SSX5

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 product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mesenchymal cell differentiation involved in renal system development (GO:2001012)7.05518899
2mesenchymal cell differentiation involved in kidney development (GO:0072161)7.05518899
3behavioral response to nicotine (GO:0035095)6.78542840
4adaptation of signaling pathway (GO:0023058)5.47357690
5sphingosine metabolic process (GO:0006670)5.32530251
6sphingoid metabolic process (GO:0046519)5.18808342
7diol metabolic process (GO:0034311)5.08020569
8rRNA catabolic process (GO:0016075)5.03566540
9regulation of gene silencing by RNA (GO:0060966)4.89401617
10regulation of posttranscriptional gene silencing (GO:0060147)4.89401617
11regulation of gene silencing by miRNA (GO:0060964)4.89401617
12negative regulation of telomere maintenance (GO:0032205)4.65283233
13DNA deamination (GO:0045006)4.04545937
14regulation of mitochondrial translation (GO:0070129)3.89621750
15negative regulation by host of viral transcription (GO:0043922)3.87254807
16synaptic transmission, cholinergic (GO:0007271)3.81340406
17water-soluble vitamin biosynthetic process (GO:0042364)3.79266229
18tachykinin receptor signaling pathway (GO:0007217)3.75514367
19piRNA metabolic process (GO:0034587)3.74743613
20positive regulation of histone deacetylation (GO:0031065)3.72990596
21relaxation of smooth muscle (GO:0044557)3.72946466
22RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.64567267
23detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.58541363
24keratinocyte development (GO:0003334)3.56845879
25fucose catabolic process (GO:0019317)3.44325506
26L-fucose metabolic process (GO:0042354)3.44325506
27L-fucose catabolic process (GO:0042355)3.44325506
28kynurenine metabolic process (GO:0070189)3.43952223
29cornea development in camera-type eye (GO:0061303)3.43794556
30detection of light stimulus involved in sensory perception (GO:0050962)3.42836039
31detection of light stimulus involved in visual perception (GO:0050908)3.42836039
32DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.41902870
33DNA methylation involved in gamete generation (GO:0043046)3.33235957
34establishment of protein localization to mitochondrial membrane (GO:0090151)3.32767098
35protein complex biogenesis (GO:0070271)3.32038784
36mitochondrial respiratory chain complex I assembly (GO:0032981)3.27216653
37NADH dehydrogenase complex assembly (GO:0010257)3.27216653
38mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.27216653
39negative regulation of gene silencing (GO:0060969)3.26437149
40positive regulation of meiosis (GO:0045836)3.25085657
41indolalkylamine metabolic process (GO:0006586)3.24958745
42peptidyl-histidine modification (GO:0018202)3.24680826
43positive regulation of protein deacetylation (GO:0090312)3.18063612
44negative regulation of leukocyte chemotaxis (GO:0002689)3.13548238
45negative regulation of systemic arterial blood pressure (GO:0003085)3.09324895
46DNA damage response, signal transduction resulting in transcription (GO:0042772)3.05796679
47ncRNA catabolic process (GO:0034661)3.04277411
48positive regulation of meiotic cell cycle (GO:0051446)3.01991425
49mitochondrial respiratory chain complex assembly (GO:0033108)3.00013608
50platelet dense granule organization (GO:0060155)2.93277673
51mannosylation (GO:0097502)2.92107195
52mechanoreceptor differentiation (GO:0042490)2.88860223
53cGMP-mediated signaling (GO:0019934)2.87226815
54tryptophan catabolic process (GO:0006569)2.86136049
55indole-containing compound catabolic process (GO:0042436)2.86136049
56indolalkylamine catabolic process (GO:0046218)2.86136049
