FAM57A

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: The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fatty acid elongation (GO:0030497)9.08775765
2long-chain fatty acid biosynthetic process (GO:0042759)8.03114612
3axon ensheathment (GO:0008366)6.69593381
4ensheathment of neurons (GO:0007272)6.69593381
5myelination (GO:0042552)6.64907933
6desmosome organization (GO:0002934)5.70248050
7keratinization (GO:0031424)5.27415891
8cholesterol biosynthetic process (GO:0006695)4.90935952
9long-chain fatty-acyl-CoA metabolic process (GO:0035336)4.81115810
10myelin maintenance (GO:0043217)4.67242357
11negative regulation of neurotransmitter secretion (GO:0046929)4.56708627
12long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)4.40442017
13sterol biosynthetic process (GO:0016126)4.37092511
14apical protein localization (GO:0045176)4.36240728
15sphingoid metabolic process (GO:0046519)4.23256334
16regulation of collateral sprouting (GO:0048670)4.22782633
17adhesion of symbiont to host cell (GO:0044650)4.19035643
18virion attachment to host cell (GO:0019062)4.19035643
19negative regulation of neurotransmitter transport (GO:0051589)4.18856663
20sphingosine metabolic process (GO:0006670)4.11911200
21fatty-acyl-CoA metabolic process (GO:0035337)4.06658406
22astrocyte development (GO:0014002)4.03722606
23asymmetric protein localization (GO:0008105)4.02845345
24negative regulation of protein localization to cell surface (GO:2000009)3.96580290
25establishment of skin barrier (GO:0061436)3.93416998
26eye photoreceptor cell differentiation (GO:0001754)3.88641889
27photoreceptor cell differentiation (GO:0046530)3.88641889
28amyloid precursor protein metabolic process (GO:0042982)3.87476889
29oligodendrocyte differentiation (GO:0048709)3.86053139
30maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.81852790
31peripheral nervous system axon ensheathment (GO:0032292)3.79191059
32myelination in peripheral nervous system (GO:0022011)3.79191059
33skin morphogenesis (GO:0043589)3.76400083
34fatty-acyl-CoA biosynthetic process (GO:0046949)3.75330415
35heterochromatin organization (GO:0070828)3.74956773
36planar cell polarity pathway involved in neural tube closure (GO:0090179)3.74926473
37creatine metabolic process (GO:0006600)3.74922174
38peptidyl-tyrosine autophosphorylation (GO:0038083)3.74874600
39protein retention in ER lumen (GO:0006621)3.74154384
40establishment of mitochondrion localization (GO:0051654)3.71002957
41diol metabolic process (GO:0034311)3.69027408
42isoprenoid biosynthetic process (GO:0008299)3.68380624
43protein localization to endosome (GO:0036010)3.60947499
44regulation of water loss via skin (GO:0033561)3.59841477
45substantia nigra development (GO:0021762)3.55289606
46response to methylmercury (GO:0051597)3.51556474
47positive regulation of oligodendrocyte differentiation (GO:0048714)3.51479094
48ribosomal small subunit biogenesis (GO:0042274)3.45480779
49L-serine metabolic process (GO:0006563)3.40703713
50GDP-mannose metabolic process (GO:0019673)3.40326184
51regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.40293902
52COPI coating of Golgi vesicle (GO:0048205)3.38275787
53Golgi transport vesicle coating (GO:0048200)3.38275787
54proline biosynthetic process (GO:0006561)3.33368752
55membrane tubulation (GO:0097320)3.31437420
56mitotic chromosome condensation (GO:0007076)3.30465849
57protein maturation by protein folding (GO:0022417)3.27665924
58DNA unwinding involved in DNA replication (GO:0006268)3.25690679
59phosphatidylserine acyl-chain remodeling (GO:0036150)3.25505977
60limb bud formation (GO:0060174)3.22060011
61cell-substrate junction assembly (GO:0007044)3.21944727
62paraxial mesoderm development (GO:0048339)3.16300962
63keratinocyte differentiation (GO:0030216)3.16186090
64very long-chain fatty acid metabolic process (GO:0000038)3.15935373
65GPI anchor biosynthetic process (GO:0006506)3.14850625
66regulation of mammary gland epithelial cell proliferation (GO:0033599)3.14734081
67regulation of somitogenesis (GO:0014807)3.14172534
68adhesion of symbiont to host (GO:0044406)3.13991031
69magnesium ion transport (GO:0015693)3.12130123
70nucleotide-sugar biosynthetic process (GO:0009226)3.11713502
71positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.08212362
72response to lipoprotein particle (GO:0055094)3.07221985
73positive regulation of actin filament depolymerization (GO:0030836)3.07089196
74protein palmitoylation (GO:0018345)3.05680146
75negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.03651891
76cellular protein complex localization (GO:0034629)3.02091689
77regulation of translational fidelity (GO:0006450)2.99610889
78basement membrane organization (GO:0071711)2.98079950
79presynaptic membrane organization (GO:0097090)2.95495751
80GPI anchor metabolic process (GO:0006505)2.94335391
81cell adhesion mediated by integrin (GO:0033627)2.93217512
82phosphatidylinositol acyl-chain remodeling (GO:0036149)2.92971833
83negative regulation of acute inflammatory response (GO:0002674)2.91876888
84response to redox state (GO:0051775)2.90271087
85nucleobase-containing small molecule interconversion (GO:0015949)2.89555945
86G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.88350588
87L-amino acid import (GO:0043092)2.87583919
88negative regulation of axonogenesis (GO:0050771)2.87513268
89protein complex localization (GO:0031503)2.87139618
90glycerophospholipid catabolic process (GO:0046475)2.86948349
91DNA replication checkpoint (GO:0000076)2.83156606
92dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.79710487
93phosphatidylserine metabolic process (GO:0006658)2.78413887
94maturation of SSU-rRNA (GO:0030490)2.78006242
95negative regulation of execution phase of apoptosis (GO:1900118)2.77784487
96lateral sprouting from an epithelium (GO:0060601)2.77464855
97convergent extension (GO:0060026)2.77117977
98regulation of translational termination (GO:0006449)2.76456192
99polarized epithelial cell differentiation (GO:0030859)2.76392056
100ear development (GO:0043583)2.76302570
101acyl-CoA biosynthetic process (GO:0071616)2.74924801
102thioester biosynthetic process (GO:0035384)2.74924801
103DNA strand elongation (GO:0022616)2.74114099
104protein localization to chromosome, centromeric region (GO:0071459)2.74047876
105ceramide biosynthetic process (GO:0046513)2.73985073
106Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.73113757
107cochlea morphogenesis (GO:0090103)2.72723507
108positive regulation of cellular amine metabolic process (GO:0033240)2.71833854
