP:0002398)2.35696785
58Abnormality of the anterior horn cell (HP:0006802)2.35696785
59Broad face (HP:0000283)2.34874999
60Abnormal trabecular bone morphology (HP:0100671)2.34478841
61Impulsivity (HP:0100710)2.34079662
62Selective tooth agenesis (HP:0001592)2.33388640
63Mucopolysacchariduria (HP:0008155)2.33250405
64Urinary glycosaminoglycan excretion (HP:0003541)2.33250405
65Deep venous thrombosis (HP:0002625)2.32573394
66Abnormality of macrophages (HP:0004311)2.30232605
67Oral leukoplakia (HP:0002745)2.30184747
68Spinal rigidity (HP:0003306)2.30142075
69Ankle contracture (HP:0006466)2.29657601
70Aplasia/Hypoplasia of the sacrum (HP:0008517)2.29230485
71Short middle phalanx of the 5th finger (HP:0004220)2.29203704
72Abnormality of polysaccharide metabolism (HP:0011012)2.28075587
73Abnormality of glycosaminoglycan metabolism (HP:0004371)2.28075587
74Abnormality of mucopolysaccharide metabolism (HP:0011020)2.28075587
75Hypoplastic left heart (HP:0004383)2.27461283
76Abnormal mitochondria in muscle tissue (HP:0008316)2.26206612
77Loss of speech (HP:0002371)2.25262626
78Aplasia/Hypoplasia involving the musculature (HP:0001460)2.24295847
79Hepatic necrosis (HP:0002605)2.23198945
80Increased serum lactate (HP:0002151)2.21341797
81Secondary amenorrhea (HP:0000869)2.20569317
82Abnormality of the distal phalanges of the toes (HP:0010182)2.18732367
83Flat acetabular roof (HP:0003180)2.18483453
84Colon cancer (HP:0003003)2.17899659
85Neurofibrillary tangles (HP:0002185)2.17136826
86Diastasis recti (HP:0001540)2.15822067
87Progressive macrocephaly (HP:0004481)2.15797256
88Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.14330709
89Abnormality of the columella (HP:0009929)2.14162808
90Pancreatic cysts (HP:0001737)2.13738368
91Blue sclerae (HP:0000592)2.12866060
92Nuclear cataract (HP:0100018)2.12386393
93Poor head control (HP:0002421)2.11636356
94Lipid accumulation in hepatocytes (HP:0006561)2.11487189
95Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.11320080
96Dilatation of the ascending aorta (HP:0005111)2.10088113
97Abnormality of the fetal cardiovascular system (HP:0010948)2.09651507
98Abnormal umbilical cord blood vessels (HP:0011403)2.09651507
99Single umbilical artery (HP:0001195)2.09651507
100Abnormal protein glycosylation (HP:0012346)2.09059587
101Abnormal glycosylation (HP:0012345)2.09059587
102Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.09059587
103Abnormal protein N-linked glycosylation (HP:0012347)2.09059587
104Microvesicular hepatic steatosis (HP:0001414)2.08886042
105Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.08636506
106Amyloidosis (HP:0011034)2.07499571
107Hand muscle atrophy (HP:0009130)2.07333871
108Absent radius (HP:0003974)2.07041010
109Pallor (HP:0000980)2.06771911
110Aortic dissection (HP:0002647)2.06694371
111Flat capital femoral epiphysis (HP:0003370)2.06642630
112Trismus (HP:0000211)2.06019039
113Cerebral inclusion bodies (HP:0100314)2.05018585
114Metaphyseal dysplasia (HP:0100255)2.02926237
115Sparse eyelashes (HP:0000653)2.02661718
116Nasolacrimal duct obstruction (HP:0000579)2.02210401
117Hypoplastic heart (HP:0001961)2.01294956
118Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.01224244
119Abnormal gallbladder physiology (HP:0012438)2.00015203
120Cholecystitis (HP:0001082)2.00015203
121Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.99673107
122Decreased activity of mitochondrial respiratory chain (HP:0008972)1.99673107