57regulation of hippo signaling (GO:0035330)2.85961303
58RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.85304161
59tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.85304161
60response to pheromone (GO:0019236)2.81646396
61auditory receptor cell stereocilium organization (GO:0060088)2.81616562
62positive regulation of interleukin-17 production (GO:0032740)2.81526167
63regulation of meiosis I (GO:0060631)2.76339732
64opioid receptor signaling pathway (GO:0038003)2.74999468
65regulation of telomere maintenance (GO:0032204)2.71291387
66regulation of telomere maintenance via telomerase (GO:0032210)2.69044526
67regulation of histone deacetylation (GO:0031063)2.68090697
68regulation of rhodopsin mediated signaling pathway (GO:0022400)2.67583385
69negative regulation of cell cycle arrest (GO:0071157)2.67239852
70photoreceptor cell maintenance (GO:0045494)2.63671456
71neural tube formation (GO:0001841)2.59044516
72L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.58654362
73retinal cone cell development (GO:0046549)2.58294153
74tryptophan metabolic process (GO:0006568)2.56769365
75cellular ketone body metabolic process (GO:0046950)2.56746481
76reflex (GO:0060004)2.56625268
77positive regulation of defense response to virus by host (GO:0002230)2.56061877
78regulation of mesoderm development (GO:2000380)2.55805503
79reciprocal DNA recombination (GO:0035825)2.53836294
80reciprocal meiotic recombination (GO:0007131)2.53836294
81respiratory chain complex IV assembly (GO:0008535)2.53059206
82drug catabolic process (GO:0042737)2.52223093
83rhodopsin mediated signaling pathway (GO:0016056)2.51028933
84negative regulation of telomerase activity (GO:0051974)2.49847188
85mesenchymal cell differentiation (GO:0048762)2.49079631
86cytochrome complex assembly (GO:0017004)2.49059725
87positive regulation by host of viral transcription (GO:0043923)2.48731543
88hair cell differentiation (GO:0035315)2.46767243
89regulation of nuclear cell cycle DNA replication (GO:0033262)2.45167493
90white fat cell differentiation (GO:0050872)2.44259511
91negative regulation of keratinocyte proliferation (GO:0010839)2.44226139
92arginine metabolic process (GO:0006525)2.43709848
93DNA catabolic process, exonucleolytic (GO:0000738)2.43551096
94negative regulation of transcription regulatory region DNA binding (GO:2000678)2.42812191
95negative regulation of reactive oxygen species metabolic process (GO:2000378)2.42568475
96ketone body metabolic process (GO:1902224)2.41598261
97regulation of defense response to virus by host (GO:0050691)2.40844043
98membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.40470474
99axoneme assembly (GO:0035082)2.40219918
100dopamine transport (GO:0015872)2.39683781

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.72455451
2VDR_22108803_ChIP-Seq_LS180_Human3.65208440
3ZNF274_21170338_ChIP-Seq_K562_Hela3.61702370
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.81061401
5EZH2_22144423_ChIP-Seq_EOC_Human2.76242155
6IGF1R_20145208_ChIP-Seq_DFB_Human2.65412432
7GBX2_23144817_ChIP-Seq_PC3_Human2.52272760
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.45140984
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.31302462
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.16336251
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.14201867
12NOTCH1_21737748_ChIP-Seq_TLL_Human2.13674398
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.09042117
14TAF15_26573619_Chip-Seq_HEK293_Human1.99661010
15EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.91374954
16PCGF2_27294783_Chip-Seq_ESCs_Mouse1.90761611
17IRF8_22096565_ChIP-ChIP_GC-B_Human1.89696875
18EWS_26573619_Chip-Seq_HEK293_Human1.86878057