109DNA strand renaturation (GO:0000733)2.71482655
110epidermal cell differentiation (GO:0009913)2.71015865
111DNA strand elongation involved in DNA replication (GO:0006271)2.70703975
112establishment of apical/basal cell polarity (GO:0035089)2.70330337
113negative regulation of axon extension involved in axon guidance (GO:0048843)2.69965897
114import into cell (GO:0098657)2.69679882
115peripheral nervous system development (GO:0007422)2.69457924
116axon development (GO:0061564)2.68405674
117membrane raft organization (GO:0031579)2.67569348
118amyloid precursor protein catabolic process (GO:0042987)2.66599385
119chondrocyte proliferation (GO:0035988)2.66289598
120positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)2.65243791
121membrane lipid biosynthetic process (GO:0046467)2.65163817
122positive regulation of glial cell differentiation (GO:0045687)2.65155768
123negative regulation of chondrocyte differentiation (GO:0032331)2.65051079
124negative regulation of axon extension (GO:0030517)2.64313151
125gap junction assembly (GO:0016264)2.63770478
126regulation of lipoprotein metabolic process (GO:0050746)2.63627320
127cerebral cortex radially oriented cell migration (GO:0021799)2.63572465
128preassembly of GPI anchor in ER membrane (GO:0016254)2.63373763
129positive regulation of pseudopodium assembly (GO:0031274)2.62334611
130presynaptic membrane assembly (GO:0097105)2.61429883
131keratinocyte proliferation (GO:0043616)2.61196273
132peptide cross-linking (GO:0018149)2.60951451
133mitotic sister chromatid segregation (GO:0000070)2.60730715
134nucleotide transmembrane transport (GO:1901679)2.59936250
135establishment of planar polarity (GO:0001736)2.59280455
136establishment of tissue polarity (GO:0007164)2.59280455
137phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.58836999
138endothelial cell morphogenesis (GO:0001886)2.58346209
139endodermal cell differentiation (GO:0035987)2.57957217
140sphingolipid biosynthetic process (GO:0030148)2.57806581
141mitotic nuclear envelope reassembly (GO:0007084)2.56648522
142nuclear envelope reassembly (GO:0031468)2.56648522
143regulation of establishment of planar polarity (GO:0090175)2.56459701
144cell-substrate adherens junction assembly (GO:0007045)2.51749814
145focal adhesion assembly (GO:0048041)2.51749814
146glial cell development (GO:0021782)2.51628020
147regulation of early endosome to late endosome transport (GO:2000641)2.51217819
148regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.50612842
149mitotic metaphase plate congression (GO:0007080)2.50529813
150adherens junction assembly (GO:0034333)2.50378646
151mitotic G1 DNA damage checkpoint (GO:0031571)2.50055267
152hemidesmosome assembly (GO:0031581)2.49810965
153peptidyl-proline hydroxylation (GO:0019511)2.49063501
154peptidyl-cysteine modification (GO:0018198)2.49042919
155ribonucleoprotein complex biogenesis (GO:0022613)2.48456080
156hippo signaling (GO:0035329)2.47303944
157negative regulation of cell aging (GO:0090344)2.46014585
1584-hydroxyproline metabolic process (GO:0019471)2.45588602
159establishment of integrated proviral latency (GO:0075713)2.39977427
160ribosomal large subunit biogenesis (GO:0042273)2.39539638
161nuclear pore complex assembly (GO:0051292)2.39381204
162regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.38488928
163folic acid metabolic process (GO:0046655)2.37990391
164regulation of apoptotic process involved in morphogenesis (GO:1902337)2.35821712
165collagen fibril organization (GO:0030199)2.35781455
166telomere maintenance via semi-conservative replication (GO:0032201)2.35112009
167protein hydroxylation (GO:0018126)2.32708766
168notochord development (GO:0030903)2.31769120
169bundle of His cell to Purkinje myocyte communication (GO:0086069)2.30784429
170semaphorin-plexin signaling pathway (GO:0071526)2.30045739
171regulation of hair follicle development (GO:0051797)2.28400244
172sister chromatid segregation (GO:0000819)2.26944787
173pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.26717018
174ribosome biogenesis (GO:0042254)2.26386631
175negative regulation of keratinocyte proliferation (GO:0010839)2.26273268
176cell migration involved in sprouting angiogenesis (GO:0002042)2.25220749
177epithelial cell-cell adhesion (GO:0090136)2.24929413
178peptidyl-glutamic acid carboxylation (GO:0017187)2.24869768
179protein carboxylation (GO:0018214)2.24869768
180formation of translation preinitiation complex (GO:0001731)2.24819838
181protein localization to kinetochore (GO:0034501)2.24761472
182DNA replication initiation (GO:0006270)2.24581455
183UV protection (GO:0009650)2.23172472
184regulation of cell aging (GO:0090342)2.22770083
185protein localization to microtubule (GO:0035372)2.20747890
186proline metabolic process (GO:0006560)2.20528897
187serine family amino acid biosynthetic process (GO:0009070)2.19785211
188endocytic recycling (GO:0032456)2.18034321
189folic acid-containing compound biosynthetic process (GO:0009396)2.17530738
190mitotic G1/S transition checkpoint (GO:0044819)2.16041307
191axon ensheathment in central nervous system (GO:0032291)10.5719723
192central nervous system myelination (GO:0022010)10.5719723

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human6.89487522
2E2F7_22180533_ChIP-Seq_HELA_Human4.92830633
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.59823838
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.10729240
5SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.95140265
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.87497711
7FOXM1_23109430_ChIP-Seq_U2OS_Human2.84621505
8ZNF263_19887448_ChIP-Seq_K562_Human2.78632122
9EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.67046429
10RARG_19884340_ChIP-ChIP_MEFs_Mouse2.59447541
11AR_21909140_ChIP-Seq_LNCAP_Human2.46860492
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.43214369
13TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.27809713
14XRN2_22483619_ChIP-Seq_HELA_Human2.21028257
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.19081775
16SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.16572588
17MYC_18358816_ChIP-ChIP_MESCs_Mouse2.15674584
18DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.09665547
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.07594469
20MYC_19079543_ChIP-ChIP_MESCs_Mouse2.03310088
21PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.02307537
22SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.01434139
23TRIM28_21343339_ChIP-Seq_HEK293_Human2.01364141
24MYC_19030024_ChIP-ChIP_MESCs_Mouse2.01026201
25SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.95708450
26HIF1A_21447827_ChIP-Seq_MCF-7_Human1.94362275
27JARID2_20064375_ChIP-Seq_MESCs_Mouse1.88340437
28EED_16625203_ChIP-ChIP_MESCs_Mouse1.87911055
29SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.85874139
30AR_21572438_ChIP-Seq_LNCaP_Human1.85320506
31SUZ12_27294783_Chip-Seq_ESCs_Mouse1.83993820
32RACK7_27058665_Chip-Seq_MCF-7_Human1.81553421
33GBX2_23144817_ChIP-Seq_PC3_Human1.79624152
34RNF2_18974828_ChIP-Seq_MESCs_Mouse1.78481645
35EZH2_18974828_ChIP-Seq_MESCs_Mouse1.78481645
36SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.78340328
37NELFA_20434984_ChIP-Seq_ESCs_Mouse1.77962026
38JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.77632732
39* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.77014929
40MTF2_20144788_ChIP-Seq_MESCs_Mouse1.76940363
41* EZH2_27294783_Chip-Seq_ESCs_Mouse1.76220281
42CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.74086884
43ELK3_25401928_ChIP-Seq_HUVEC_Human1.73875695
44ZFX_18555785_ChIP-Seq_MESCs_Mouse1.71821862
45SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.71025560
46CDX2_19796622_ChIP-Seq_MESCs_Mouse1.68511411
47* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.68381722
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.67169372
49JARID2_20075857_ChIP-Seq_MESCs_Mouse1.65489086
50DCP1A_22483619_ChIP-Seq_HELA_Human1.64658740
51TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.63931563
52POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.63625352
53SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.62130458
54ATF3_27146783_Chip-Seq_COLON_Human1.61112598
55RNF2_27304074_Chip-Seq_ESCs_Mouse1.59757821
56LXR_22292898_ChIP-Seq_THP-1_Human1.59445382
57STAT6_21828071_ChIP-Seq_BEAS2B_Human1.59097427
58ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.57990184
59THAP11_20581084_ChIP-Seq_MESCs_Mouse1.57820403
60CLOCK_20551151_ChIP-Seq_293T_Human1.56854429
61KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.55125691
62E2F1_18555785_ChIP-Seq_MESCs_Mouse1.53672544
63CBX2_27304074_Chip-Seq_ESCs_Mouse1.52521717
64KLF4_18555785_ChIP-Seq_MESCs_Mouse1.51917785
65ESR2_21235772_ChIP-Seq_MCF-7_Human1.51515904
66PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.51306524
67MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.50385428
68NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.49795976
69CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.48501947
70UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.48163031
71KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.47630776
72WT1_19549856_ChIP-ChIP_CCG9911_Human1.45069108
73BMI1_23680149_ChIP-Seq_NPCS_Mouse1.44759051
74TP53_22127205_ChIP-Seq_IMR90_Human1.44652758
75VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.44387062
76POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.43086444
77NANOG_18555785_ChIP-Seq_MESCs_Mouse1.42299368
78UBF1/2_26484160_Chip-Seq_HMECs_Human1.41984612
79PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.41741496
80RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.40378336
81SOX9_24532713_ChIP-Seq_HFSC_Mouse1.39296420
82CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.38784079
83RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.37504225
84MYCN_18555785_ChIP-Seq_MESCs_Mouse1.37389623
85STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.37069739
86ZFP57_27257070_Chip-Seq_ESCs_Mouse1.35944657
87CREB1_15753290_ChIP-ChIP_HEK293T_Human1.35150733
88FOXO3_23340844_ChIP-Seq_DLD1_Human1.34848534
89TTF2_22483619_ChIP-Seq_HELA_Human1.34066478
90GABP_19822575_ChIP-Seq_HepG2_Human1.33808609
91TET1_21451524_ChIP-Seq_MESCs_Mouse1.32270731
92VDR_21846776_ChIP-Seq_THP-1_Human1.31961905
93P300_27058665_Chip-Seq_ZR-75-30cells_Human1.31765760
94HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.31559762
95E2F1_21310950_ChIP-Seq_MCF-7_Human1.31060668
96DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.30957759
97VDR_22108803_ChIP-Seq_LS180_Human1.30951092
98KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.30734974
99ZNF217_24962896_ChIP-Seq_MCF-7_Human1.30056267
100MYC_22102868_ChIP-Seq_BL_Human1.28075506
101E2F4_17652178_ChIP-ChIP_JURKAT_Human1.27762924
102ETS1_20019798_ChIP-Seq_JURKAT_Human1.27401858
103SOX2_20726797_ChIP-Seq_SW620_Human1.26018278
104SMAD3_21741376_ChIP-Seq_EPCs_Human1.25795163
105KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.25435851
106CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.24172340
107TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.23807412
108MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.23249933
109TAF15_26573619_Chip-Seq_HEK293_Human1.22920985
110ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.20696630
111CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.19841354
112CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.19679223
113ESR1_15608294_ChIP-ChIP_MCF-7_Human1.17887575
114SRY_22984422_ChIP-ChIP_TESTIS_Rat1.16633257
115DROSHA_22980978_ChIP-Seq_HELA_Human1.16392668
116KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.15150564
117EZH2_22144423_ChIP-Seq_EOC_Human1.14954087
118WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.13921923
119EP300_21415370_ChIP-Seq_HL-1_Mouse1.13302382
120SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.12536483
121ER_23166858_ChIP-Seq_MCF-7_Human1.11294273
122* TP63_23658742_ChIP-Seq_EP156T_Human1.10460978
123* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.10320649
124* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.10320649
125TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09607852
126AHR_22903824_ChIP-Seq_MCF-7_Human1.09521594
127PIAS1_25552417_ChIP-Seq_VCAP_Human1.09090254
128ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.08613739
129TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06981067
130GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.06337969
131ERG_21242973_ChIP-ChIP_JURKAT_Human1.06268114
132NRF2_20460467_ChIP-Seq_MEFs_Mouse1.04940036
133NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.04940036
134NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.03155861
135CJUN_26792858_Chip-Seq_BT549_Human1.01788507
136CHD1_26751641_Chip-Seq_LNCaP_Human1.01693440
137TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00883853
138KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.00175264
139TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.99772887
140CTCF_20526341_ChIP-Seq_ESCs_Human0.99771684
141TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.98918788
