TMPRSS3

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 protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of somitogenesis (GO:0014807)9.78200516
2epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)8.73067452
3cilium movement (GO:0003341)8.54707714
4epithelial cilium movement (GO:0003351)7.79085627
5inner ear receptor cell differentiation (GO:0060113)7.28580453
6hair cell differentiation (GO:0035315)6.47494651
7axoneme assembly (GO:0035082)6.40247702
8motile cilium assembly (GO:0044458)6.12923517
9protein polyglutamylation (GO:0018095)5.99925917
10lipopolysaccharide biosynthetic process (GO:0009103)5.84093164
11glycoprotein catabolic process (GO:0006516)5.64835085
12mechanoreceptor differentiation (GO:0042490)5.62880083
13endocardial cushion morphogenesis (GO:0003203)5.42882621
14Notch signaling involved in heart development (GO:0061314)5.09400713
15lipopolysaccharide metabolic process (GO:0008653)5.01264828
16pathway-restricted SMAD protein phosphorylation (GO:0060389)4.96002161
17regulation of gamma-delta T cell differentiation (GO:0045586)4.95474778
18antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.94317731
19antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.94317731
20positive regulation of Notch signaling pathway (GO:0045747)4.94201090
21vitamin transmembrane transport (GO:0035461)4.64737810
22ribosomal small subunit assembly (GO:0000028)4.43929697
23regulation of gamma-delta T cell activation (GO:0046643)4.27265884
24regulation of cilium movement (GO:0003352)4.22538400
25negative regulation of T cell differentiation in thymus (GO:0033085)4.21339138
26mesenchyme morphogenesis (GO:0072132)4.09731595
27positive regulation of respiratory burst (GO:0060267)4.08245874
28response to muramyl dipeptide (GO:0032495)4.07656188
29type B pancreatic cell proliferation (GO:0044342)4.07557600
30positive regulation of B cell differentiation (GO:0045579)4.06402998
31regulation of skeletal muscle cell differentiation (GO:2001014)4.04840070
32antigen processing and presentation via MHC class Ib (GO:0002475)4.03120831
33antigen processing and presentation of endogenous antigen (GO:0019883)3.92112201
34aorta morphogenesis (GO:0035909)3.89139395
35left/right pattern formation (GO:0060972)3.82918971
36protein localization to kinetochore (GO:0034501)3.76682057
37fat-soluble vitamin catabolic process (GO:0042363)3.74671412
38vitamin catabolic process (GO:0009111)3.74671412
39viral transcription (GO:0019083)3.73581653
40tolerance induction (GO:0002507)3.68432846
41positive regulation of gene expression, epigenetic (GO:0045815)3.68344285
42calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.68269066
43negative regulation of RNA splicing (GO:0033119)3.68169150
44* sensory perception of sound (GO:0007605)3.65742296
45regulation of B cell differentiation (GO:0045577)3.62569300
46establishment of apical/basal cell polarity (GO:0035089)3.55414574
47negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.55333580
48* sensory perception of mechanical stimulus (GO:0050954)3.55087920
49DNA unwinding involved in DNA replication (GO:0006268)3.54269231
50microtubule bundle formation (GO:0001578)3.52477443
51pentose-phosphate shunt (GO:0006098)3.50732704
52B cell receptor signaling pathway (GO:0050853)3.49709016
53negative regulation of phagocytosis (GO:0050765)3.45776616
54positive regulation of gamma-delta T cell activation (GO:0046645)3.44919308
55germ cell migration (GO:0008354)3.43549278
56establishment of monopolar cell polarity (GO:0061162)3.42125856
57establishment or maintenance of monopolar cell polarity (GO:0061339)3.42125856
58cilium organization (GO:0044782)3.40753377
59left/right axis specification (GO:0070986)3.39183321
60translational termination (GO:0006415)3.37785516
61lymphoid progenitor cell differentiation (GO:0002320)3.34060332
62positive regulation of mast cell activation involved in immune response (GO:0033008)3.32796844
63positive regulation of mast cell degranulation (GO:0043306)3.32796844
64epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)3.31738959
65cornea development in camera-type eye (GO:0061303)3.29143335
66protein localization to cilium (GO:0061512)3.28733012
67cilium assembly (GO:0042384)3.27578553
68negative regulation of mRNA processing (GO:0050686)3.23204812
69galactose catabolic process (GO:0019388)3.18852996
70regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.17907632
71V(D)J recombination (GO:0033151)3.16979177
72intraciliary transport (GO:0042073)3.14143510
73heart valve morphogenesis (GO:0003179)3.13696539
74neuronal stem cell maintenance (GO:0097150)3.12206037
75lens fiber cell development (GO:0070307)3.06549209
76behavioral response to nicotine (GO:0035095)3.05945134
77cardiac right ventricle morphogenesis (GO:0003215)3.04873659
78cullin deneddylation (GO:0010388)3.02095853
79SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.98803725
80fucose catabolic process (GO:0019317)2.97691676
81L-fucose metabolic process (GO:0042354)2.97691676
82L-fucose catabolic process (GO:0042355)2.97691676
83cilium morphogenesis (GO:0060271)2.96086042
84negative regulation of humoral immune response (GO:0002921)2.94924462
85membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.94844262
86regulation of extracellular matrix disassembly (GO:0010715)2.93924912
87mast cell activation involved in immune response (GO:0002279)2.93510170
88mast cell degranulation (GO:0043303)2.93510170
89NADPH regeneration (GO:0006740)2.93204958
90mast cell activation (GO:0045576)2.92626726
91protein targeting to ER (GO:0045047)2.92449416
92translational elongation (GO:0006414)2.92446428
93regulation of secondary heart field cardioblast proliferation (GO:0003266)2.92400281
94regulation of cardioblast proliferation (GO:0003264)2.92400281
95cotranslational protein targeting to membrane (GO:0006613)2.92192198
96protein localization to chromosome, centromeric region (GO:0071459)2.91834375
97regulation of microtubule-based movement (GO:0060632)2.90854977
98response to interferon-beta (GO:0035456)2.88291739
99cellular ketone body metabolic process (GO:0046950)2.87616538
100regulation of histone H3-K9 methylation (GO:0051570)2.87165060
101cytokine biosynthetic process (GO:0042089)2.86881763
102pyrimidine-containing compound transmembrane transport (GO:0072531)2.86857239
103regulation of histone H3-K4 methylation (GO:0051569)2.85796894
104ventricular septum morphogenesis (GO:0060412)2.84784972
105establishment of protein localization to endoplasmic reticulum (GO:0072599)2.84521856
106primary alcohol catabolic process (GO:0034310)2.83685648
107locomotory exploration behavior (GO:0035641)2.81208833
108DNA deamination (GO:0045006)2.80167579
109positive regulation of mast cell activation (GO:0033005)2.79270341