123Vacuolated lymphocytes (HP:0001922)1.99526760
124Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.99355153
125Microretrognathia (HP:0000308)1.98949167
126Chromsome breakage (HP:0040012)1.97638690
127Natal tooth (HP:0000695)1.97104460
128Disproportionate tall stature (HP:0001519)1.97082687
129Wormian bones (HP:0002645)1.96219027
130Acute encephalopathy (HP:0006846)1.95610861
131Premature graying of hair (HP:0002216)1.94502621
132Abnormality of the renal collecting system (HP:0004742)1.94285700
133Insomnia (HP:0100785)1.94185610
134Abnormality of the phalanges of the 5th finger (HP:0004213)1.93664739
135Meckel diverticulum (HP:0002245)1.93648875
136Thin bony cortex (HP:0002753)1.93415263
137Renal Fanconi syndrome (HP:0001994)1.93117077
138Centrally nucleated skeletal muscle fibers (HP:0003687)1.92691981
139Prolonged neonatal jaundice (HP:0006579)1.92467441
140Generalized amyotrophy (HP:0003700)1.91594749
141Asymmetry of the thorax (HP:0001555)1.91359087
142Aneurysm (HP:0002617)1.91091723
143Aplasia/hypoplasia of the uterus (HP:0008684)1.90970286
144Mitral regurgitation (HP:0001653)1.90685197
145Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.90420300
146Abnormalities of placenta or umbilical cord (HP:0001194)1.90052302
147Patent foramen ovale (HP:0001655)1.89644782
148Eczematoid dermatitis (HP:0000976)1.89495018
149Aplasia involving forearm bones (HP:0009822)1.88905407
150Absent forearm bone (HP:0003953)1.88905407
151Elbow flexion contracture (HP:0002987)1.88432681
152Peritonitis (HP:0002586)1.88375031
153Long palpebral fissure (HP:0000637)1.88296569
154Type 2 muscle fiber atrophy (HP:0003554)1.88261480
155Postnatal microcephaly (HP:0005484)1.87933547
156Ureteral duplication (HP:0000073)1.86475291
157Abnormal lung lobation (HP:0002101)1.86271388
158J-shaped sella turcica (HP:0002680)1.85594004
159Mildly elevated creatine phosphokinase (HP:0008180)1.85590005
160Biconcave vertebral bodies (HP:0004586)1.85567547
161Upper motor neuron abnormality (HP:0002127)1.85424061
162Difficulty climbing stairs (HP:0003551)1.85297171
163Abnormality of the proximal phalanges of the hand (HP:0009834)1.84906110
164Ulnar bowing (HP:0003031)1.84368651
165Bladder diverticulum (HP:0000015)1.84286699
166Increased neuronal autofluorescent lipopigment (HP:0002074)1.82978484
167Abnormality of carpal bone ossification (HP:0006257)1.82945186
168Mitral stenosis (HP:0001718)1.82877221
169Hypoplasia of the uterus (HP:0000013)1.82134053
170Muscle fiber atrophy (HP:0100295)1.81245229
171Interstitial pulmonary disease (HP:0006530)1.80102251
172CNS hypomyelination (HP:0003429)1.79978736
173Triphalangeal thumb (HP:0001199)1.79964300
174Exercise intolerance (HP:0003546)1.79959535
175Abnormality of the ileum (HP:0001549)1.79290692
176Respiratory failure (HP:0002878)1.78976045
177Horseshoe kidney (HP:0000085)1.78875397
178Shallow orbits (HP:0000586)1.78546417
179Lower limb amyotrophy (HP:0007210)1.78081330
180Abnormality of the acetabulum (HP:0003170)1.77883381
181Abnormal ossification of hand bones (HP:0005921)1.76855727
182Bone pain (HP:0002653)1.76362400
183Hemorrhage of the eye (HP:0011885)1.76257981
184Pathologic fracture (HP:0002756)1.74974159
185Aortic aneurysm (HP:0004942)1.74797206
186Spinal cord lesions (HP:0100561)1.74681446
187Syringomyelia (HP:0003396)1.74681446
188Back pain (HP:0003418)1.73013888
189Apathy (HP:0000741)1.72916825
190Supranuclear gaze palsy (HP:0000605)1.72674733
191Abnormality of oral frenula (HP:0000190)1.71315638