142STAT3_1855785_ChIP-Seq_MESCs_Mouse0.98630844
143NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.98102364
144WT1_25993318_ChIP-Seq_PODOCYTE_Human0.97051463
145P68_20966046_ChIP-Seq_HELA_Human0.96628062
146TBX5_21415370_ChIP-Seq_HL-1_Mouse0.96558404
147EOMES_21245162_ChIP-Seq_HESCs_Human0.96111009
148CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.95724909
149FOXP1_21924763_ChIP-Seq_HESCs_Human0.95330528
150RARA_24833708_ChIP-Seq_LIVER_Mouse0.95089503
151* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.95063029
152TP53_18474530_ChIP-ChIP_U2OS_Human0.93810704
153EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93510878
154ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.93325173
155CTBP1_25329375_ChIP-Seq_LNCAP_Human0.93166889
156GATA6_21074721_ChIP-Seq_CACO-2_Human0.93160499
157KLF5_25053715_ChIP-Seq_YYC3_Human0.92674038
158RING1B_27294783_Chip-Seq_NPCs_Mouse0.92462102
159EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.92051510
160EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.91163718
161FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.91003502
162NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.90548724
163HTT_18923047_ChIP-ChIP_STHdh_Human0.90011685
164CTBP2_25329375_ChIP-Seq_LNCAP_Human0.89810584
165LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.89729872
166SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.89283694
167ZFP281_18757296_ChIP-ChIP_E14_Mouse0.89231419
168AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.88062860
169ESR1_20079471_ChIP-ChIP_T-47D_Human0.87987698
170GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87952222
171ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.87757828
172RNF2_27304074_Chip-Seq_NSC_Mouse0.86663590
173GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.86437300
174ARNT_22903824_ChIP-Seq_MCF-7_Human0.85717428
175GATA2_21666600_ChIP-Seq_HMVEC_Human0.85614732
176PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.85138894
177TAL1_26923725_Chip-Seq_HPCs_Mouse0.84040528
178SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.82759648
179FUS_26573619_Chip-Seq_HEK293_Human0.81972042
180P53_22127205_ChIP-Seq_FIBROBLAST_Human0.81603410
181CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.80332343
182RING1B_27294783_Chip-Seq_ESCs_Mouse0.79695790
183TBL1_22424771_ChIP-Seq_293T_Human0.79298935
184CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.78944108
185TCF4_18268006_ChIP-ChIP_LS174T_Human0.78317573
186P300_19829295_ChIP-Seq_ESCs_Human0.78264591
187SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.78035337
188PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.77877826
189PHF8_20622853_ChIP-Seq_HELA_Human0.77730238
190POU3F2_20337985_ChIP-ChIP_501MEL_Human0.77259342
191POU5F1_16153702_ChIP-ChIP_HESCs_Human0.76914853

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier4.61961489
2MP0000920_abnormal_myelination4.53542954
3MP0003705_abnormal_hypodermis_morpholog4.35669825
4MP0003950_abnormal_plasma_membrane3.86833435
5MP0010678_abnormal_skin_adnexa3.42960799
6MP0000383_abnormal_hair_follicle3.31276031
7MP0005275_abnormal_skin_tensile3.14169311
8MP0005257_abnormal_intraocular_pressure3.07116069
9MP0004381_abnormal_hair_follicle3.03009687
10MP0005501_abnormal_skin_physiology3.01861417
11MP0000647_abnormal_sebaceous_gland2.65804175
12MP0004270_analgesia2.65652317
13MP0000579_abnormal_nail_morphology2.54867894
14MP0003880_abnormal_central_pattern2.52781151
15MP0005451_abnormal_body_composition2.49567243
16MP0003566_abnormal_cell_adhesion2.46597968
17MP0004885_abnormal_endolymph2.30754272
18MP0010234_abnormal_vibrissa_follicle2.30581262
19MP0003690_abnormal_glial_cell2.28818078
20MP0003329_amyloid_beta_deposits2.20192312
21MP0000566_synostosis2.15002498
22MP0010771_integument_phenotype2.10405376
23MP0003111_abnormal_nucleus_morphology2.08963522
24MP0002877_abnormal_melanocyte_morpholog2.07334890
25MP0009053_abnormal_anal_canal2.05329118
26MP0003136_yellow_coat_color2.04409589
27MP0003693_abnormal_embryo_hatching2.03110767
28MP0000467_abnormal_esophagus_morphology2.02660592
29MP0003453_abnormal_keratinocyte_physiol1.99681567
30MP0004957_abnormal_blastocyst_morpholog1.95408145
31MP0000762_abnormal_tongue_morphology1.94163822
32MP0002098_abnormal_vibrissa_morphology1.93793028
33MP0004742_abnormal_vestibular_system1.84240986
34MP0005409_darkened_coat_color1.80384861
35MP0001216_abnormal_epidermal_layer1.80089011
36MP0010352_gastrointestinal_tract_polyps1.78896570
37MP0001905_abnormal_dopamine_level1.78383550
38MP0001529_abnormal_vocalization1.76776707
39MP0001346_abnormal_lacrimal_gland1.76149775
40MP0001849_ear_inflammation1.74903579
41MP0003315_abnormal_perineum_morphology1.71680183
42MP0003634_abnormal_glial_cell1.70046020
43MP0008932_abnormal_embryonic_tissue1.69135665
44MP0002060_abnormal_skin_morphology1.67684505
45MP0005171_absent_coat_pigmentation1.64250706
46MP0004858_abnormal_nervous_system1.64241009
47MP0004142_abnormal_muscle_tone1.60215590
48MP0010368_abnormal_lymphatic_system1.58495097
49MP0000778_abnormal_nervous_system1.55967380
50MP0000377_abnormal_hair_follicle1.55597865
51MP0005023_abnormal_wound_healing1.50569105
52MP0010094_abnormal_chromosome_stability1.47916723
53MP0002272_abnormal_nervous_system1.44825239
54MP0000462_abnormal_digestive_system1.44238834
55MP0003632_abnormal_nervous_system1.42582389
56MP0003123_paternal_imprinting1.42304461
57MP0005076_abnormal_cell_differentiation1.39627633
58MP0001485_abnormal_pinna_reflex1.38312050
59MP0004272_abnormal_basement_membrane1.38129527
60MP0002697_abnormal_eye_size1.37338577
61MP0005503_abnormal_tendon_morphology1.36243050
62MP0004233_abnormal_muscle_weight1.35827521
63MP0003941_abnormal_skin_development1.35216205
64MP0001486_abnormal_startle_reflex1.34558527
65MP0001851_eye_inflammation1.33028734
66MP0004134_abnormal_chest_morphology1.32545353
67MP0003077_abnormal_cell_cycle1.28620080
68MP0005623_abnormal_meninges_morphology1.27172234
69MP0003942_abnormal_urinary_system1.26969650
70MP0003279_aneurysm1.24847255
71MP0001958_emphysema1.23711247
72MP0004185_abnormal_adipocyte_glucose1.21347922
73MP0000003_abnormal_adipose_tissue1.20761047
74MP0001299_abnormal_eye_distance/1.20001963
75MP0000427_abnormal_hair_cycle1.19787241
76MP0002229_neurodegeneration1.16911135
77MP0002064_seizures1.16414922
78MP0000534_abnormal_ureter_morphology1.15214098
79MP0000350_abnormal_cell_proliferation1.15058161
80MP0003091_abnormal_cell_migration1.14651679
81MP0000678_abnormal_parathyroid_gland1.14480040
82MP0002734_abnormal_mechanical_nocicepti1.13810800