110nucleoside diphosphate phosphorylation (GO:0006165)2.78116926
111sialylation (GO:0097503)2.77963037
112cardiac ventricle morphogenesis (GO:0003208)2.77187407
113centriole assembly (GO:0098534)2.77153423
114exogenous drug catabolic process (GO:0042738)2.76655629
115water-soluble vitamin biosynthetic process (GO:0042364)2.76245758
116histone H3-K4 trimethylation (GO:0080182)2.76244424
117behavioral response to pain (GO:0048266)2.76194622
118protein deneddylation (GO:0000338)2.74644627
119definitive hemopoiesis (GO:0060216)2.72856624
120retinoic acid metabolic process (GO:0042573)2.72641531
121heart valve formation (GO:0003188)2.71717910
122generation of neurons (GO:0048699)2.71480326
123positive regulation of histone H3-K4 methylation (GO:0051571)2.70682164
124positive regulation of cellular amine metabolic process (GO:0033240)2.69351527
125photoreceptor cell maintenance (GO:0045494)2.69158837
126nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.68934313
127keratinocyte development (GO:0003334)2.68794581
128lung epithelium development (GO:0060428)2.67349675
129sperm motility (GO:0030317)2.67042347
130regulation of germinal center formation (GO:0002634)2.66493040
131viral life cycle (GO:0019058)2.66280421
132negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.64745617
133membrane repolarization during action potential (GO:0086011)2.64107686
134positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.63975208
135mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.63975208
136positive regulation of defense response to virus by host (GO:0002230)2.63483809
137ubiquinone biosynthetic process (GO:0006744)2.63440200
138protein localization to endoplasmic reticulum (GO:0070972)2.62279789
139somatic stem cell division (GO:0048103)2.60654866
140negative regulation of mRNA metabolic process (GO:1903312)2.59899999
141T cell homeostasis (GO:0043029)2.59843687
142mannose metabolic process (GO:0006013)2.59803713
143response to misfolded protein (GO:0051788)2.59016750
144nucleosome disassembly (GO:0006337)2.57958756
145protein-DNA complex disassembly (GO:0032986)2.57958756
146positive regulation of histone deacetylation (GO:0031065)2.57740803
147regulation of Notch signaling pathway (GO:0008593)2.57730922
148vitamin transport (GO:0051180)2.57013297
149ketone body metabolic process (GO:1902224)2.56695507
150positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.54271163
151glucocorticoid receptor signaling pathway (GO:0042921)2.52935407
152citrulline biosynthetic process (GO:0019240)2.52928335
153regulation of respiratory burst (GO:0060263)2.52295182
154piRNA metabolic process (GO:0034587)2.52080421
155multicellular organism reproduction (GO:0032504)2.50430162
156cellular component assembly involved in morphogenesis (GO:0010927)2.49942397
157signal peptide processing (GO:0006465)2.49476093
158regulation of defense response to virus by host (GO:0050691)2.47331405
159O-glycan processing (GO:0016266)2.46092209
160one-carbon compound transport (GO:0019755)2.45823221
161endoderm formation (GO:0001706)2.45337715
162preassembly of GPI anchor in ER membrane (GO:0016254)2.45122554
163indolalkylamine metabolic process (GO:0006586)2.42015016
164ethanol metabolic process (GO:0006067)2.40895093
165nucleotide transmembrane transport (GO:1901679)2.40107050
166drug catabolic process (GO:0042737)2.37183977
167response to xenobiotic stimulus (GO:0009410)2.36864532
168GTP biosynthetic process (GO:0006183)2.36765869
169thyroid hormone generation (GO:0006590)2.36015298
170negative regulation of immunoglobulin mediated immune response (GO:0002890)2.35903570
171negative regulation of B cell mediated immunity (GO:0002713)2.35903570
172kynurenine metabolic process (GO:0070189)2.35742494
173sulfur compound transport (GO:0072348)2.35588299
174indole-containing compound catabolic process (GO:0042436)2.35495357
175indolalkylamine catabolic process (GO:0046218)2.35495357
176tryptophan catabolic process (GO:0006569)2.35495357
177cellular response to exogenous dsRNA (GO:0071360)2.34459584
178opsonization (GO:0008228)2.32824356
179regulation of activation of Janus kinase activity (GO:0010533)2.30616563
180ubiquinone metabolic process (GO:0006743)2.28491175
181glycosphingolipid biosynthetic process (GO:0006688)2.27743481
182phosphorylated carbohydrate dephosphorylation (GO:0046838)2.27004182
183inositol phosphate dephosphorylation (GO:0046855)2.27004182
184positive regulation of keratinocyte differentiation (GO:0045618)2.26619829
185protein O-linked glycosylation (GO:0006493)2.26095655
186rRNA catabolic process (GO:0016075)2.24864231
187thyroid hormone metabolic process (GO:0042403)2.24206223
188ventricular system development (GO:0021591)2.23449839
189terpenoid biosynthetic process (GO:0016114)2.22456344
190UTP biosynthetic process (GO:0006228)2.22412762
191gonadal mesoderm development (GO:0007506)15.9612478
192pentose metabolic process (GO:0019321)11.8392347
193auditory receptor cell differentiation (GO:0042491)11.1177363
194axonemal dynein complex assembly (GO:0070286)10.4966896
195cilium or flagellum-dependent cell motility (GO:0001539)10.0908413

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.06320171
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.04788240
3TRIM28_21343339_ChIP-Seq_HEK293_Human4.80809391
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.66491432
5VDR_21846776_ChIP-Seq_THP-1_Human4.34503975
6MYC_22102868_ChIP-Seq_BL_Human3.99404722
7EGR1_19374776_ChIP-ChIP_THP-1_Human3.71422357
8FOXM1_23109430_ChIP-Seq_U2OS_Human3.18374061
9ZNF274_21170338_ChIP-Seq_K562_Hela3.18017853
10TP63_17297297_ChIP-ChIP_HaCaT_Human3.15813726
11VDR_22108803_ChIP-Seq_LS180_Human3.13495325
12STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.99490302
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.98985488
14SCL_19346495_ChIP-Seq_HPC-7_Human2.86432666
15VDR_24763502_ChIP-Seq_THP-1_Human2.72051342
16MYB_21317192_ChIP-Seq_ERMYB_Mouse2.66370019
17ESR1_21235772_ChIP-Seq_MCF-7_Human2.59775977
18TCF7_22412390_ChIP-Seq_EML_Mouse2.51495135
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.36901584
20DROSHA_22980978_ChIP-Seq_HELA_Human2.31874657
21SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.22638224
22KDM2B_26808549_Chip-Seq_DND41_Human2.20989117
23MAF_26560356_Chip-Seq_TH1_Human2.20895563
24KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.19763211
25MYB_26560356_Chip-Seq_TH2_Human2.19257821
26UTX_26944678_Chip-Seq_JUKART_Human2.18407706
27EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.15725432
28IRF8_22096565_ChIP-ChIP_GC-B_Human2.10341869
29E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.08215109
30* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.05413005
31RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.04709854
32NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.04232662
33FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.01376166
34FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.01225323
35KDM2B_26808549_Chip-Seq_SUP-B15_Human1.99646963
36KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.99309534
37TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.98495790
38AHR_22903824_ChIP-Seq_MCF-7_Human1.93767876
39EGR1_23403033_ChIP-Seq_LIVER_Mouse1.93565846
40MYB_26560356_Chip-Seq_TH1_Human1.90270041
41TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.90225365
42GATA1_22025678_ChIP-Seq_K562_Human1.86735152
43ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.85100041
44FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.83783575
45SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.79787887
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.79773003
47STAT1_20625510_ChIP-Seq_HELA_Human1.79272300
48HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.78741762
49FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.76128917
50SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.75937002
51FOXA1_27270436_Chip-Seq_PROSTATE_Human1.74354967
52FOXA1_25329375_ChIP-Seq_VCAP_Human1.74354967
53TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.73506606
54SPI1_23547873_ChIP-Seq_NB4_Human1.71955294
55CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.71712221
56ESR1_15608294_ChIP-ChIP_MCF-7_Human1.71354316
57STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.69850354
58IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.69213980
59NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.68462860
60CIITA_25753668_ChIP-Seq_RAJI_Human1.66910521
61RUNX1_22412390_ChIP-Seq_EML_Mouse1.66113020
62CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.63163196
63RUNX_20019798_ChIP-Seq_JUKART_Human1.61349495
64NOTCH1_21737748_ChIP-Seq_TLL_Human1.61021724
65GABP_17652178_ChIP-ChIP_JURKAT_Human1.59485529
66TDRD3_21172665_ChIP-Seq_MCF-7_Human1.58135895
67NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.57289320
68STAT4_19710469_ChIP-ChIP_TH1__Mouse1.56483737
69ARNT_22903824_ChIP-Seq_MCF-7_Human1.53780663
70ESR1_20079471_ChIP-ChIP_T-47D_Human1.53229064
71AR_20517297_ChIP-Seq_VCAP_Human1.51951025
72ELF1_17652178_ChIP-ChIP_JURKAT_Human1.51334197
73SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.46005744
74ELK3_25401928_ChIP-Seq_HUVEC_Human1.44744589
75* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.44699791
76PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.44336708
77HOXB7_26014856_ChIP-Seq_BT474_Human1.43895166
78KDM2B_26808549_Chip-Seq_JURKAT_Human1.42023059
79CTBP1_25329375_ChIP-Seq_LNCAP_Human1.41166395
80E2F1_21310950_ChIP-Seq_MCF-7_Human1.40852329
81LXR_22292898_ChIP-Seq_THP-1_Human1.39520896
82GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.39354129
83ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.39255403
84GATA1_22383799_ChIP-Seq_G1ME_Mouse1.37211348
85TP53_22573176_ChIP-Seq_HFKS_Human1.37155325
86FLI1_27457419_Chip-Seq_LIVER_Mouse1.35703815
87CTBP2_25329375_ChIP-Seq_LNCAP_Human1.35511118
88EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.34874156
89IRF8_27001747_Chip-Seq_BMDM_Mouse1.34597918
90AR_21572438_ChIP-Seq_LNCaP_Human1.34180408
91STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.34020507
92ERA_21632823_ChIP-Seq_H3396_Human1.33527556
93CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.33085669
94ER_23166858_ChIP-Seq_MCF-7_Human1.29555120
95SPI1_23127762_ChIP-Seq_K562_Human1.29041361
96GATA3_21878914_ChIP-Seq_MCF-7_Human1.28898219
97NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.28850067
98PCGF2_27294783_Chip-Seq_ESCs_Mouse1.28335167
99TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.27572170
100EZH2_22144423_ChIP-Seq_EOC_Human1.26784955
101ESR2_21235772_ChIP-Seq_MCF-7_Human1.25425789
102TCF4_22108803_ChIP-Seq_LS180_Human1.25270868
103CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.24729582
104BCAT_22108803_ChIP-Seq_LS180_Human1.23648482
105MYC_19829295_ChIP-Seq_ESCs_Human1.23423525
106MAF_26560356_Chip-Seq_TH2_Human1.22754450
107EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.21303880
108VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.20940096
109TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.20863368
110RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.20510746
111P300_27268052_Chip-Seq_Bcells_Human1.19915089
112SMRT_27268052_Chip-Seq_Bcells_Human1.19286652
113EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.18882484
114SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.18009511
115ZFP57_27257070_Chip-Seq_ESCs_Mouse1.17674015
116RBPJ_21746931_ChIP-Seq_IB4_Human1.17673254
117* OCT4_20526341_ChIP-Seq_ESCs_Human1.16585064
118MYC_19079543_ChIP-ChIP_MESCs_Mouse1.16049493
119RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.16012678
120MYC_18940864_ChIP-ChIP_HL60_Human1.15680880
121FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.15670941
122RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15050484
123PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14916206
124ETV1_20927104_ChIP-Seq_GIST48_Human1.14315445
125GATA3_27048872_Chip-Seq_THYMUS_Human1.13340288
126RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.12799009
127RUNX1_27514584_Chip-Seq_MCF-7_Human1.12757051
128GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11456334
129GATA2_22383799_ChIP-Seq_G1ME_Mouse1.11423462
130FOXM1_26456572_ChIP-Seq_MCF-7_Human1.10615039
131FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.09676521
132* TAF2_19829295_ChIP-Seq_ESCs_Human1.09104037
133FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.08929402
134FOXH1_21741376_ChIP-Seq_ESCs_Human1.08575204
135NANOG_20526341_ChIP-Seq_ESCs_Human1.08475985
136NCOR_22424771_ChIP-Seq_293T_Human1.08327376
137KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.08317792
138GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.08121999
139FOXA1_21572438_ChIP-Seq_LNCaP_Human1.07924715
140CEBPB_22108803_ChIP-Seq_LS180_Human1.07717176
141IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.07545978
142P53_21459846_ChIP-Seq_SAOS-2_Human1.07354909
143AR_21909140_ChIP-Seq_LNCAP_Human1.07052398
144WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.06432006
145BMI1_23680149_ChIP-Seq_NPCS_Mouse1.06291682
146VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.05684509
147GATA4_25053715_ChIP-Seq_YYC3_Human1.05407956
148E2F1_20622854_ChIP-Seq_HELA_Human1.04715217
149RBPJ_22232070_ChIP-Seq_NCS_Mouse1.04695979
150IRF1_19129219_ChIP-ChIP_H3396_Human1.03913974
151CTCF_20526341_ChIP-Seq_ESCs_Human1.03586720
152NANOG_19829295_ChIP-Seq_ESCs_Human1.02915545
153SOX2_19829295_ChIP-Seq_ESCs_Human1.02915545
154GATA6_21074721_ChIP-Seq_CACO-2_Human1.02680890
155ELF5_23300383_ChIP-Seq_T47D_Human1.02317894