19CTBP1_25329375_ChIP-Seq_LNCAP_Human1.85108976
20EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.78061774
21P300_19829295_ChIP-Seq_ESCs_Human1.74712017
22RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.69917061
23HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.67079988
24POU3F2_20337985_ChIP-ChIP_501MEL_Human1.62841826
25ER_23166858_ChIP-Seq_MCF-7_Human1.62160534
26PCGF2_27294783_Chip-Seq_NPCs_Mouse1.59136526
27UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.54953508
28NANOG_19829295_ChIP-Seq_ESCs_Human1.54360148
29SOX2_19829295_ChIP-Seq_ESCs_Human1.54360148
30BMI1_23680149_ChIP-Seq_NPCS_Mouse1.50569627
31SUZ12_27294783_Chip-Seq_NPCs_Mouse1.49131778
32FOXA1_27270436_Chip-Seq_PROSTATE_Human1.48432512
33FOXA1_25329375_ChIP-Seq_VCAP_Human1.48432512
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.47153085
35SMAD4_21799915_ChIP-Seq_A2780_Human1.44952557
36SALL1_21062744_ChIP-ChIP_HESCs_Human1.42080888
37CBP_20019798_ChIP-Seq_JUKART_Human1.40921183
38IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.40921183
39AR_25329375_ChIP-Seq_VCAP_Human1.40345379
40TP53_22573176_ChIP-Seq_HFKS_Human1.39759242
41NFE2_27457419_Chip-Seq_LIVER_Mouse1.36957336
42IRF1_19129219_ChIP-ChIP_H3396_Human1.36575024
43BCAT_22108803_ChIP-Seq_LS180_Human1.36526433
44CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.35899354
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34995341
46AR_20517297_ChIP-Seq_VCAP_Human1.34558110
47TCF4_22108803_ChIP-Seq_LS180_Human1.34093841
48TCF4_23295773_ChIP-Seq_U87_Human1.33441962
49MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33237131
50AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.32268073
51AR_21572438_ChIP-Seq_LNCaP_Human1.31423935
52EZH2_27294783_Chip-Seq_NPCs_Mouse1.30918347
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.30294754
54GATA3_21878914_ChIP-Seq_MCF-7_Human1.30227546
55NCOR_22424771_ChIP-Seq_293T_Human1.28786492
56EGR1_23403033_ChIP-Seq_LIVER_Mouse1.28734417
57STAT3_23295773_ChIP-Seq_U87_Human1.26835367
58MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.25872268
59KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.25681802
60MYC_19829295_ChIP-Seq_ESCs_Human1.24267262
61GABP_17652178_ChIP-ChIP_JURKAT_Human1.23617892
62* HOXB7_26014856_ChIP-Seq_BT474_Human1.22854939
63NR3C1_21868756_ChIP-Seq_MCF10A_Human1.22221866
64FOXH1_21741376_ChIP-Seq_EPCs_Human1.20954751
65PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.19814641
66KLF5_20875108_ChIP-Seq_MESCs_Mouse1.17966037
67FUS_26573619_Chip-Seq_HEK293_Human1.17909578
68GATA3_26560356_Chip-Seq_TH2_Human1.16930333
69ETV2_25802403_ChIP-Seq_MESCs_Mouse1.16483032
70CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.14040768
71CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.13288786
72FOXA1_21572438_ChIP-Seq_LNCaP_Human1.13147399
73CRX_20693478_ChIP-Seq_RETINA_Mouse1.11977838
74P53_21459846_ChIP-Seq_SAOS-2_Human1.11616128
75CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.10487109
76SMAD4_21741376_ChIP-Seq_EPCs_Human1.10034863
77CDX2_22108803_ChIP-Seq_LS180_Human1.09570467
78RUNX2_22187159_ChIP-Seq_PCA_Human1.08181425
79MYC_18940864_ChIP-ChIP_HL60_Human1.05347703
80SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.04947446
81SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.04445369
82POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.02601398
83TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02601398
84PIAS1_25552417_ChIP-Seq_VCAP_Human1.02030482
85ETV1_20927104_ChIP-Seq_GIST48_Human1.01815380
86PHF8_20622853_ChIP-Seq_HELA_Human1.00749461
87TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.99765583
88MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.99649106
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99085210
90PRDM14_20953172_ChIP-Seq_ESCs_Human0.99057206
91GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.98033271
92SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.97385938
93SMAD3_21741376_ChIP-Seq_HESCs_Human0.97139286
94RBPJ_21746931_ChIP-Seq_IB4_Human0.96579377
95FOXH1_21741376_ChIP-Seq_ESCs_Human0.96334667
96OCT4_20526341_ChIP-Seq_ESCs_Human0.96182414
97OCT4_21477851_ChIP-Seq_ESCs_Mouse0.95488754
98NANOG_20526341_ChIP-Seq_ESCs_Human0.94416557
99EST1_17652178_ChIP-ChIP_JURKAT_Human0.94401538
100SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.93810709

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004043_abnormal_pH_regulation4.23464916
2MP0009697_abnormal_copulation3.68903965
3MP0003195_calcinosis3.58793603
4MP0004885_abnormal_endolymph3.43729759
5MP0002102_abnormal_ear_morphology2.90897333
6MP0002736_abnormal_nociception_after2.73862592
7MP0008877_abnormal_DNA_methylation2.64802484
8MP0000372_irregular_coat_pigmentation2.54582728
9MP0003787_abnormal_imprinting2.52860163
10MP0002837_dystrophic_cardiac_calcinosis2.51617709
11MP0002234_abnormal_pharynx_morphology2.41029093
12MP0001986_abnormal_taste_sensitivity2.37901181
13MP0001968_abnormal_touch/_nociception2.33966329
14MP0000427_abnormal_hair_cycle2.28991304
15MP0005551_abnormal_eye_electrophysiolog2.19668263
16MP0003136_yellow_coat_color2.11356491
17MP0001984_abnormal_olfaction1.99684478
18MP0008872_abnormal_physiological_respon1.99402820
19MP0003878_abnormal_ear_physiology1.96181930
20MP0005377_hearing/vestibular/ear_phenot1.96181930
21MP0002138_abnormal_hepatobiliary_system1.95280193
22MP0008995_early_reproductive_senescence1.90139267
23MP0004084_abnormal_cardiac_muscle1.89667714
24MP0003950_abnormal_plasma_membrane1.80022743
25MP0001485_abnormal_pinna_reflex1.78445155
26MP0003646_muscle_fatigue1.77094065
27MP0001764_abnormal_homeostasis1.75461676
28MP0010386_abnormal_urinary_bladder1.75055695
29MP0004145_abnormal_muscle_electrophysio1.66520559
30MP0005671_abnormal_response_to1.65204107
31MP0001501_abnormal_sleep_pattern1.63234652
32MP0004142_abnormal_muscle_tone1.61897507
33MP0004742_abnormal_vestibular_system1.58714916
34MP0002876_abnormal_thyroid_physiology1.53340982
35MP0003786_premature_aging1.50172297
36MP0008875_abnormal_xenobiotic_pharmacok1.48060894
37MP0005646_abnormal_pituitary_gland1.42219777
38MP0003879_abnormal_hair_cell1.32469551
39MP0005253_abnormal_eye_physiology1.32273952
40MP0009745_abnormal_behavioral_response1.31736856
41MP0006072_abnormal_retinal_apoptosis1.27541145
42MP0002938_white_spotting1.18059125
43MP0002254_reproductive_system_inflammat1.17190784
44MP0002095_abnormal_skin_pigmentation1.15043846
45MP0009046_muscle_twitch1.15030319
46MP0003137_abnormal_impulse_conducting1.12859393
47MP0006276_abnormal_autonomic_nervous1.10709110
48MP0002735_abnormal_chemical_nociception1.10431556
49MP0001919_abnormal_reproductive_system1.09410922
50MP0001873_stomach_inflammation1.08163284
51MP0001661_extended_life_span1.07319096
52MP0001963_abnormal_hearing_physiology1.06408073
53MP0005171_absent_coat_pigmentation1.05059495
54MP0001664_abnormal_digestion1.04636402
55MP0010234_abnormal_vibrissa_follicle1.04635130
56MP0005389_reproductive_system_phenotype1.04028537
57MP0008058_abnormal_DNA_repair1.02466426
58MP0000631_abnormal_neuroendocrine_gland0.98921166
59MP0003806_abnormal_nucleotide_metabolis0.98792001
60MP0005332_abnormal_amino_acid0.97954018
61MP0002098_abnormal_vibrissa_morphology0.97768725
62MP0010678_abnormal_skin_adnexa0.94969837
63MP0003183_abnormal_peptide_metabolism0.94183841