83MP0000049_abnormal_middle_ear1.10822951
84MP0001730_embryonic_growth_arrest1.10275752
85MP0001177_atelectasis1.09539305
86MP0005197_abnormal_uvea_morphology1.07634028
87MP0008438_abnormal_cutaneous_collagen1.07633199
88MP0005410_abnormal_fertilization1.06799222
89MP0008007_abnormal_cellular_replicative1.06359725
90MP0002234_abnormal_pharynx_morphology1.06068740
91MP0002295_abnormal_pulmonary_circulatio1.05893963
92MP0001340_abnormal_eyelid_morphology1.05884290
93MP0000428_abnormal_craniofacial_morphol1.05539731
94MP0003631_nervous_system_phenotype1.02642020
95MP0003938_abnormal_ear_development1.01850237
96MP0002085_abnormal_embryonic_tissue1.01467972
97MP0001672_abnormal_embryogenesis/_devel0.98641924
98MP0005380_embryogenesis_phenotype0.98641924
99MP0000013_abnormal_adipose_tissue0.98392866
100MP0005508_abnormal_skeleton_morphology0.97636865
101MP0003937_abnormal_limbs/digits/tail_de0.97605863
102MP0009379_abnormal_foot_pigmentation0.96715055
103MP0001188_hyperpigmentation0.96152421
104MP0000537_abnormal_urethra_morphology0.96042534
105MP0002089_abnormal_postnatal_growth/wei0.95972193
106MP0002080_prenatal_lethality0.94686771
107MP0002111_abnormal_tail_morphology0.93994356
108MP0002092_abnormal_eye_morphology0.93944509
109MP0002882_abnormal_neuron_morphology0.93514526
110MP0001243_abnormal_dermal_layer0.93341316
111MP0005551_abnormal_eye_electrophysiolog0.93071712
112MP0003984_embryonic_growth_retardation0.92907199
113MP0001697_abnormal_embryo_size0.92672804
114MP0004197_abnormal_fetal_growth/weight/0.92636029
115MP0000767_abnormal_smooth_muscle0.92037977
116MP0000432_abnormal_head_morphology0.91141394
117MP0004859_abnormal_synaptic_plasticity0.91120807
118MP0002084_abnormal_developmental_patter0.90097615
119MP0005423_abnormal_somatic_nervous0.89815775
120MP0002177_abnormal_outer_ear0.88330676
121MP0001191_abnormal_skin_condition0.88173204
122MP0002086_abnormal_extraembryonic_tissu0.87966754
123MP0000955_abnormal_spinal_cord0.87374342
124MP0001661_extended_life_span0.87190997
125MP0002233_abnormal_nose_morphology0.86462676
126MP0002088_abnormal_embryonic_growth/wei0.85206380
127MP0002896_abnormal_bone_mineralization0.84596393
128MP0003633_abnormal_nervous_system0.84082656
129MP0003935_abnormal_craniofacial_develop0.82509030
130MP0009046_muscle_twitch0.80279842
131MP0004043_abnormal_pH_regulation0.79855273
132MP0008569_lethality_at_weaning0.78551348
133MP0009250_abnormal_appendicular_skeleto0.78401782
134MP0003635_abnormal_synaptic_transmissio0.77506623
135MP0005193_abnormal_anterior_eye0.77305163
136MP0000747_muscle_weakness0.76507478
137MP0002249_abnormal_larynx_morphology0.76470960
138MP0003011_delayed_dark_adaptation0.75872782
139MP0001915_intracranial_hemorrhage0.75629304
140MP0004782_abnormal_surfactant_physiolog0.75580743
141MP0000604_amyloidosis0.75297305
142MP0002752_abnormal_somatic_nervous0.74904830
143MP0000750_abnormal_muscle_regeneration0.74804910
144MP0000751_myopathy0.74781962
145MP0009745_abnormal_behavioral_response0.74340323
146MP0001970_abnormal_pain_threshold0.71512396
147MP0002066_abnormal_motor_capabilities/c0.70048380
148MP0008260_abnormal_autophagy0.69015159
149MP0002733_abnormal_thermal_nociception0.68910481
150MP0004145_abnormal_muscle_electrophysio0.68644381
151MP0003755_abnormal_palate_morphology0.66388424
152MP0005195_abnormal_posterior_eye0.66177162
153MP0009931_abnormal_skin_appearance0.66133487
154MP0008004_abnormal_stomach_pH0.65952215
155MP0010030_abnormal_orbit_morphology0.65189927
156MP0000372_irregular_coat_pigmentation0.64626809
157MP0005388_respiratory_system_phenotype0.63285274
158MP0002133_abnormal_respiratory_system0.63285274
159MP0004947_skin_inflammation0.63043075
160MP0000465_gastrointestinal_hemorrhage0.60526545
161MP0000733_abnormal_muscle_development0.59600003
162MP0003385_abnormal_body_wall0.59282329
163MP0002063_abnormal_learning/memory/cond0.58565149
164MP0009384_cardiac_valve_regurgitation0.58329717
165MP0005408_hypopigmentation0.57226103

Predicted human phenotypes

RankGene SetZ-score
1Parakeratosis (HP:0001036)6.70232036
2Congenital nonbullous ichthyosiform erythroderma (HP:0007479)6.43931269
3Congenital ichthyosiform erythroderma (HP:0007431)5.56754359
4Neurofibrillary tangles (HP:0002185)5.54190035
5Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.07656048
6Degeneration of the lateral corticospinal tracts (HP:0002314)5.07656048
7Sensory axonal neuropathy (HP:0003390)4.62609262
8Protrusio acetabuli (HP:0003179)4.45565025
9Cerebral inclusion bodies (HP:0100314)3.93734960
10Atrophic scars (HP:0001075)3.72622655
11Cerebral hypomyelination (HP:0006808)3.72501185
12Erythroderma (HP:0001019)3.72226517
13Ulnar bowing (HP:0003031)3.69944765
14Abnormality of the corticospinal tract (HP:0002492)3.59911908
15Hypotrichosis (HP:0001006)3.47695052
16Onion bulb formation (HP:0003383)3.37760940
17Peripheral hypomyelination (HP:0007182)3.29022341
18Intention tremor (HP:0002080)3.25083877
19Hypoplastic pelvis (HP:0008839)3.19498213
20Abnormal auditory evoked potentials (HP:0006958)3.04810165
21Alacrima (HP:0000522)2.94596960
22Fragile skin (HP:0001030)2.91690740
23Supranuclear gaze palsy (HP:0000605)2.91310685
24Ankle clonus (HP:0011448)2.88029078
25Selective tooth agenesis (HP:0001592)2.84874848
26Hyporeflexia of lower limbs (HP:0002600)2.78055827
27Segmental peripheral demyelination/remyelination (HP:0003481)2.74677086
28Termporal pattern (HP:0011008)2.72627391
29Insidious onset (HP:0003587)2.72627391
30Erythema (HP:0010783)2.71539969
31Bladder diverticulum (HP:0000015)2.70416557
32Spastic gait (HP:0002064)2.68798916
33Abnormality of dentin (HP:0010299)2.63006666
34Shallow orbits (HP:0000586)2.62279304
35Autoamputation (HP:0001218)2.60630601
36Premature skin wrinkling (HP:0100678)2.59192464
37Breast hypoplasia (HP:0003187)2.57379342
38Vertebral compression fractures (HP:0002953)2.57181080
39Ankle contracture (HP:0006466)2.55789267
40Vascular tortuosity (HP:0004948)2.54408977
41Arterial tortuosity (HP:0005116)2.53117997
42Fragile nails (HP:0001808)2.52925276
43Dysmetria (HP:0001310)2.52832014
44Ectropion (HP:0000656)2.52779191
45Squamous cell carcinoma (HP:0002860)2.51760025
46Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.48658434
47Natal tooth (HP:0000695)2.47232852
48Soft skin (HP:0000977)2.46813990
49Poikiloderma (HP:0001029)2.46339344
50Trismus (HP:0000211)2.43231685
51Akinesia (HP:0002304)2.41882339
52Plantar hyperkeratosis (HP:0007556)2.41630707
53Short nail (HP:0001799)2.40641368
54Testicular atrophy (HP:0000029)2.39487088
55Stenosis of the external auditory canal (HP:0000402)2.38083366