156PIAS1_25552417_ChIP-Seq_VCAP_Human1.02310842
157AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.02141334
158EST1_17652178_ChIP-ChIP_JURKAT_Human1.01320814
159VDR_24787735_ChIP-Seq_THP-1_Human1.01200381
160ERG_20887958_ChIP-Seq_HPC-7_Mouse1.01166250
161ERG_20517297_ChIP-Seq_VCAP_Human1.00251511
162SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00218337
163SMAD4_21741376_ChIP-Seq_EPCs_Human0.99808067
164TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.99228980
165* ZNF217_24962896_ChIP-Seq_MCF-7_Human0.98426365
166* GATA3_24758297_ChIP-Seq_MCF-7_Human0.98353661
167GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.96602131
168JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.96208485
169* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.96206941
170SUZ12_27294783_Chip-Seq_NPCs_Mouse0.95658621
171FUS_26573619_Chip-Seq_HEK293_Human0.95296751
172MYC_18555785_ChIP-Seq_MESCs_Mouse0.95147366
173GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94813827
174GATA3_26560356_Chip-Seq_TH2_Human0.94754661
175ERG_21242973_ChIP-ChIP_JURKAT_Human0.93345012
176LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.93129506
177RACK7_27058665_Chip-Seq_MCF-7_Human0.91069642
178XRN2_22483619_ChIP-Seq_HELA_Human0.90817465
179HOXB4_20404135_ChIP-ChIP_EML_Mouse0.90203687
180SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.90114092
181MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.87604609
182NCOR1_26117541_ChIP-Seq_K562_Human0.84655995
183GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.83874343
184PU_27001747_Chip-Seq_BMDM_Mouse0.83107319
185GATA1_19941827_ChIP-Seq_MEL_Mouse0.81911727
186DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.81275412
187ZFP281_27345836_Chip-Seq_ESCs_Mouse0.80653495
188FOXO3_23340844_ChIP-Seq_DLD1_Human0.80558277
189DNAJC2_21179169_ChIP-ChIP_NT2_Human0.78309289
190SA1_27219007_Chip-Seq_ERYTHROID_Human0.76821731
191PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.75628860
192CTCF_21964334_ChIP-Seq_BJAB-B_Human0.74918412

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003879_abnormal_hair_cell7.36870129
2MP0005377_hearing/vestibular/ear_phenot7.23478125
3MP0003878_abnormal_ear_physiology7.23478125
4MP0001485_abnormal_pinna_reflex5.99357486
5MP0008875_abnormal_xenobiotic_pharmacok3.67760137
6MP0001963_abnormal_hearing_physiology3.55385964
7MP0000026_abnormal_inner_ear3.25854572
8MP0002396_abnormal_hematopoietic_system3.03984313
9MP0005083_abnormal_biliary_tract2.48489137
10MP0002876_abnormal_thyroid_physiology2.48369874
11MP0009278_abnormal_bone_marrow2.44858630
12MP0004808_abnormal_hematopoietic_stem2.32881384
13MP0004043_abnormal_pH_regulation2.11317642
14MP0010386_abnormal_urinary_bladder2.05154797
15MP0005365_abnormal_bile_salt1.95568710
16MP0002735_abnormal_chemical_nociception1.93957832
17MP0002638_abnormal_pupillary_reflex1.91067672
18MP0005645_abnormal_hypothalamus_physiol1.85237841
19MP0004133_heterotaxia1.83801099
20MP0005551_abnormal_eye_electrophysiolog1.76756657
21MP0001984_abnormal_olfaction1.75071205
22MP0005397_hematopoietic_system_phenotyp1.74466194
23MP0001545_abnormal_hematopoietic_system1.74466194
24MP0003195_calcinosis1.72473896
25MP0000685_abnormal_immune_system1.69304829
26MP0008872_abnormal_physiological_respon1.63948505
27MP0009333_abnormal_splenocyte_physiolog1.63093380
28MP0001986_abnormal_taste_sensitivity1.61475247
29MP0005085_abnormal_gallbladder_physiolo1.60932792
30MP0004019_abnormal_vitamin_homeostasis1.58886749
31MP0001919_abnormal_reproductive_system1.57886184
32MP0005253_abnormal_eye_physiology1.56708116
33MP0001765_abnormal_ion_homeostasis1.55990958
34MP0004885_abnormal_endolymph1.54963935
35MP0002166_altered_tumor_susceptibility1.54507798
36MP0003011_delayed_dark_adaptation1.53993586
37MP0004264_abnormal_extraembryonic_tissu1.52848124
38MP0000569_abnormal_digit_pigmentation1.51329820
39MP0003303_peritoneal_inflammation1.45003648
40MP0002089_abnormal_postnatal_growth/wei1.44969268
41MP0002398_abnormal_bone_marrow1.42459307
42MP0000372_irregular_coat_pigmentation1.41780062
43MP0003136_yellow_coat_color1.41510362
44MP0001502_abnormal_circadian_rhythm1.41161176
45MP0005389_reproductive_system_phenotype1.40415127
46MP0008789_abnormal_olfactory_epithelium1.40348717
47MP0001800_abnormal_humoral_immune1.38583648
48MP0002160_abnormal_reproductive_system1.37956126
49MP0002132_abnormal_respiratory_system1.34174149
50MP0005670_abnormal_white_adipose1.31585895
51MP0002932_abnormal_joint_morphology1.30749707
52MP0000049_abnormal_middle_ear1.30141939
53MP0000703_abnormal_thymus_morphology1.27514183
54MP0001835_abnormal_antigen_presentation1.25275318
55MP0005084_abnormal_gallbladder_morpholo1.24995717
56MP0009046_muscle_twitch1.24839111
57MP0002452_abnormal_antigen_presenting1.23990805
58MP0002420_abnormal_adaptive_immunity1.23468735
59MP0002282_abnormal_trachea_morphology1.23238128
60MP0000465_gastrointestinal_hemorrhage1.22067003
61MP0001764_abnormal_homeostasis1.21898385
62MP0005636_abnormal_mineral_homeostasis1.21620995
63MP0001819_abnormal_immune_cell1.20697208
64MP0006072_abnormal_retinal_apoptosis1.20379048
65MP0000383_abnormal_hair_follicle1.18724366
66MP0008007_abnormal_cellular_replicative1.17828188
67MP0000716_abnormal_immune_system1.16668014
68MP0002722_abnormal_immune_system1.15852986
69MP0005174_abnormal_tail_pigmentation1.15380522
70MP0004134_abnormal_chest_morphology1.15325621
71MP0000689_abnormal_spleen_morphology1.15236861
72MP0010094_abnormal_chromosome_stability1.14748903
73MP0002909_abnormal_adrenal_gland1.14419298
74MP0000566_synostosis1.13851680
75MP0001968_abnormal_touch/_nociception1.12892810
76MP0008877_abnormal_DNA_methylation1.12389074
77MP0000013_abnormal_adipose_tissue1.11506808
78MP0010678_abnormal_skin_adnexa1.09167325
79MP0003938_abnormal_ear_development1.07215308
80MP0003111_abnormal_nucleus_morphology1.07146902
81MP0002429_abnormal_blood_cell1.06963622
82MP0002933_joint_inflammation1.05709089
83MP0003436_decreased_susceptibility_to1.05417586
84MP0002419_abnormal_innate_immunity1.05094450
85MP0009780_abnormal_chondrocyte_physiolo1.04997409
86MP0005075_abnormal_melanosome_morpholog1.04010307
87MP0002653_abnormal_ependyma_morphology1.03851859
88MP0000490_abnormal_crypts_of1.03393919
89MP0001663_abnormal_digestive_system1.03279651
90MP0003693_abnormal_embryo_hatching1.03227573
91MP0003787_abnormal_imprinting1.02541657
92MP0002006_tumorigenesis1.02283425
93MP0000538_abnormal_urinary_bladder1.00392056
94MP0002723_abnormal_immune_serum0.99909989
95MP0003183_abnormal_peptide_metabolism0.99497558
96MP0005025_abnormal_response_to0.99456180
97MP0010234_abnormal_vibrissa_follicle0.98856749
98MP0005000_abnormal_immune_tolerance0.98509588
99MP0009745_abnormal_behavioral_response0.98101042
100MP0002098_abnormal_vibrissa_morphology0.97330450