64MP0000049_abnormal_middle_ear0.93526100
65MP0004264_abnormal_extraembryonic_tissu0.91781981
66MP0002272_abnormal_nervous_system0.91718622
67MP0002277_abnormal_respiratory_mucosa0.91487720
68MP0005075_abnormal_melanosome_morpholog0.90979210
69MP0004133_heterotaxia0.90105096
70MP0001486_abnormal_startle_reflex0.89642728
71MP0004036_abnormal_muscle_relaxation0.85689285
72MP0009764_decreased_sensitivity_to0.85656345
73MP0004215_abnormal_myocardial_fiber0.85607492
74MP0002148_abnormal_hypersensitivity_rea0.82941548
75MP0000383_abnormal_hair_follicle0.82316516
76MP0005670_abnormal_white_adipose0.82245171
77MP0000230_abnormal_systemic_arterial0.81223382
78MP0010329_abnormal_lipoprotein_level0.80845646
79MP0001324_abnormal_eye_pigmentation0.79054669
80MP0000685_abnormal_immune_system0.78994858
81MP0004147_increased_porphyrin_level0.78403975
82MP0000026_abnormal_inner_ear0.77732033
83MP0005275_abnormal_skin_tensile0.74818662
84MP0002733_abnormal_thermal_nociception0.74588927
85MP0003718_maternal_effect0.74503963
86MP0005410_abnormal_fertilization0.74411420
87MP0002572_abnormal_emotion/affect_behav0.73467979
88MP0003724_increased_susceptibility_to0.72022607
89MP0001970_abnormal_pain_threshold0.70964339
90MP0002282_abnormal_trachea_morphology0.68079001
91MP0002064_seizures0.67664645
92MP0005085_abnormal_gallbladder_physiolo0.67171563
93MP0003943_abnormal_hepatobiliary_system0.66867899
94MP0003638_abnormal_response/metabolism_0.66526729
95MP0004924_abnormal_behavior0.65291400
96MP0005386_behavior/neurological_phenoty0.65291400
97MP0001119_abnormal_female_reproductive0.64962543
98MP0003880_abnormal_central_pattern0.64686532
99MP0002229_neurodegeneration0.64597160
100MP0000579_abnormal_nail_morphology0.64484128

Predicted human phenotypes

RankGene SetZ-score
1Nonprogressive disorder (HP:0003680)9.54424534
2Aplasia/Hypoplasia of the fovea (HP:0008060)4.72428370
3Hypoplasia of the fovea (HP:0007750)4.72428370
4Fibular aplasia (HP:0002990)4.32149857
5Unilateral renal agenesis (HP:0000122)4.09443257
6Fibular hypoplasia (HP:0003038)3.94805178
7Bilateral microphthalmos (HP:0007633)3.94061736
8Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.93764602
9Abnormality of the fovea (HP:0000493)3.87902200
10Abnormality of the renal cortex (HP:0011035)3.54327476
11Pancreatic cysts (HP:0001737)3.51870892
12Type II lissencephaly (HP:0007260)3.50223885
13Erythroderma (HP:0001019)3.48618176
14Asymmetry of the thorax (HP:0001555)3.43526571
15Brittle hair (HP:0002299)3.42931307
16Corneal dystrophy (HP:0001131)3.28622856
17Partial agenesis of the corpus callosum (HP:0001338)3.25423284
18Chronic hepatic failure (HP:0100626)3.14949484
19Renal cortical cysts (HP:0000803)2.93208364
20Aplasia/Hypoplasia of the macula (HP:0008059)2.87399118
21True hermaphroditism (HP:0010459)2.84558077
22Decreased circulating renin level (HP:0003351)2.81959000
23Aplasia/Hypoplasia of the fibula (HP:0006492)2.80535296
24Aplasia/Hypoplasia affecting the retina (HP:0008061)2.66078192
25Broad ribs (HP:0000885)2.65430252
26Congenital stationary night blindness (HP:0007642)2.64121908
27Pancreatic fibrosis (HP:0100732)2.62781685
28Abnormality of midbrain morphology (HP:0002418)2.61853230
29Molar tooth sign on MRI (HP:0002419)2.61853230
30Nephronophthisis (HP:0000090)2.59353282
31Cerebellar dysplasia (HP:0007033)2.58212064
32Attenuation of retinal blood vessels (HP:0007843)2.57273382
33Abnormality of the lumbar spine (HP:0100712)2.52729972
34Natal tooth (HP:0000695)2.50865838
35Fused cervical vertebrae (HP:0002949)2.50250592
36Fragile nails (HP:0001808)2.46553361
37Alopecia of scalp (HP:0002293)2.44833243
38Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.40923297