56Thin bony cortex (HP:0002753)2.37214184
57Woolly hair (HP:0002224)2.37028789
58Corneal erosion (HP:0200020)2.35271374
59Aplasia involving bones of the upper limbs (HP:0009823)2.34841113
60Aplasia of the phalanges of the hand (HP:0009802)2.34841113
61Aplasia involving bones of the extremities (HP:0009825)2.34841113
62Slow saccadic eye movements (HP:0000514)2.33666212
63Hyperacusis (HP:0010780)2.30768871
64Decreased lacrimation (HP:0000633)2.30706869
65Coronal craniosynostosis (HP:0004440)2.29588073
66Foot dorsiflexor weakness (HP:0009027)2.28802861
67Bowed forearm bones (HP:0003956)2.28095684
68Bowing of the arm (HP:0006488)2.28095684
69Absent eyelashes (HP:0000561)2.27246620
70Genu recurvatum (HP:0002816)2.26393825
71Cervical subluxation (HP:0003308)2.24796935
72Spinal rigidity (HP:0003306)2.23731449
73Neonatal short-limb short stature (HP:0008921)2.22330810
74Right ventricular cardiomyopathy (HP:0011663)2.20881957
75Retinal dysplasia (HP:0007973)2.19993586
76Leukodystrophy (HP:0002415)2.16515237
77Vaginal fistula (HP:0004320)2.16210902
78Absent septum pellucidum (HP:0001331)2.16204373
79Stridor (HP:0010307)2.15986945
80Single umbilical artery (HP:0001195)2.15962409
81Abnormality of the fetal cardiovascular system (HP:0010948)2.15962409
82Abnormal umbilical cord blood vessels (HP:0011403)2.15962409
83Cupped ear (HP:0000378)2.14693272
84Wormian bones (HP:0002645)2.14442366
85Thickened helices (HP:0000391)2.13949778
86Muscle fiber splitting (HP:0003555)2.13514345
87Abnormality of carpal bone ossification (HP:0006257)2.12325990
88Anteriorly placed anus (HP:0001545)2.11857549
89Elbow flexion contracture (HP:0002987)2.11832873
90Follicular hyperkeratosis (HP:0007502)2.11311534
91Septate vagina (HP:0001153)2.10900986
92Turricephaly (HP:0000262)2.10862000
93CNS hypomyelination (HP:0003429)2.10610677
94Increased IgE level (HP:0003212)2.10199347
95Abnormality of the foot musculature (HP:0001436)2.09898994
96Abnormality of glycolysis (HP:0004366)2.09101675
97Increased serum pyruvate (HP:0003542)2.09101675
98Milia (HP:0001056)2.07198721
99Abnormality of the axillary hair (HP:0100134)2.04878874
100Abnormality of secondary sexual hair (HP:0009888)2.04878874
101Biconcave vertebral bodies (HP:0004586)2.04807509
102Palmoplantar hyperkeratosis (HP:0000972)2.03900374
103Achilles tendon contracture (HP:0001771)2.03748370
104Pterygium (HP:0001059)2.02277035
105Myokymia (HP:0002411)2.02269714
106Esophageal atresia (HP:0002032)2.01655427
107Difficulty running (HP:0009046)2.01609803
108Popliteal pterygium (HP:0009756)2.00820347
109Hypoplasia of the iris (HP:0007676)2.00043259
110Adrenal hypoplasia (HP:0000835)1.99641334
111Humeroradial synostosis (HP:0003041)1.99287888
112Synostosis involving the elbow (HP:0003938)1.99287888
113Alopecia of scalp (HP:0002293)1.99030314
114Megalencephaly (HP:0001355)1.99005979
115Rectovaginal fistula (HP:0000143)1.98416106
116Rectal fistula (HP:0100590)1.98416106
117Steppage gait (HP:0003376)1.97422782
118Abnormalities of placenta or umbilical cord (HP:0001194)1.96908566
119Spastic paraparesis (HP:0002313)1.95481245
120Abnormality of nail color (HP:0100643)1.94853129
121Abnormal ossification of hand bones (HP:0005921)1.93908960
122Hypohidrosis (HP:0000966)1.93298666
123Anomalous pulmonary venous return (HP:0010772)1.92731926
124Partial duplication of thumb phalanx (HP:0009944)1.92649529
125Renal duplication (HP:0000075)1.92374385
126Abnormality of the intrinsic pathway (HP:0010989)1.91901983
127Onycholysis (HP:0001806)1.90412389
128Decreased motor nerve conduction velocity (HP:0003431)1.89603276
129Blue sclerae (HP:0000592)1.88769747
130Abnormality of the pulmonary veins (HP:0011718)1.88354767
131Premature rupture of membranes (HP:0001788)1.88304136
132Morphological abnormality of the inner ear (HP:0011390)1.87500174
133Scanning speech (HP:0002168)1.87363302
134Clumsiness (HP:0002312)1.86996521
135Abnormality of the phalanges of the 2nd finger (HP:0009541)1.85864005
136Thick nail (HP:0001805)1.85314397
137Pheochromocytoma (HP:0002666)1.83819539
138Lower limb muscle weakness (HP:0007340)1.82382697
139Small epiphyses (HP:0010585)1.82092362
140Palmar hyperkeratosis (HP:0010765)1.81723136
141Ridged nail (HP:0001807)1.81289795
142Nail dystrophy (HP:0008404)1.81021320
143Abnormality of the Achilles tendon (HP:0005109)1.80980159
144Abnormality of the umbilical cord (HP:0010881)1.80648789
145Cerebral hemorrhage (HP:0001342)1.80108999
146Ulnar claw (HP:0001178)1.79818292
147Slender long bone (HP:0003100)1.79817124
148Abnormality of the septum pellucidum (HP:0007375)1.78301437
149Intestinal fistula (HP:0100819)1.77864794
150Myelomeningocele (HP:0002475)1.77726084
151Advanced eruption of teeth (HP:0006288)1.77721289
152Bowel incontinence (HP:0002607)1.77453475
153Nonimmune hydrops fetalis (HP:0001790)1.77368892
154Split foot (HP:0001839)1.76900439
155Abnormality of the salivary glands (HP:0010286)1.75913689
156Hypoplasia of the capital femoral epiphysis (HP:0003090)1.75868587
157Partial duplication of the phalanx of hand (HP:0009999)1.74658993
158Abnormality of the acetabulum (HP:0003170)1.73756556
159Deviation of the hallux (HP:0010051)1.73701989
160Sparse eyelashes (HP:0000653)1.72903382
161Mitral regurgitation (HP:0001653)1.72672178
162Aortic dissection (HP:0002647)1.72496741
163Abnormality of placental membranes (HP:0011409)1.71614757
164Amniotic constriction ring (HP:0009775)1.71614757
165Reticulocytopenia (HP:0001896)1.70607358
166Broad metatarsal (HP:0001783)1.70412704
167Disproportionate tall stature (HP:0001519)1.70345342
168Abnormality of the distal phalanges of the toes (HP:0010182)1.68686293
169Abnormality of the phalanges of the hallux (HP:0010057)1.66499696
170Hyperextensible skin (HP:0000974)1.66499002
171Asymmetry of the thorax (HP:0001555)1.66340662
172Deviation of the thumb (HP:0009603)1.66085142
173Duplication of thumb phalanx (HP:0009942)1.63366277
174Facial hemangioma (HP:0000329)1.63012960
175Nasolacrimal duct obstruction (HP:0000579)1.62834394
176Insomnia (HP:0100785)1.61739423
177Aplasia/Hypoplasia of the sacrum (HP:0008517)1.61470491
178Ankyloglossia (HP:0010296)1.60998065
179Hallux valgus (HP:0001822)1.60711049
180Thin ribs (HP:0000883)1.60621137
181Spinal cord compression (HP:0002176)1.59893518
182Syringomyelia (HP:0003396)1.55916226
183Spinal cord lesions (HP:0100561)1.55916226
184Abnormal hand bone ossification (HP:0010660)1.54727388
185Overlapping toe (HP:0001845)1.53785015

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK395.81102003
2OXSR13.78055301