192Increased variability in muscle fiber diameter (HP:0003557)1.70372075
193Ankyloglossia (HP:0010296)1.70112583
194Spondylolisthesis (HP:0003302)1.70082623
195Diminished motivation (HP:0000745)1.69808730
196Neuronal loss in central nervous system (HP:0002529)1.69529636
197Advanced eruption of teeth (HP:0006288)1.68405336
198Abnormality of skeletal muscle fiber size (HP:0012084)1.67932907
199Abnormality of dentin (HP:0010299)1.64613749
200Recurrent abscess formation (HP:0002722)1.63784775

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.65924454
2TRIB33.67060271
3WEE13.61954853
4ERN13.03863635
5EIF2AK13.02428202
6ACVR1B3.01354767
7STK162.98276992
8PRPF4B2.77092947
9PLK42.66545023
10NME22.57903345
11SRPK12.53779759
12SIK12.41283438
13SMG12.38319608
14TSSK62.34196849
15ICK2.20040954
16EIF2AK32.18833936
17BRSK22.17562206
18ZAK2.02343594
19MST1R1.97858033
20PDGFRA1.94801107
21PIM21.94282403
22VRK11.93516536
23MAP2K31.90163762
24RIPK11.85977309
25PBK1.83374813
26TTN1.81123321
27EPHB11.72314250
28PLK31.66679948
29PTK21.66379827
30MKNK11.62363255
31CDC71.61288580
32EPHA21.60488311
33PLK11.57284070
34DYRK31.56576976
35LATS21.51961344
36STK38L1.49118487
37SCYL21.48176492
38FGFR41.46907839
39IRAK31.42637894
40PKN21.41137604
41KSR21.35882374
42AKT31.35516425
43TTK1.35431574
44MUSK1.31027133
45MST41.30768748
46RPS6KB21.26845166
47BMPR1B1.25103198
48EEF2K1.24508094
49BRAF1.24434451
50ARAF1.24172762
51NEK91.23291714
52DYRK21.22069365
53TGFBR21.21578437
54CDK121.20400908
55TESK21.19439885
56AURKB1.19140514
57NUAK11.17781939
58LMTK21.17363250
59BRSK11.14420053
60BCR1.13486190
61SIK31.13407251
62PTK61.12838320
63TGFBR11.11570809
64MKNK21.09718986
65CDK81.08923106
66PASK1.03909543
67DDR21.03185227
68AURKA1.02888932
69NTRK11.02659559
70MAPKAPK30.99161226
71EIF2AK20.99091474
72ZAP700.98839246
73CDK70.97971006
74NEK20.97554405
75MAP3K10.95989124
76TLK10.94690406
77RPS6KA40.94576899
78LIMK10.92698661
79BMPR20.92684632
80STK240.91871626
81MAPKAPK50.90770859
82PRKD20.89466920
83TRPM70.88397675
84TAOK10.87625167
85CCNB10.86643936
86EPHB20.84357253
87CHEK20.82736190
88MAP3K130.82561289
89ATR0.82431010
90MAP3K60.82102026
91BMX0.81941528
92TBK10.81649506
93PDPK10.81116133
94TYK20.80593473
95STK380.80082695
96MTOR0.79738894
97CDC42BPA0.78917748
98ERBB30.78736009
99IRAK40.77117714
100PRKG20.76688526
101MYLK0.76197469
102RIPK40.74859178
103ILK0.74523468
104LRRK20.74385371
105NEK60.73231156
106IRAK20.72824970
107OBSCN0.72815651
108ERBB40.68267152
109STK100.67820736
110PDK20.67680659
111CSNK2A10.67551323
112MAP3K20.66643223
113CSK0.66610145
114NME10.65679246
115YES10.64227395
116FGR0.64192847
117RPS6KA50.60950590
118PAK10.60526817
119RPS6KA20.59371692
120IKBKB0.58833795
121PAK20.58781265
122PIM10.58366054
123MAP3K140.56639003
124MAP3K30.52681557
125KSR10.52609394
126NEK10.52357170
127MELK0.52311250
128CSNK2A20.52050549
129MAP3K90.51979674
130STK40.51774376
131MARK20.51537821
132MOS0.51323045
133JAK30.51090825
134BLK0.50142284
135STK30.49201922
136RET0.47458258
137PDGFRB0.47099179
138TAOK20.46903072
139CDK60.46713669
140CHEK10.46623768
141MAPKAPK20.45564992
142MAP3K80.45024278
143ABL20.43460561
144MET0.42738005
145MAPK110.41013094
146FLT30.40948355
147CASK0.39283580
148STK390.36694368
149CSNK1G30.35915603
150CLK10.35674858
151PRKD30.35364058
152PRKCI0.34337218
153BCKDK0.34318667
154ALK0.34194730
155TESK10.34040620
156ATM0.33851494
157TIE10.33706372
158ROCK20.33531636
159KDR0.33440300
160RAF10.33193111