39Congenital ichthyosiform erythroderma (HP:0007431)2.39623054
40Abolished electroretinogram (ERG) (HP:0000550)2.37306578
41Abnormality of the renal medulla (HP:0100957)2.36529607
42Concave nail (HP:0001598)2.33025747
43Delayed closure of the anterior fontanelle (HP:0001476)2.24194680
44Decreased electroretinogram (ERG) amplitude (HP:0000654)2.22602112
45Congenital, generalized hypertrichosis (HP:0004540)2.20885480
46Furrowed tongue (HP:0000221)2.18206647
47Focal motor seizures (HP:0011153)2.17042936
48Lissencephaly (HP:0001339)2.14863400
49Tubular atrophy (HP:0000092)2.14283357
50Mixed hearing impairment (HP:0000410)2.10548598
51Nephrogenic diabetes insipidus (HP:0009806)2.09968727
52Oral leukoplakia (HP:0002745)2.09383816
53Metabolic alkalosis (HP:0200114)2.07657312
54Decreased central vision (HP:0007663)2.05825049
55Cystic liver disease (HP:0006706)2.04693875
56Medial flaring of the eyebrow (HP:0010747)2.02432017
57Tracheomalacia (HP:0002779)2.02317781
58IgG deficiency (HP:0004315)2.02162564
59Abnormal rod and cone electroretinograms (HP:0008323)2.00566323
60Thoracic kyphosis (HP:0002942)1.99202919
61Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.97979983
62Abnormal drinking behavior (HP:0030082)1.97763642
63Polydipsia (HP:0001959)1.97763642
64Abnormality of liposaccharide metabolism (HP:0010968)1.96435840
65Abnormality of glycosphingolipid metabolism (HP:0004343)1.96435840
66Abnormality of glycolipid metabolism (HP:0010969)1.96435840
67Absent rod-and cone-mediated responses on ERG (HP:0007688)1.95819855
68Pendular nystagmus (HP:0012043)1.94749466
69Recurrent corneal erosions (HP:0000495)1.92822682
70Conical tooth (HP:0000698)1.87629112
71Bony spicule pigmentary retinopathy (HP:0007737)1.87244456
72Acute necrotizing encephalopathy (HP:0006965)1.86844838
73Stomatitis (HP:0010280)1.85484820
74Flat capital femoral epiphysis (HP:0003370)1.83437224
75Oligohydramnios (HP:0001562)1.76897715
76Stomach cancer (HP:0012126)1.76825403
77Enlarged kidneys (HP:0000105)1.76759529
78Amelogenesis imperfecta (HP:0000705)1.75933934
79Retinal dysplasia (HP:0007973)1.75924205
80Abnormal mitochondria in muscle tissue (HP:0008316)1.75615715
81Parakeratosis (HP:0001036)1.73538707
82Abnormality of renin-angiotensin system (HP:0000847)1.72980192
83Acute encephalopathy (HP:0006846)1.72775782
84Thickened calvaria (HP:0002684)1.72709332
85Opacification of the corneal stroma (HP:0007759)1.72397392
863-Methylglutaconic aciduria (HP:0003535)1.71987824
87Abnormality of DNA repair (HP:0003254)1.69082737
88Mitochondrial inheritance (HP:0001427)1.68930210
89Type I transferrin isoform profile (HP:0003642)1.68016035
90Increased CSF lactate (HP:0002490)1.67758581
91Prostate neoplasm (HP:0100787)1.66445189
92Abnormality of the wing of the ilium (HP:0011867)1.66062307
93Hypoplasia of the pons (HP:0012110)1.66048975
94Woolly hair (HP:0002224)1.65368976
95Congenital primary aphakia (HP:0007707)1.63516645
96Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.63342647
97Rough bone trabeculation (HP:0100670)1.63197434
98Cerebral palsy (HP:0100021)1.63104996
99Disproportionate short-trunk short stature (HP:0003521)1.62785785
100Anterior segment dysgenesis (HP:0007700)1.62591617

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.14694453
2NUAK13.72542242
3TLK13.50956459
4PINK13.45535818
5ADRBK22.68461107
6ZAK2.54339431
7TAOK32.49142536
8BMPR1B2.43136837
9VRK22.40107075
10WNK32.15450455
11LATS12.13911802
12TRIM282.07008267
13GRK12.02885652
14PRKG22.01296909
15GRK71.94347678
16MST41.94262479
17TAF11.93591141
18STK38L1.71270945
19LIMK11.69540873
20WNK11.58197723
21MELK1.51443772
22GRK51.48347783
23HIPK21.41392707