3BCR3.37825351
4EPHB13.27055310
5SMG13.01327465
6MET2.96780711
7MAPKAPK52.94274664
8NME22.94146571
9PRPF4B2.84593861
10TRIB32.83215414
11IRAK32.76413926
12PBK2.72278171
13LIMK12.67550497
14BUB12.56786960
15PKN12.42925862
16FGFR22.23933360
17EEF2K2.16895065
18WNK42.15936365
19PDGFRA2.14964411
20MST42.06236946
21LATS21.98486919
22CDK191.88583014
23PAK41.87352366
24VRK21.86594564
25WNK11.79763073
26STK161.77738125
27SIK11.76895425
28CDK121.73752478
29CDC71.70976577
30UHMK11.70602579
31CSNK1G31.68505473
32NEK11.67525267
33CSNK1A1L1.62438785
34ROCK21.55436393
35CLK11.53459749
36PRKD31.45074760
37TESK21.42387146
38FGR1.37110680
39MST1R1.36256712
40EPHA41.35386593
41NEK61.30394326
42CAMK2B1.29346532
43ICK1.26476777
44LATS11.25778975
45TTK1.25522916
46CSNK1G11.24458493
47NTRK11.20835464
48PAK61.19106848
49CSNK1G21.18900746
50TNIK1.17410781
51DYRK21.16676231
52MAP3K21.16345673
53RIPK11.11958740
54PAK31.10718635
55TYRO31.10147212
56EIF2AK11.09532389
57CDK81.08809064
58BMPR1B1.07861271
59CHEK21.03751953
60CDK71.02572010
61CAMK2D1.02177554
62TIE11.01966275
63ARAF1.01744767
64MAP3K101.01218928
65FER1.01208342
66MTOR1.00403931
67TRPM71.00403689
68AURKA1.00116474
69TLK10.98144586
70EPHB20.98036698
71NEK20.96825504
72CDK140.96204888
73MAP3K80.96172470
74ERN10.95948641
75TAF10.93737834
76MARK20.90174250
77MARK10.88790920
78PRKD10.84147213
79SGK4940.83894410
80SGK2230.83894410
81AURKB0.83758585
82SRPK10.83242102
83KSR20.82718237
84PKN20.82623301
85TTN0.82621582
86MAP2K20.82502664
87TESK10.81489559
88WEE10.80975145
89ABL20.80529822
90PLK10.79560569
91BRSK10.78734177
92CDK150.78006474
93FGFR40.76660141
94CAMK2G0.76415072
95CDK50.74514919
96LMTK20.74450787
97CDK180.73407026
98CAMK2A0.72884268
99NEK90.72858103
100CDK11A0.72790340
101RPS6KB20.71779389
102CASK0.71665169
103NME10.70151767
104PRKCQ0.69868167
105TAOK20.68851254
106ILK0.63484762
107CHEK10.62513830
108PRKCE0.60080352
109OBSCN0.59329913
110RPS6KA50.58946324
111IRAK20.58861296
112KDR0.57786722
113DMPK0.57306762
114MAPK150.57166840
115CAMK1G0.57090088
116FGFR10.57024793
117PHKG10.56835094
118PHKG20.56835094
119TSSK60.56265907
120AKT20.55993108
121BRAF0.54994926
122CDK40.54813668
123CSNK1D0.54811959
124PLK30.54249575
125ZAK0.53897774
126NTRK20.53833095
127PNCK0.53225848
128NUAK10.52568281
129GRK10.52259777
130MELK0.49117718
131SCYL20.48864188
132PTK20.47825512
133MYLK0.47547991
134CDK90.46961009
135CDC42BPA0.46511580
136FYN0.46203808
137CAMK1D0.45370359
138PAK10.45227931
139PRKG10.44601109
140PRKD20.43982192
141RPS6KA40.43684453
142ERBB40.43006082
143DAPK30.42156130
144MAPK110.41830761
145STK240.41788906
146PDGFRB0.41657423
147CSNK1A10.41160816
148ATR0.41023146
149PIM20.40315467
150ERBB20.39707790
151FLT30.39279377
152MAP3K30.38364213
153STK110.38087320
154GSK3A0.37785341
155BMX0.36934284
156PDPK10.36896716
157MAP3K90.36734680
158ROCK10.35387794
159BLK0.33434761
160MOS0.33122880
161PAK20.32185978
162PTK2B0.31827871
163LRRK20.31605947
164PRKACB0.31248703
165CSNK1E0.30905443
166EPHA20.30721248
167MUSK0.28510761
168DDR20.28435197

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009005.55349611
2Fatty acid elongation_Homo sapiens_hsa000624.71745852
3Steroid biosynthesis_Homo sapiens_hsa001004.59164576
4Ether lipid metabolism_Homo sapiens_hsa005653.33028088
5Sulfur relay system_Homo sapiens_hsa041222.98895827
6DNA replication_Homo sapiens_hsa030302.92186322
7Sphingolipid metabolism_Homo sapiens_hsa006002.67026209
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.58357987
9Linoleic acid metabolism_Homo sapiens_hsa005912.41716727
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.37996203
11alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.23981105
12Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.10743560
13Axon guidance_Homo sapiens_hsa043602.09296270
14Bladder cancer_Homo sapiens_hsa052192.00220216
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.99070780
16Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.86973553
17Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.85544844
18Protein export_Homo sapiens_hsa030601.84903574
19Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.84360497
20Biosynthesis of amino acids_Homo sapiens_hsa012301.84247764
21Fructose and mannose metabolism_Homo sapiens_hsa000511.80495584
22Mismatch repair_Homo sapiens_hsa034301.77321046
23Oxidative phosphorylation_Homo sapiens_hsa001901.76441664
24Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.73745221
25Base excision repair_Homo sapiens_hsa034101.70889186
26Cell cycle_Homo sapiens_hsa041101.66115954
27Pyrimidine metabolism_Homo sapiens_hsa002401.65723396
28One carbon pool by folate_Homo sapiens_hsa006701.64555981
29Histidine metabolism_Homo sapiens_hsa003401.64255075
30Arachidonic acid metabolism_Homo sapiens_hsa005901.60294096
31Nucleotide excision repair_Homo sapiens_hsa034201.58944934
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.55698195
33Tight junction_Homo sapiens_hsa045301.53767018
34Sulfur metabolism_Homo sapiens_hsa009201.49976652
35Serotonergic synapse_Homo sapiens_hsa047261.48436507
36Small cell lung cancer_Homo sapiens_hsa052221.45308818
37Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.44374721
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.43933647
39Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.43887822
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.41529183
41N-Glycan biosynthesis_Homo sapiens_hsa005101.41475682
42Central carbon metabolism in cancer_Homo sapiens_hsa052301.40485788
43RNA polymerase_Homo sapiens_hsa030201.40060083
44Adherens junction_Homo sapiens_hsa045201.33743156
45Sphingolipid signaling pathway_Homo sapiens_hsa040711.32817204
46p53 signaling pathway_Homo sapiens_hsa041151.32343331
47Galactose metabolism_Homo sapiens_hsa000521.29753591
48Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.27848107
49RNA transport_Homo sapiens_hsa030131.27195129
50Alzheimers disease_Homo sapiens_hsa050101.25897636
51Parkinsons disease_Homo sapiens_hsa050121.22053038
52MicroRNAs in cancer_Homo sapiens_hsa052061.21896148
53Spliceosome_Homo sapiens_hsa030401.21886553
54Focal adhesion_Homo sapiens_hsa045101.19918355
55Vibrio cholerae infection_Homo sapiens_hsa051101.18797384
56Renal cell carcinoma_Homo sapiens_hsa052111.17593443
57Long-term depression_Homo sapiens_hsa047301.15139830
58Glycosaminoglycan degradation_Homo sapiens_hsa005311.14720214
59Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.13567812
60Thyroid cancer_Homo sapiens_hsa052161.09933171
61Proteasome_Homo sapiens_hsa030501.09262708