161LATS10.32285086
162MAP3K120.31619951
163CSF1R0.31357993
164CDK40.31193198
165RPS6KC10.31010773
166RPS6KL10.31010773
167PAK40.30921527
168DYRK1B0.30893283
169OXSR10.30706420
170CDK30.29823029
171MAP3K110.28732949

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.53082692
2RNA polymerase_Homo sapiens_hsa030204.10879246
3Ribosome_Homo sapiens_hsa030103.89209068
4DNA replication_Homo sapiens_hsa030303.69034012
5Mismatch repair_Homo sapiens_hsa034303.20006169
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.19900634
7Base excision repair_Homo sapiens_hsa034102.77573909
8Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.71510984
9Nucleotide excision repair_Homo sapiens_hsa034202.70888514
10Spliceosome_Homo sapiens_hsa030402.60192754
11Pyrimidine metabolism_Homo sapiens_hsa002402.59838068
12Homologous recombination_Homo sapiens_hsa034402.57489852
13Glycosaminoglycan degradation_Homo sapiens_hsa005312.46345272
14Protein export_Homo sapiens_hsa030602.42808491
15Basal transcription factors_Homo sapiens_hsa030222.31929443
16RNA transport_Homo sapiens_hsa030132.31720181
17Cell cycle_Homo sapiens_hsa041102.23375632
18Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.21393846
19Bladder cancer_Homo sapiens_hsa052192.04706915
20Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.01640378
21Lysosome_Homo sapiens_hsa041421.99769962
22Chronic myeloid leukemia_Homo sapiens_hsa052201.83668776
23Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.83080894
24Central carbon metabolism in cancer_Homo sapiens_hsa052301.71102401
25Galactose metabolism_Homo sapiens_hsa000521.70057052
26Non-homologous end-joining_Homo sapiens_hsa034501.69509342
27Oxidative phosphorylation_Homo sapiens_hsa001901.69475028
28RNA degradation_Homo sapiens_hsa030181.67134562
29Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.64169125
30Vitamin B6 metabolism_Homo sapiens_hsa007501.63527512
31Purine metabolism_Homo sapiens_hsa002301.63471233
32Fanconi anemia pathway_Homo sapiens_hsa034601.58140662
33Acute myeloid leukemia_Homo sapiens_hsa052211.56145648
34Pancreatic cancer_Homo sapiens_hsa052121.54587561
35Parkinsons disease_Homo sapiens_hsa050121.54320081
36Prion diseases_Homo sapiens_hsa050201.53109140
37Folate biosynthesis_Homo sapiens_hsa007901.45759857
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.45039080
39Salmonella infection_Homo sapiens_hsa051321.43142991
40Non-small cell lung cancer_Homo sapiens_hsa052231.42983900
41Osteoclast differentiation_Homo sapiens_hsa043801.40319956
42Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.40094042
43One carbon pool by folate_Homo sapiens_hsa006701.38725514
44Focal adhesion_Homo sapiens_hsa045101.37951336
45Huntingtons disease_Homo sapiens_hsa050161.37880055
46VEGF signaling pathway_Homo sapiens_hsa043701.37185667
47Proteoglycans in cancer_Homo sapiens_hsa052051.35805678
48p53 signaling pathway_Homo sapiens_hsa041151.28219680
49Amoebiasis_Homo sapiens_hsa051461.27854473
50AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.26284360
51Renal cell carcinoma_Homo sapiens_hsa052111.25554933
52Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.22625925
53Leukocyte transendothelial migration_Homo sapiens_hsa046701.21129482
54Endocytosis_Homo sapiens_hsa041441.20590514
55Epstein-Barr virus infection_Homo sapiens_hsa051691.15645282
56Toll-like receptor signaling pathway_Homo sapiens_hsa046201.14737195
57Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.13134572