101MP0005671_abnormal_response_to0.96551477
102MP0003718_maternal_effect0.96314038
103MP0003763_abnormal_thymus_physiology0.95081327
104MP0001881_abnormal_mammary_gland0.94652888
105MP0002405_respiratory_system_inflammati0.92362595
106MP0001533_abnormal_skeleton_physiology0.90679408
107MP0001905_abnormal_dopamine_level0.90430844
108MP0002693_abnormal_pancreas_physiology0.90236047
109MP0005310_abnormal_salivary_gland0.89201052
110MP0009643_abnormal_urine_homeostasis0.88552793
111MP0001790_abnormal_immune_system0.88422514
112MP0005387_immune_system_phenotype0.88422514
113MP0003077_abnormal_cell_cycle0.88027240
114MP0005408_hypopigmentation0.87778741
115MP0006276_abnormal_autonomic_nervous0.87690426
116MP0009785_altered_susceptibility_to0.86987398
117MP0005508_abnormal_skeleton_morphology0.86560668
118MP0005646_abnormal_pituitary_gland0.85473640
119MP0003567_abnormal_fetal_cardiomyocyte0.84787455
120MP0003941_abnormal_skin_development0.84765477
121MP0006054_spinal_hemorrhage0.84698544
122MP0001501_abnormal_sleep_pattern0.84676007
123MP0002136_abnormal_kidney_physiology0.84343646
124MP0005390_skeleton_phenotype0.83697032
125MP0002928_abnormal_bile_duct0.83203611
126MP0000371_diluted_coat_color0.82696314
127MP0003705_abnormal_hypodermis_morpholog0.82418127
128MP0010307_abnormal_tumor_latency0.82114240
129MP0005464_abnormal_platelet_physiology0.81947270
130MP0010155_abnormal_intestine_physiology0.81639534
131MP0004381_abnormal_hair_follicle0.80141433
132MP0001666_abnormal_nutrient_absorption0.80054708
133MP0000631_abnormal_neuroendocrine_gland0.79934504
134MP0001664_abnormal_digestion0.79438053
135MP0001849_ear_inflammation0.78752385
136MP0004957_abnormal_blastocyst_morpholog0.77992082
137MP0000015_abnormal_ear_pigmentation0.77121896
138MP0004782_abnormal_surfactant_physiolog0.76504234
139MP0001929_abnormal_gametogenesis0.76378658
140MP0002229_neurodegeneration0.76152568
141MP0003300_gastrointestinal_ulcer0.75845545
142MP0003950_abnormal_plasma_membrane0.75459213
143MP0000427_abnormal_hair_cycle0.75084401
144MP0002168_other_aberrant_phenotype0.75049347
145MP0004742_abnormal_vestibular_system0.74427297
146MP0005395_other_phenotype0.73421873
147MP0004142_abnormal_muscle_tone0.72502419
148MP0002557_abnormal_social/conspecific_i0.70809054
149MP0002019_abnormal_tumor_incidence0.70770717
150MP0000613_abnormal_salivary_gland0.70259794
151MP0005379_endocrine/exocrine_gland_phen0.70064350
152MP0003172_abnormal_lysosome_physiology0.69482250
153MP0002009_preneoplasia0.66966177
154MP0001873_stomach_inflammation0.65848035
155MP0003115_abnormal_respiratory_system0.64791311
156MP0001486_abnormal_startle_reflex0.64426965
157MP0008770_decreased_survivor_rate0.63983189
158MP0002148_abnormal_hypersensitivity_rea0.63308297
159MP0005076_abnormal_cell_differentiation0.61678330
160MP0010352_gastrointestinal_tract_polyps0.61589857
161MP0002115_abnormal_skeleton_extremities0.60962721
162MP0001853_heart_inflammation0.60898602
163MP0002249_abnormal_larynx_morphology0.59747109
164MP0001286_abnormal_eye_development0.55372613
165MP0000313_abnormal_cell_death0.53012741
166MP0002277_abnormal_respiratory_mucosa0.52163238
167MP0000350_abnormal_cell_proliferation0.52048999
168MP0002111_abnormal_tail_morphology0.50811350
169MP0003943_abnormal_hepatobiliary_system0.50693134
170MP0000428_abnormal_craniofacial_morphol0.50271993
171MP0001851_eye_inflammation0.50014319
172MP0003866_abnormal_defecation0.49629230
173MP0000377_abnormal_hair_follicle0.48418313

Predicted human phenotypes

RankGene SetZ-score
1Epiphyseal dysplasia (HP:0002656)7.95634136
2Abnormal respiratory motile cilium morphology (HP:0005938)7.91832681
3Abnormal respiratory epithelium morphology (HP:0012253)7.91832681
4Respiratory insufficiency due to defective ciliary clearance (HP:0200073)7.50390097
5Dynein arm defect of respiratory motile cilia (HP:0012255)7.50023509
6Absent/shortened dynein arms (HP:0200106)7.50023509
7Abnormal ciliary motility (HP:0012262)7.41672087
8Abnormal respiratory motile cilium physiology (HP:0012261)7.22474317
9Mixed hearing impairment (HP:0000410)6.73931080
10Rhinitis (HP:0012384)6.47648790
11Aplasia/Hypoplasia of the pubic bone (HP:0009104)5.91158154
12Bronchiectasis (HP:0002110)5.45608009
13Anomalous pulmonary venous return (HP:0010772)5.43782046
14Chronic bronchitis (HP:0004469)5.39162598
15Hypoplastic ischia (HP:0003175)5.23793541
16Unilateral renal agenesis (HP:0000122)5.14833547
17Absent epiphyses (HP:0010577)4.79887097
18Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)4.79887097
19Abnormality of the intervertebral disk (HP:0005108)4.66630913
20Abnormality of the pulmonary veins (HP:0011718)4.64447768
21Bilateral microphthalmos (HP:0007633)4.56251649
22Abnormality of the ischium (HP:0003174)4.43302357
23Pancreatic cysts (HP:0001737)4.25948954
24Pancreatic fibrosis (HP:0100732)4.19629489
25Vertebral clefting (HP:0008428)4.13437367
26True hermaphroditism (HP:0010459)4.05943054
27Aplasia/Hypoplasia of the fovea (HP:0008060)4.01040053
28Hypoplasia of the fovea (HP:0007750)4.01040053
29Irregular epiphyses (HP:0010582)4.00083210
30Abnormal vertebral ossification (HP:0100569)3.93308003
31Nasal polyposis (HP:0100582)3.86337683
32Cystic liver disease (HP:0006706)3.78946842
33Abnormality of the pubic bones (HP:0003172)3.75012938
34Bronchitis (HP:0012387)3.74146751
35Small epiphyses (HP:0010585)3.64626305
36Lip pit (HP:0100267)3.58384526
37Recurrent sinusitis (HP:0011108)3.54742767
38Severe Myopia (HP:0011003)3.54187846
39Flared metaphyses (HP:0003015)3.43345367
40Vitreoretinal degeneration (HP:0000655)3.39837028
41Enlarged epiphyses (HP:0010580)3.31513831
42Bell-shaped thorax (HP:0001591)3.29362334
43Mild short stature (HP:0003502)3.27184392
44Flattened epiphyses (HP:0003071)3.22118757
45Nephronophthisis (HP:0000090)3.16170094
46Abnormality of the fovea (HP:0000493)3.11642026
47Vertebral arch anomaly (HP:0008438)3.08598734
48Chronic otitis media (HP:0000389)3.03537785
49Abnormality of the renal medulla (HP:0100957)2.95758593
50Glossoptosis (HP:0000162)2.94227684
51Abnormality of the nasal mucosa (HP:0000433)2.93480027
52Synostosis involving the elbow (HP:0003938)2.93219970
53Humeroradial synostosis (HP:0003041)2.93219970
54Tubular atrophy (HP:0000092)2.92757172
55Multifactorial inheritance (HP:0001426)2.91886390
56Abnormality of the renal cortex (HP:0011035)2.84700422
57Exostoses (HP:0100777)2.84011424
58IgM deficiency (HP:0002850)2.80980368
59Recurrent pneumonia (HP:0006532)2.77196359
60Congenital stationary night blindness (HP:0007642)2.77189535
61Hyperactive renin-angiotensin system (HP:0000841)2.72218840
62B lymphocytopenia (HP:0010976)2.70407544
63Abnormality of B cell number (HP:0010975)2.70407544
64Cellulitis (HP:0100658)2.69613129
65Abnormal biliary tract physiology (HP:0012439)2.67267634