62Pentose phosphate pathway_Homo sapiens_hsa000301.08674388
63Glutamatergic synapse_Homo sapiens_hsa047241.07173999
64Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.06241188
65SNARE interactions in vesicular transport_Homo sapiens_hsa041301.03557488
66Fanconi anemia pathway_Homo sapiens_hsa034600.94996675
67Phototransduction_Homo sapiens_hsa047440.93559665
68Carbon metabolism_Homo sapiens_hsa012000.92244773
69Chronic myeloid leukemia_Homo sapiens_hsa052200.91277704
70Ras signaling pathway_Homo sapiens_hsa040140.90805351
71TGF-beta signaling pathway_Homo sapiens_hsa043500.90188315
72Homologous recombination_Homo sapiens_hsa034400.89728003
73Prion diseases_Homo sapiens_hsa050200.88475461
74Vascular smooth muscle contraction_Homo sapiens_hsa042700.88005061
75Endocytosis_Homo sapiens_hsa041440.87773364
76Pyruvate metabolism_Homo sapiens_hsa006200.87028343
77ECM-receptor interaction_Homo sapiens_hsa045120.84215696
78Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.83871830
79GABAergic synapse_Homo sapiens_hsa047270.83424110
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83305542
81Hedgehog signaling pathway_Homo sapiens_hsa043400.83255983
82Cocaine addiction_Homo sapiens_hsa050300.81308151
83Ovarian steroidogenesis_Homo sapiens_hsa049130.80439921
84Collecting duct acid secretion_Homo sapiens_hsa049660.80322316
85Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79960196
86Vitamin B6 metabolism_Homo sapiens_hsa007500.79232846
87Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.78725641
88Other glycan degradation_Homo sapiens_hsa005110.76556958
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.76242241
90Melanoma_Homo sapiens_hsa052180.75729686
91Glutathione metabolism_Homo sapiens_hsa004800.75513843
92Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74804992
93Mineral absorption_Homo sapiens_hsa049780.74575753
94Cyanoamino acid metabolism_Homo sapiens_hsa004600.73579526
95Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.73466583
96Pancreatic secretion_Homo sapiens_hsa049720.73436510
97Lysine degradation_Homo sapiens_hsa003100.73247026
98Cysteine and methionine metabolism_Homo sapiens_hsa002700.73242111
99Salivary secretion_Homo sapiens_hsa049700.72680950
100Vitamin digestion and absorption_Homo sapiens_hsa049770.71269865
101Pancreatic cancer_Homo sapiens_hsa052120.71094067
102Arginine and proline metabolism_Homo sapiens_hsa003300.70892634
103Cardiac muscle contraction_Homo sapiens_hsa042600.70614808
104mRNA surveillance pathway_Homo sapiens_hsa030150.69758701
105Non-homologous end-joining_Homo sapiens_hsa034500.69689796
106Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.68395732
107Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.67884551
108Notch signaling pathway_Homo sapiens_hsa043300.67631790
109Circadian entrainment_Homo sapiens_hsa047130.65755916
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.65223919
111Protein digestion and absorption_Homo sapiens_hsa049740.64944152
112Hippo signaling pathway_Homo sapiens_hsa043900.64710413
113ErbB signaling pathway_Homo sapiens_hsa040120.64550202
114Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64391590
115Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.64187778
116Basal cell carcinoma_Homo sapiens_hsa052170.63315829
117Phospholipase D signaling pathway_Homo sapiens_hsa040720.63147130
118Prostate cancer_Homo sapiens_hsa052150.62947406
119Gastric acid secretion_Homo sapiens_hsa049710.62833573
120Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.62663539
121Gap junction_Homo sapiens_hsa045400.62632503
122Pathways in cancer_Homo sapiens_hsa052000.61316731
123Morphine addiction_Homo sapiens_hsa050320.60355945
124Dorso-ventral axis formation_Homo sapiens_hsa043200.59920622
125Arginine biosynthesis_Homo sapiens_hsa002200.59774182
126Glycerophospholipid metabolism_Homo sapiens_hsa005640.58999685
127Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.58898391
128Melanogenesis_Homo sapiens_hsa049160.58360462
129Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.58115073
130Phagosome_Homo sapiens_hsa041450.58022756
131Renin secretion_Homo sapiens_hsa049240.57773918
132Amoebiasis_Homo sapiens_hsa051460.56338582
133Dopaminergic synapse_Homo sapiens_hsa047280.55838829
134Butanoate metabolism_Homo sapiens_hsa006500.55538567
135Regulation of actin cytoskeleton_Homo sapiens_hsa048100.54569663
136Purine metabolism_Homo sapiens_hsa002300.53314852
137Leukocyte transendothelial migration_Homo sapiens_hsa046700.52915699
138Rheumatoid arthritis_Homo sapiens_hsa053230.52775330
139Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.52666960
140Huntingtons disease_Homo sapiens_hsa050160.52543959
141AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.52169022
142Cholinergic synapse_Homo sapiens_hsa047250.49120552
143Glioma_Homo sapiens_hsa052140.48821366
144Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47081983
145Ribosome_Homo sapiens_hsa030100.47010353
146GnRH signaling pathway_Homo sapiens_hsa049120.46977484
147VEGF signaling pathway_Homo sapiens_hsa043700.45946578
148Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.45450908
149Shigellosis_Homo sapiens_hsa051310.44156787
150Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43693779
151Selenocompound metabolism_Homo sapiens_hsa004500.43608160
152Folate biosynthesis_Homo sapiens_hsa007900.42828554
153Rap1 signaling pathway_Homo sapiens_hsa040150.42796397
154Endometrial cancer_Homo sapiens_hsa052130.42793576
155Wnt signaling pathway_Homo sapiens_hsa043100.42758946
156Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.41376302
157Salmonella infection_Homo sapiens_hsa051320.41198567
158Lysosome_Homo sapiens_hsa041420.40933064
159Alcoholism_Homo sapiens_hsa050340.39813140
160Retinol metabolism_Homo sapiens_hsa008300.36868395
161Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.36480337
162HTLV-I infection_Homo sapiens_hsa051660.36163189
163Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.34961305
164Choline metabolism in cancer_Homo sapiens_hsa052310.34846717
165PI3K-Akt signaling pathway_Homo sapiens_hsa041510.33170375
166Malaria_Homo sapiens_hsa051440.32890548
167Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.30647512
168Dilated cardiomyopathy_Homo sapiens_hsa054140.29412172
169Synaptic vesicle cycle_Homo sapiens_hsa047210.29107969
170MAPK signaling pathway_Homo sapiens_hsa040100.27231817
171Proteoglycans in cancer_Homo sapiens_hsa052050.26533320
172Oxytocin signaling pathway_Homo sapiens_hsa049210.26409838

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