24INSRR1.25563240
25BCR1.22292358
26MAPKAPK31.21213307
27WNK41.20614135
28ADRBK11.14256243
29EIF2AK21.11626289
30EIF2AK31.09639706
31BCKDK1.08472163
32TXK1.06549929
33MAPK131.05216217
34DAPK21.04399024
35CDK81.03962020
36STK161.02717241
37OXSR11.00577680
38GRK60.98046517
39MUSK0.96278100
40PLK40.95627085
41CSNK1G10.93913238
42SIK30.91706921
43SIK20.91326405
44CSNK1G30.89182733
45PKN10.87637650
46NEK20.81022555
47VRK10.79965275
48EPHA40.79805869
49KDR0.77874742
50CSNK1G20.75836374
51CHEK20.75259614
52CSNK1A1L0.74587684
53ERBB30.73940915
54STK30.71733917
55PAK30.70429223
56PRKD20.70231875
57STK110.69761854
58TEC0.69626584
59MAP2K20.68315295
60CDK190.68040388
61MAPKAPK50.67283387
62MAP2K60.66427414
63PRKCE0.65581197
64STK390.65511731
65PHKG20.65073644
66PHKG10.65073644
67PRKCG0.64215955
68ITK0.64119857
69PLK20.61187836
70CDK30.61045771
71CSNK1A10.60652869
72NLK0.59453682
73KIT0.58843705
74DAPK10.57572626
75SYK0.57348632
76BMPR20.57315870
77TGFBR20.57252113
78TIE10.57246733
79MATK0.56939292
80MAP3K40.56121568
81PIK3CG0.56019713
82PRKAA10.55612876
83PRKAA20.55547399
84STK380.53474311
85IGF1R0.52190535
86IKBKB0.50867273
87PDK20.50763133
88MARK10.50406886
89MAP4K20.50310409
90FLT30.46417875
91STK100.45218594
92CSNK1D0.44982212
93MAP3K120.43547021
94PLK30.43443279
95TGFBR10.40252181
96ACVR1B0.39935914
97MARK30.36858933
98PRKG10.36844596
99PRKCA0.35720133
100PIK3CA0.35545969

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047443.31697390
2Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006013.27498132
3Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.67425435
4Cyanoamino acid metabolism_Homo sapiens_hsa004602.50159234
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.44466599
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.44215948
7Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.32185963
8Basal transcription factors_Homo sapiens_hsa030222.27228966
9Nicotine addiction_Homo sapiens_hsa050332.24750211
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.23981821
11Homologous recombination_Homo sapiens_hsa034402.02188508
12Primary immunodeficiency_Homo sapiens_hsa053402.01946621
13Linoleic acid metabolism_Homo sapiens_hsa005912.00638379
14Oxidative phosphorylation_Homo sapiens_hsa001901.97007547
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.91415669
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.88284060
17Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.79923240
18Caffeine metabolism_Homo sapiens_hsa002321.73778457
19Proteasome_Homo sapiens_hsa030501.67591555
20Olfactory transduction_Homo sapiens_hsa047401.61733414
21Nitrogen metabolism_Homo sapiens_hsa009101.55799451
22Retinol metabolism_Homo sapiens_hsa008301.54824177
23Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.53901890
24Butanoate metabolism_Homo sapiens_hsa006501.53094047
25Intestinal immune network for IgA production_Homo sapiens_hsa046721.52220023
26Protein export_Homo sapiens_hsa030601.47105985
27Steroid hormone biosynthesis_Homo sapiens_hsa001401.43111085
28Selenocompound metabolism_Homo sapiens_hsa004501.41592833
29Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.41237336
30Sphingolipid metabolism_Homo sapiens_hsa006001.41041767
31Parkinsons disease_Homo sapiens_hsa050121.40237308
32Morphine addiction_Homo sapiens_hsa050321.35173592
33Tryptophan metabolism_Homo sapiens_hsa003801.29450635
34Chemical carcinogenesis_Homo sapiens_hsa052041.27248793
35Ether lipid metabolism_Homo sapiens_hsa005651.23437769
36Primary bile acid biosynthesis_Homo sapiens_hsa001201.23036409
37RNA polymerase_Homo sapiens_hsa030201.21676470
38Arachidonic acid metabolism_Homo sapiens_hsa005901.17556099
39Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.14652394
40Circadian entrainment_Homo sapiens_hsa047131.14119271
41Fanconi anemia pathway_Homo sapiens_hsa034601.09464459
42Taste transduction_Homo sapiens_hsa047421.09266314
43Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07581587
44Salivary secretion_Homo sapiens_hsa049701.06465443
45GABAergic synapse_Homo sapiens_hsa047271.04751829
46RNA degradation_Homo sapiens_hsa030181.01420190
47ABC transporters_Homo sapiens_hsa020101.00730289
48Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.00349609
49Huntingtons disease_Homo sapiens_hsa050160.99635587
50Serotonergic synapse_Homo sapiens_hsa047260.98057031
51One carbon pool by folate_Homo sapiens_hsa006700.96997005
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.95463481
53Alzheimers disease_Homo sapiens_hsa050100.89111426
54Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.84054619
55Calcium signaling pathway_Homo sapiens_hsa040200.82421759
56Glycerolipid metabolism_Homo sapiens_hsa005610.81182047
57Non-homologous end-joining_Homo sapiens_hsa034500.78754506
58Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.78037291
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.77711124
60Mineral absorption_Homo sapiens_hsa049780.77534129
61Histidine metabolism_Homo sapiens_hsa003400.75454376
62Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.73589732
63Ovarian steroidogenesis_Homo sapiens_hsa049130.72607651
64Cardiac muscle contraction_Homo sapiens_hsa042600.71087831
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.67300648
66Maturity onset diabetes of the young_Homo sapiens_hsa049500.65689171
67Peroxisome_Homo sapiens_hsa041460.65467300
68Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.64682821
69African trypanosomiasis_Homo sapiens_hsa051430.64095090
70Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.63852464
71Metabolic pathways_Homo sapiens_hsa011000.61849968
72Glutamatergic synapse_Homo sapiens_hsa047240.59554100
73Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.59400699
74Fat digestion and absorption_Homo sapiens_hsa049750.57956912
75Arginine and proline metabolism_Homo sapiens_hsa003300.56607604
76Pyrimidine metabolism_Homo sapiens_hsa002400.56269070
77Regulation of autophagy_Homo sapiens_hsa041400.55813994
78Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.54684175
79N-Glycan biosynthesis_Homo sapiens_hsa005100.54360592
80Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.51385009
81Base excision repair_Homo sapiens_hsa034100.48076583
82Collecting duct acid secretion_Homo sapiens_hsa049660.47937129
83Purine metabolism_Homo sapiens_hsa002300.45357496
84Propanoate metabolism_Homo sapiens_hsa006400.44821718
85Asthma_Homo sapiens_hsa053100.42851720
86Fatty acid degradation_Homo sapiens_hsa000710.40846945
87Graft-versus-host disease_Homo sapiens_hsa053320.40058872
88Renin secretion_Homo sapiens_hsa049240.39706898
89Nucleotide excision repair_Homo sapiens_hsa034200.39120382
90beta-Alanine metabolism_Homo sapiens_hsa004100.38810426
91Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36346722
92Allograft rejection_Homo sapiens_hsa053300.35800512
93Gastric acid secretion_Homo sapiens_hsa049710.35349931
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.34588088
95p53 signaling pathway_Homo sapiens_hsa041150.34104313
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33266730
97Sulfur relay system_Homo sapiens_hsa041220.32701837
98Long-term depression_Homo sapiens_hsa047300.31696028
99Drug metabolism - other enzymes_Homo sapiens_hsa009830.30250649
100Rheumatoid arthritis_Homo sapiens_hsa053230.29595689

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