66Bile duct proliferation (HP:0001408)2.67267634
67Chronic hepatic failure (HP:0100626)2.67025892
68Recurrent otitis media (HP:0000403)2.62810881
69Aplasia/Hypoplasia of the macula (HP:0008059)2.57551866
70Recurrent bacterial skin infections (HP:0005406)2.54678900
71Acute lymphatic leukemia (HP:0006721)2.52686389
72Decreased circulating renin level (HP:0003351)2.52530889
73Fused cervical vertebrae (HP:0002949)2.52306791
74Platyspondyly (HP:0000926)2.51732747
75Infertility (HP:0000789)2.51469618
76Oligodactyly (HP:0012165)2.50992432
77Occipital encephalocele (HP:0002085)2.48713949
78Protuberant abdomen (HP:0001538)2.47357890
79Thrombocytosis (HP:0001894)2.45492589
80Congenital hepatic fibrosis (HP:0002612)2.44918509
81Morphological abnormality of the middle ear (HP:0008609)2.44157931
82Agammaglobulinemia (HP:0004432)2.39640534
83Abnormality of midbrain morphology (HP:0002418)2.33980362
84Molar tooth sign on MRI (HP:0002419)2.33980362
85Aplasia/Hypoplasia affecting the retina (HP:0008061)2.32560438
86Polydipsia (HP:0001959)2.32485933
87Abnormal drinking behavior (HP:0030082)2.32485933
88Osteoarthritis (HP:0002758)2.32424994
89Reticulocytopenia (HP:0001896)2.32291483
90Panhypogammaglobulinemia (HP:0003139)2.32118015
91Partial duplication of thumb phalanx (HP:0009944)2.29725752
92Sclerocornea (HP:0000647)2.29383673
93Oral leukoplakia (HP:0002745)2.29138214
94Sprengel anomaly (HP:0000912)2.27942177
95Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.27714860
96Renal salt wasting (HP:0000127)2.26512088
97Thyroiditis (HP:0100646)2.25859430
98Male pseudohermaphroditism (HP:0000037)2.24668013
99Aplasia/Hypoplasia of the spleen (HP:0010451)2.23090055
100Meningitis (HP:0001287)2.22890552
101Congenital sensorineural hearing impairment (HP:0008527)2.22195019
102Recurrent bronchitis (HP:0002837)2.13877216
103Rhizomelia (HP:0008905)2.13656061
104Concave nail (HP:0001598)2.11523104
105Recurrent corneal erosions (HP:0000495)2.10569671
106Furrowed tongue (HP:0000221)2.10514355
107Papilloma (HP:0012740)2.09113755
108Verrucae (HP:0200043)2.09113755
109Genu varum (HP:0002970)2.08483369
110Asplenia (HP:0001746)2.07664247
111Abnormality of renin-angiotensin system (HP:0000847)2.06189690
112Recurrent viral infections (HP:0004429)2.03015060
113Medial flaring of the eyebrow (HP:0010747)2.02417500
114Abolished electroretinogram (ERG) (HP:0000550)2.02228576
115Large for gestational age (HP:0001520)2.00294777
116Abnormality of cells of the erythroid lineage (HP:0012130)1.99452973
117Tubulointerstitial nephritis (HP:0001970)1.97265401
118Hyperventilation (HP:0002883)1.97091704
119Anencephaly (HP:0002323)1.96508870
120Abnormal number of erythroid precursors (HP:0012131)1.95617619
121Hypoplasia of the thymus (HP:0000778)1.94813874
122Postaxial foot polydactyly (HP:0001830)1.94091246
123Absent eyelashes (HP:0000561)1.94036711
124Hypoplastic ilia (HP:0000946)1.93935226
125Renal agenesis (HP:0000104)1.93040499
126Recurrent lower respiratory tract infections (HP:0002783)1.92446744
127Abnormality of the fingertips (HP:0001211)1.90114022
128Partial duplication of the phalanx of hand (HP:0009999)1.88574701
129Morphological abnormality of the inner ear (HP:0011390)1.88080825
130Type II lissencephaly (HP:0007260)1.86813763
131Elevated erythrocyte sedimentation rate (HP:0003565)1.86744500
132Preauricular skin tag (HP:0000384)1.86660848
133Squamous cell carcinoma (HP:0002860)1.86472539
134Arterial tortuosity (HP:0005116)1.84519794
135Bicuspid aortic valve (HP:0001647)1.83290984
136Polyuria (HP:0000103)1.81230072
137Recurrent fungal infections (HP:0002841)1.80582421
138Spondylolisthesis (HP:0003302)1.80447949
139Chronic sinusitis (HP:0011109)1.80062617
140Retinopathy (HP:0000488)1.79478986
141Skin tags (HP:0010609)1.79099371
142Aplasia/Hypoplasia of the tongue (HP:0010295)1.78821627
143Renal dysplasia (HP:0000110)1.78520811
144Decreased central vision (HP:0007663)1.76629486
145Spina bifida occulta (HP:0003298)1.76602290
146Colitis (HP:0002583)1.75671024
147Alopecia of scalp (HP:0002293)1.73844619
148Hyperacusis (HP:0010780)1.72214621
149Gastrointestinal inflammation (HP:0004386)1.72021176
150Abnormality of chloride homeostasis (HP:0011422)1.71015054
151Plagiocephaly (HP:0001357)1.70783858
152Papillary thyroid carcinoma (HP:0002895)1.70080809
153Alkalosis (HP:0001948)1.68985571
154Hyperaldosteronism (HP:0000859)1.66975842
155Abnormality of renal excretion (HP:0011036)1.66839036
156Clumsiness (HP:0002312)1.66449792
157Abnormality of the vitreous humor (HP:0004327)1.66342771
158Abnormality of the salivary glands (HP:0010286)1.66233145
159Recurrent cutaneous fungal infections (HP:0011370)1.65163181
160Chronic mucocutaneous candidiasis (HP:0002728)1.65163181
161Hyperkalemia (HP:0002153)1.62363009
162Hypokalemic alkalosis (HP:0001949)1.62344461
163Ventricular fibrillation (HP:0001663)1.60392975
164Cheilitis (HP:0100825)1.57980676
165Keratoconus (HP:0000563)1.57289547
166Increased corneal curvature (HP:0100692)1.57289547
167Stomach cancer (HP:0012126)1.53159777
168Hypoplasia of the uterus (HP:0000013)1.50666171
169Aplasia/Hypoplasia involving the musculature (HP:0001460)1.50171913
170Pendular nystagmus (HP:0012043)1.48414714
171Abnormality of macular pigmentation (HP:0008002)1.47931818
172Male infertility (HP:0003251)1.47084239
173Abnormal urine output (HP:0012590)1.46582175
174Tongue fasciculations (HP:0001308)1.46167664
175Abnormal rod and cone electroretinograms (HP:0008323)1.46020624
176Tubulointerstitial fibrosis (HP:0005576)1.44800827
177Absent speech (HP:0001344)1.43627714
178IgG deficiency (HP:0004315)1.42649473
179Absent rod-and cone-mediated responses on ERG (HP:0007688)1.42467914
180Oculomotor apraxia (HP:0000657)1.42056508
181Nephropathy (HP:0000112)1.41496909
182Congenital primary aphakia (HP:0007707)1.41199350
183Preaxial hand polydactyly (HP:0001177)1.40582704
184Supernumerary spleens (HP:0009799)1.40327715
185Gait imbalance (HP:0002141)1.39042855
186Abnormality of the pons (HP:0007361)1.36272742
187Azoospermia (HP:0000027)1.34877886
188Tubulointerstitial abnormality (HP:0001969)1.34476344
189Aplasia/hypoplasia of the uterus (HP:0008684)1.33815651
190Cerebellar dysplasia (HP:0007033)1.30951668
191Volvulus (HP:0002580)1.30115961
192Oligohydramnios (HP:0001562)1.29137904
193Disproportionate short-trunk short stature (HP:0003521)1.28655686

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR29.63538820
2MAPK156.09271644
3EPHA24.22536276
4NME14.07327270
5EEF2K4.01502422
6MAP3K103.76617054
7FRK3.76192137
8MST43.22181648
9TRPM72.71929921
10PKN22.64127022
11ADRBK22.64005307
12TRIB32.52911789
13INSRR2.47840171
14FLT32.38737238
15GRK12.32023388
16TXK2.25533457
17KIT2.18916177
18WNK42.16095952
19MAP4K12.10948381
20TNIK1.93865385
21GRK61.91432079
22MST1R1.89193282
23FES1.84893963