58Endometrial cancer_Homo sapiens_hsa052131.11585486
59Neurotrophin signaling pathway_Homo sapiens_hsa047221.08456251
60Sulfur relay system_Homo sapiens_hsa041221.06573497
61Adherens junction_Homo sapiens_hsa045201.06070118
62Notch signaling pathway_Homo sapiens_hsa043301.05895956
63Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.05109716
64Arachidonic acid metabolism_Homo sapiens_hsa005901.04211111
65Steroid biosynthesis_Homo sapiens_hsa001001.02582423
66Hepatitis C_Homo sapiens_hsa051600.98140643
67Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97293632
68Regulation of actin cytoskeleton_Homo sapiens_hsa048100.96247332
69TNF signaling pathway_Homo sapiens_hsa046680.94786925
70Hepatitis B_Homo sapiens_hsa051610.94572936
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.94359856
72Toxoplasmosis_Homo sapiens_hsa051450.93758224
73Glioma_Homo sapiens_hsa052140.93720895
74Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.92650687
75Tuberculosis_Homo sapiens_hsa051520.92090017
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.90225698
77Pertussis_Homo sapiens_hsa051330.90127076
78Insulin signaling pathway_Homo sapiens_hsa049100.89759703
79Leishmaniasis_Homo sapiens_hsa051400.88940332
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.88515192
81Regulation of autophagy_Homo sapiens_hsa041400.88033801
82ErbB signaling pathway_Homo sapiens_hsa040120.87322156
83HIF-1 signaling pathway_Homo sapiens_hsa040660.86747753
84Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.82301186
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.80609445
86mRNA surveillance pathway_Homo sapiens_hsa030150.80603335
87B cell receptor signaling pathway_Homo sapiens_hsa046620.78734391
88Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.76128968
89Alzheimers disease_Homo sapiens_hsa050100.75988860
90Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.73918619
91Glutathione metabolism_Homo sapiens_hsa004800.73549985
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.73430651
93Influenza A_Homo sapiens_hsa051640.73176531
94Carbon metabolism_Homo sapiens_hsa012000.73171951
95Pentose phosphate pathway_Homo sapiens_hsa000300.72992363
96Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.71225417
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.71119830
98GnRH signaling pathway_Homo sapiens_hsa049120.70079981
99Phospholipase D signaling pathway_Homo sapiens_hsa040720.68750394
100Sphingolipid metabolism_Homo sapiens_hsa006000.68125527
101Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.68066076
102Ether lipid metabolism_Homo sapiens_hsa005650.67121410
103Adipocytokine signaling pathway_Homo sapiens_hsa049200.67001440
104Complement and coagulation cascades_Homo sapiens_hsa046100.66912585
105mTOR signaling pathway_Homo sapiens_hsa041500.66238201
106Herpes simplex infection_Homo sapiens_hsa051680.66229038
107Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.65996958
108Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.63597374
109Estrogen signaling pathway_Homo sapiens_hsa049150.63222688
110Fatty acid elongation_Homo sapiens_hsa000620.61096920
111AMPK signaling pathway_Homo sapiens_hsa041520.59549928
112TGF-beta signaling pathway_Homo sapiens_hsa043500.59302732
113Cysteine and methionine metabolism_Homo sapiens_hsa002700.57884934
114Oocyte meiosis_Homo sapiens_hsa041140.57186515
115Prolactin signaling pathway_Homo sapiens_hsa049170.57050667
116Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55327118
117Insulin resistance_Homo sapiens_hsa049310.53951373
118Legionellosis_Homo sapiens_hsa051340.53656625
119Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.53489621
120Viral carcinogenesis_Homo sapiens_hsa052030.53476517
121Metabolic pathways_Homo sapiens_hsa011000.53305371
122Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49805236
123Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.49584602
124Colorectal cancer_Homo sapiens_hsa052100.48632646
125Allograft rejection_Homo sapiens_hsa053300.48116607
126Choline metabolism in cancer_Homo sapiens_hsa052310.47381011
127Chemokine signaling pathway_Homo sapiens_hsa040620.47356355
128Staphylococcus aureus infection_Homo sapiens_hsa051500.47256143
129Autoimmune thyroid disease_Homo sapiens_hsa053200.46202348
130Rap1 signaling pathway_Homo sapiens_hsa040150.44617182
131RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.44531551
132Systemic lupus erythematosus_Homo sapiens_hsa053220.42592564
133Linoleic acid metabolism_Homo sapiens_hsa005910.42454126
134Fructose and mannose metabolism_Homo sapiens_hsa000510.41885965
135Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.37872316
136Drug metabolism - other enzymes_Homo sapiens_hsa009830.37178691
137Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.36711946
138Antigen processing and presentation_Homo sapiens_hsa046120.36309175
139HTLV-I infection_Homo sapiens_hsa051660.36018040
140N-Glycan biosynthesis_Homo sapiens_hsa005100.35824920
141Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.34427880
142Vibrio cholerae infection_Homo sapiens_hsa051100.33111297
143Thyroid cancer_Homo sapiens_hsa052160.30423210
144Arginine and proline metabolism_Homo sapiens_hsa003300.30355567
145Hippo signaling pathway_Homo sapiens_hsa043900.28761679
146Apoptosis_Homo sapiens_hsa042100.28180093
147Small cell lung cancer_Homo sapiens_hsa052220.27630745
148NOD-like receptor signaling pathway_Homo sapiens_hsa046210.26972959
149Shigellosis_Homo sapiens_hsa051310.26571691
150Rheumatoid arthritis_Homo sapiens_hsa053230.26424394
151Intestinal immune network for IgA production_Homo sapiens_hsa046720.24795817
152Biosynthesis of amino acids_Homo sapiens_hsa012300.22537514
153Malaria_Homo sapiens_hsa051440.20650530
154PI3K-Akt signaling pathway_Homo sapiens_hsa041510.20611909
155alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.20316738
156Asthma_Homo sapiens_hsa053100.19797280
157Other glycan degradation_Homo sapiens_hsa005110.19703065
158Tight junction_Homo sapiens_hsa045300.19700824
159Transcriptional misregulation in cancer_Homo sapiens_hsa052020.19322824
160Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.18994787
161Pathways in cancer_Homo sapiens_hsa052000.17479425
162Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.17374486
163Hedgehog signaling pathway_Homo sapiens_hsa043400.17093723
164NF-kappa B signaling pathway_Homo sapiens_hsa040640.17089857
165Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.15321480
166MicroRNAs in cancer_Homo sapiens_hsa052060.15291808
167Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.14714139
168Measles_Homo sapiens_hsa051620.12927604
169Phagosome_Homo sapiens_hsa041450.12588738
170ECM-receptor interaction_Homo sapiens_hsa045120.12423693
171Prostate cancer_Homo sapiens_hsa052150.12291457
172Graft-versus-host disease_Homo sapiens_hsa053320.11778405

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