24BTK1.84061541
25PIM21.81360964
26BMPR1B1.77965456
27CSF1R1.66484352
28DYRK1B1.55609230
29TRIM281.54327637
30OXSR11.53000810
31RIPK41.52157131
32TESK21.51820263
33PINK11.50970181
34MAP2K21.46927566
35PTK61.44536400
36LRRK21.37364412
37TEC1.36982096
38RPS6KB21.34567861
39PRKCI1.30743744
40BCR1.30365142
41CDC71.27836689
42STK241.27614786
43CDK61.22095677
44EPHB11.21611065
45STK38L1.20441363
46SIK31.19370120
47UHMK11.17727494
48YES11.17127617
49TAOK31.15727027
50WNK31.15531079
51TSSK61.14837568
52ERN11.13633265
53BRSK21.12629548
54PIM11.11775678
55NUAK11.09277924
56SIK11.06040227
57HIPK21.05288001
58MAP4K21.04547444
59MAP2K61.04042702
60MARK31.02514241
61SYK0.99649728
62MAP3K40.99404513
63ZAK0.99087485
64MUSK0.97348926
65STK40.95477486
66SIK20.95133024
67NLK0.92483295
68IKBKB0.92352200
69NEK60.90946542
70FGFR30.90675966
71STK390.90633483
72IKBKE0.90032457
73MAPK40.87708267
74IRAK40.87204229
75EPHA30.87147864
76NEK20.82540703
77EIF2AK30.81360857
78NEK10.80819147
79HCK0.78903885
80ERBB20.78874330
81MAPK130.78599483
82STK160.76646729
83LYN0.75094247
84TLK10.73765972
85STK100.73467910
86DYRK20.72728221
87BRD40.70879655
88PAK40.70166338
89PRKCQ0.69069462
90WEE10.68510137
91PRKCE0.68105470
92CLK10.67632287
93CHUK0.67618943
94PAK30.67617003
95CDK80.66543465
96PDK20.66482057
97RPS6KC10.66040347
98RPS6KL10.66040347
99ITK0.64789361
100RAF10.64449847
101RPS6KA50.63964095
102MAPKAPK30.63741114
103RPS6KA60.61021221
104SCYL20.60937914
105EIF2AK10.59635244
106PIK3CA0.59037101
107BLK0.56894824
108MAP2K70.56412396
109PRKD20.56347685
110CDK40.56334714
111LCK0.56048348
112PNCK0.54145811
113TIE10.52949083
114MAPK110.51061354
115IRAK10.51056663
116RIPK10.50985371
117MAP3K70.50130455
118TYK20.49090113
119CDK190.49034903
120PTK2B0.48719745
121TBK10.47835103
122JAK10.46869080
123PASK0.46343344
124ZAP700.46164072
125ADRBK10.45729608
126ALK0.45544198
127JAK30.44250790
128ATR0.44129856
129VRK20.43291152
130JAK20.41964345
131MAP3K130.40788495
132BCKDK0.40413302
133PRKAA10.40166341
134TNK20.39953536
135BMX0.39858506
136ACVR1B0.39617175
137MAPKAPK20.39032901
138CSNK1A10.38939495
139CASK0.38470691
140MKNK10.36469199
141SRPK10.36353100
142RPS6KA20.36161606
143ABL10.35678438
144MAP3K80.35308555
145FGFR40.34924969
146MAP3K140.34878847
147DMPK0.34474809
148MKNK20.34255585
149DYRK30.34218095
150PRKCG0.34215677
151PRKCD0.33824796
152CHEK10.33679637
153PRKCA0.33466435
154PRKAA20.33346591
155PRKACA0.32365522
156MAP2K10.31737368
157PAK20.31695721
158CSK0.31219151
159CSNK2A10.30999364
160IGF1R0.29451498
161MET0.28562187
162ERBB30.28261467
163MAPKAPK50.28070518
164FER0.27321666
165CSNK2A20.27276894
166CAMKK10.26951944
167DAPK10.25285572
168MATK0.24785459
169MAP2K30.22518695
170BUB10.21994510
171AURKB0.21413590
172VRK10.21291721
173ILK0.21122232
174EGFR0.20899134
175ICK0.20405906
176AKT20.20306976
177RET0.20168426
178MARK20.19738317
179MAPK30.18551422

Predicted pathways (KEGG)

RankGene SetZ-score
1Other types of O-glycan biosynthesis_Homo sapiens_hsa005144.16781130
2Primary immunodeficiency_Homo sapiens_hsa053403.22044990
3Non-homologous end-joining_Homo sapiens_hsa034502.97456704
4DNA replication_Homo sapiens_hsa030302.84732354
5Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.52632116
6Notch signaling pathway_Homo sapiens_hsa043302.48216525
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.44622027
8B cell receptor signaling pathway_Homo sapiens_hsa046622.40413575
9Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.35833390
10Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.32499675
11Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.21563630
12Histidine metabolism_Homo sapiens_hsa003402.19819592
13Chemical carcinogenesis_Homo sapiens_hsa052042.18130129
14Linoleic acid metabolism_Homo sapiens_hsa005912.12768620
15Phototransduction_Homo sapiens_hsa047442.10116618
16Ribosome_Homo sapiens_hsa030102.08316851
17Cyanoamino acid metabolism_Homo sapiens_hsa004602.08190873
18Chronic myeloid leukemia_Homo sapiens_hsa052202.06437846
19Protein export_Homo sapiens_hsa030602.02476880
20Caffeine metabolism_Homo sapiens_hsa002322.01716081
21Mismatch repair_Homo sapiens_hsa034301.98783085
22Nitrogen metabolism_Homo sapiens_hsa009101.95237316
23Base excision repair_Homo sapiens_hsa034101.94415878
24Other glycan degradation_Homo sapiens_hsa005111.83148277
25Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.81472774
26Transcriptional misregulation in cancer_Homo sapiens_hsa052021.80233093
27Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.74609747
28Leishmaniasis_Homo sapiens_hsa051401.72422688
29Taste transduction_Homo sapiens_hsa047421.67897143
30Proteasome_Homo sapiens_hsa030501.64920707
31Type I diabetes mellitus_Homo sapiens_hsa049401.63248658
32Allograft rejection_Homo sapiens_hsa053301.61904806
33Maturity onset diabetes of the young_Homo sapiens_hsa049501.61684871
34beta-Alanine metabolism_Homo sapiens_hsa004101.61447894
35Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.59490880
36N-Glycan biosynthesis_Homo sapiens_hsa005101.56799087
37ABC transporters_Homo sapiens_hsa020101.51358186
38Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.51300237
39Butanoate metabolism_Homo sapiens_hsa006501.50176542
40Acute myeloid leukemia_Homo sapiens_hsa052211.47112219
41Autoimmune thyroid disease_Homo sapiens_hsa053201.46515097
42Graft-versus-host disease_Homo sapiens_hsa053321.44736033
43Small cell lung cancer_Homo sapiens_hsa052221.43263677
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.40752419
45Oxidative phosphorylation_Homo sapiens_hsa001901.39989435
46Protein digestion and absorption_Homo sapiens_hsa049741.39418778
47alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.37465654
48Osteoclast differentiation_Homo sapiens_hsa043801.36568543
49Lysine degradation_Homo sapiens_hsa003101.35768270
50Spliceosome_Homo sapiens_hsa030401.35465931
51Selenocompound metabolism_Homo sapiens_hsa004501.35135412
52Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.35114319
53Colorectal cancer_Homo sapiens_hsa052101.34385522
54Huntingtons disease_Homo sapiens_hsa050161.33738103
55Basal cell carcinoma_Homo sapiens_hsa052171.32854274
56Tryptophan metabolism_Homo sapiens_hsa003801.30354775
57Retinol metabolism_Homo sapiens_hsa008301.29907837
58Leukocyte transendothelial migration_Homo sapiens_hsa046701.27716569
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.26025816
60Hematopoietic cell lineage_Homo sapiens_hsa046401.24769244
61Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.24401903
62Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.24288334
63Peroxisome_Homo sapiens_hsa041461.23251751
64Dorso-ventral axis formation_Homo sapiens_hsa043201.21027395
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.20263160
66Vitamin digestion and absorption_Homo sapiens_hsa049771.19218431
67Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.18972499
68Circadian rhythm_Homo sapiens_hsa047101.18871768
69Herpes simplex infection_Homo sapiens_hsa051681.18361457
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.17290770
71Phenylalanine metabolism_Homo sapiens_hsa003601.17015636
72Nicotine addiction_Homo sapiens_hsa050331.15731820
73Hepatitis B_Homo sapiens_hsa051611.15489410
74Non-small cell lung cancer_Homo sapiens_hsa052231.14732470
75Glutathione metabolism_Homo sapiens_hsa004801.13762965
76Steroid hormone biosynthesis_Homo sapiens_hsa001401.11270763
77Pentose phosphate pathway_Homo sapiens_hsa000301.10142288
78Fanconi anemia pathway_Homo sapiens_hsa034601.09866909
79Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.09313541
80One carbon pool by folate_Homo sapiens_hsa006701.08307744
81Thyroid cancer_Homo sapiens_hsa052161.08284434
82HTLV-I infection_Homo sapiens_hsa051661.08118399
83Asthma_Homo sapiens_hsa053101.08115488
84Cell cycle_Homo sapiens_hsa041101.07885835
85Primary bile acid biosynthesis_Homo sapiens_hsa001201.06283856
86Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.04935543
87NF-kappa B signaling pathway_Homo sapiens_hsa040641.03712056
88Measles_Homo sapiens_hsa051621.03526531
89Pancreatic cancer_Homo sapiens_hsa052121.01127062
90RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.00602927
91TGF-beta signaling pathway_Homo sapiens_hsa043500.99739302
92Homologous recombination_Homo sapiens_hsa034400.99651854
93Antigen processing and presentation_Homo sapiens_hsa046120.99085879
94Hippo signaling pathway_Homo sapiens_hsa043900.98806281
95Toxoplasmosis_Homo sapiens_hsa051450.97349104
96Systemic lupus erythematosus_Homo sapiens_hsa053220.97293270
97Tyrosine metabolism_Homo sapiens_hsa003500.95927308
98Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.95217894
99Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.94053922
100Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.93793242
101Collecting duct acid secretion_Homo sapiens_hsa049660.91762356
102Neurotrophin signaling pathway_Homo sapiens_hsa047220.89415793
103Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.88944413
104MicroRNAs in cancer_Homo sapiens_hsa052060.88391032
105Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.87482470
106Viral carcinogenesis_Homo sapiens_hsa052030.86549460
107Ether lipid metabolism_Homo sapiens_hsa005650.85102984
108Central carbon metabolism in cancer_Homo sapiens_hsa052300.84994656
109Glioma_Homo sapiens_hsa052140.84929850
110AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.84741136
111Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.84299298
112Arachidonic acid metabolism_Homo sapiens_hsa005900.82525081
113Intestinal immune network for IgA production_Homo sapiens_hsa046720.81398391
114Proteoglycans in cancer_Homo sapiens_hsa052050.77167460
115ECM-receptor interaction_Homo sapiens_hsa045120.76563484
116Sphingolipid metabolism_Homo sapiens_hsa006000.76372826
117T cell receptor signaling pathway_Homo sapiens_hsa046600.76225584
118Jak-STAT signaling pathway_Homo sapiens_hsa046300.76199857
119Toll-like receptor signaling pathway_Homo sapiens_hsa046200.75546914
120Platelet activation_Homo sapiens_hsa046110.72336498
121Apoptosis_Homo sapiens_hsa042100.72200823
122Hepatitis C_Homo sapiens_hsa051600.72189789
123Sulfur metabolism_Homo sapiens_hsa009200.71816149
124Endometrial cancer_Homo sapiens_hsa052130.71552909
125Pathways in cancer_Homo sapiens_hsa052000.71529969
126Inositol phosphate metabolism_Homo sapiens_hsa005620.71444365
127Carbohydrate digestion and absorption_Homo sapiens_hsa049730.69580325
128Shigellosis_Homo sapiens_hsa051310.67944879
129Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.66879555
130Prostate cancer_Homo sapiens_hsa052150.66739063
131Wnt signaling pathway_Homo sapiens_hsa043100.64848928
132Parkinsons disease_Homo sapiens_hsa050120.64804655
133Bladder cancer_Homo sapiens_hsa052190.64708571
134Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.64104988
135Rheumatoid arthritis_Homo sapiens_hsa053230.63857608
136Pentose and glucuronate interconversions_Homo sapiens_hsa000400.63495143
137Focal adhesion_Homo sapiens_hsa045100.61912194
138Chemokine signaling pathway_Homo sapiens_hsa040620.61109203
139NOD-like receptor signaling pathway_Homo sapiens_hsa046210.60332804
140Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.60027070
141Metabolic pathways_Homo sapiens_hsa011000.59247143
142RNA degradation_Homo sapiens_hsa030180.58804019
143Regulation of autophagy_Homo sapiens_hsa041400.57821459
144mRNA surveillance pathway_Homo sapiens_hsa030150.57093535
145TNF signaling pathway_Homo sapiens_hsa046680.56579805
146VEGF signaling pathway_Homo sapiens_hsa043700.56168088
147Morphine addiction_Homo sapiens_hsa050320.54045732
148Tuberculosis_Homo sapiens_hsa051520.53642261
149Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.53356805
150Alcoholism_Homo sapiens_hsa050340.52816876
151Malaria_Homo sapiens_hsa051440.52280783
152ErbB signaling pathway_Homo sapiens_hsa040120.51833297
153Phosphatidylinositol signaling system_Homo sapiens_hsa040700.50056630
154Influenza A_Homo sapiens_hsa051640.49505417
155Insulin signaling pathway_Homo sapiens_hsa049100.48995175
156Vitamin B6 metabolism_Homo sapiens_hsa007500.48862180
157Epstein-Barr virus infection_Homo sapiens_hsa051690.48680089
158RNA polymerase_Homo sapiens_hsa030200.48263337
159Pertussis_Homo sapiens_hsa051330.48122496
160Olfactory transduction_Homo sapiens_hsa047400.47893938
161p53 signaling pathway_Homo sapiens_hsa041150.47861612
162Basal transcription factors_Homo sapiens_hsa030220.47427464
163Nucleotide excision repair_Homo sapiens_hsa034200.46808851
164Ovarian steroidogenesis_Homo sapiens_hsa049130.46374648
165Viral myocarditis_Homo sapiens_hsa054160.45506119
166Melanogenesis_Homo sapiens_hsa049160.44101855
167Insulin resistance_Homo sapiens_hsa049310.43547612
168Legionellosis_Homo sapiens_hsa051340.43226379
169Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42605484
170Insulin secretion_Homo sapiens_hsa049110.40507850
171Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.38597828
172Propanoate metabolism_Homo sapiens_hsa006400.37541879
173Purine metabolism_Homo sapiens_hsa002300.36850306
174Glycerolipid metabolism_Homo sapiens_hsa005610.35588459
175Alzheimers disease_Homo sapiens_hsa050100.34445241
176Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33911361
177Serotonergic synapse_Homo sapiens_hsa047260.33677416
178Drug metabolism - other enzymes_Homo sapiens_hsa009830.30259520
179Salivary secretion_Homo sapiens_hsa049700.27743090
180Glycosaminoglycan degradation_Homo sapiens_hsa005310.26460859
181Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.24572878

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