CTSV

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, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1bundle of His cell to Purkinje myocyte communication (GO:0086069)4.87594700
2proteasome assembly (GO:0043248)4.84491832
3chromatin remodeling at centromere (GO:0031055)4.46993036
4anterior/posterior axis specification, embryo (GO:0008595)4.45518253
5CENP-A containing nucleosome assembly (GO:0034080)4.43095394
6hemidesmosome assembly (GO:0031581)4.08836140
7histone exchange (GO:0043486)4.00260897
8establishment of integrated proviral latency (GO:0075713)3.85017128
9regulation of cardioblast differentiation (GO:0051890)3.84626411
10DNA replication checkpoint (GO:0000076)3.78390471
11desmosome organization (GO:0002934)3.60874337
12establishment of protein localization to mitochondrial membrane (GO:0090151)3.60689119
13cardiac right ventricle morphogenesis (GO:0003215)3.55410850
14female gonad development (GO:0008585)3.53459867
15mitotic metaphase plate congression (GO:0007080)3.52546503
16keratinocyte development (GO:0003334)3.34021293
17chaperone-mediated protein transport (GO:0072321)3.31082029
18positive regulation of cardiac muscle cell proliferation (GO:0060045)3.29646779
19regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.26058889
20negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.25598822
21DNA replication-independent nucleosome organization (GO:0034724)3.25245366
22DNA replication-independent nucleosome assembly (GO:0006336)3.25245366
23regulation of mesoderm development (GO:2000380)3.19827291
24branching involved in labyrinthine layer morphogenesis (GO:0060670)3.13540558
25positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.12274273
26anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.12253237
27transcription elongation from RNA polymerase III promoter (GO:0006385)3.07738266
28termination of RNA polymerase III transcription (GO:0006386)3.07738266
29mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.06760312
30protein localization to kinetochore (GO:0034501)3.06342718
31metaphase plate congression (GO:0051310)3.03068201
32regulation of gene silencing by RNA (GO:0060966)2.98981549
33regulation of posttranscriptional gene silencing (GO:0060147)2.98981549
34regulation of gene silencing by miRNA (GO:0060964)2.98981549
35rRNA modification (GO:0000154)2.98073977
36regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.97346882
37regulation of mitotic spindle checkpoint (GO:1903504)2.97346882
38ribosome assembly (GO:0042255)2.95836232
39negative regulation of DNA-dependent DNA replication (GO:2000104)2.94252547
40nodal signaling pathway (GO:0038092)2.93076402
41regulation of helicase activity (GO:0051095)2.91928043
42exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.91568188
43negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.91202469
44negative regulation of ligase activity (GO:0051352)2.91202469
45otic vesicle formation (GO:0030916)2.88813388
46positive regulation of cardiac muscle tissue growth (GO:0055023)2.87852364
47establishment of viral latency (GO:0019043)2.86296603
48intestinal epithelial cell development (GO:0060576)2.83171239
49somatic diversification of immune receptors via somatic mutation (GO:0002566)2.81823308
50somatic hypermutation of immunoglobulin genes (GO:0016446)2.81823308
51regulation of mitochondrial translation (GO:0070129)2.80665796
52nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.79793221
53ventricular cardiac muscle cell development (GO:0055015)2.76269004
54kinetochore organization (GO:0051383)2.75231480
55cell migration involved in gastrulation (GO:0042074)2.75062154
56DNA double-strand break processing (GO:0000729)2.74967235
57regulation of cellular amino acid metabolic process (GO:0006521)2.74908752
58gap junction assembly (GO:0016264)2.74613727
59regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.73674694
60regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.73057320
61DNA strand elongation involved in DNA replication (GO:0006271)2.72510363
62positive regulation of SMAD protein import into nucleus (GO:0060391)2.72164029
63negative regulation of activin receptor signaling pathway (GO:0032926)2.71317775
64kinetochore assembly (GO:0051382)2.70570412
65non-recombinational repair (GO:0000726)2.70528636
66double-strand break repair via nonhomologous end joining (GO:0006303)2.70528636
67telomere maintenance via semi-conservative replication (GO:0032201)2.70517404
68DNA damage response, detection of DNA damage (GO:0042769)2.69950561
69ribosomal small subunit assembly (GO:0000028)2.68469084
70L-serine metabolic process (GO:0006563)2.68007066
71spliceosomal snRNP assembly (GO:0000387)2.66589454
72histone mRNA metabolic process (GO:0008334)2.65526214
73negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.65523739
74regulation of nuclear cell cycle DNA replication (GO:0033262)2.65288497
75embryonic axis specification (GO:0000578)2.64582527
76positive regulation of heart growth (GO:0060421)2.64434972
77formation of translation preinitiation complex (GO:0001731)2.64162896
78regulation of cardiac muscle cell proliferation (GO:0060043)2.63392643
79positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.63372663
80cullin deneddylation (GO:0010388)2.62638178
81hair cycle (GO:0042633)2.62578729
82molting cycle (GO:0042303)2.62578729
83spindle checkpoint (GO:0031577)2.60960982
84paraxial mesoderm development (GO:0048339)2.60177965
85regulation of transforming growth factor beta2 production (GO:0032909)2.59764178
86notochord development (GO:0030903)2.58852146
87transcription from mitochondrial promoter (GO:0006390)2.58622381
88mitotic spindle checkpoint (GO:0071174)2.58116065
89rRNA methylation (GO:0031167)2.57981108
90signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.57811153
91signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.57811153
92signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.57811153
93regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.56659202
94negative regulation of mitotic sister chromatid separation (GO:2000816)2.56534747
95negative regulation of sister chromatid segregation (GO:0033046)2.56534747
96negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.56534747
97negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.56534747
98negative regulation of mitotic sister chromatid segregation (GO:0033048)2.56534747
99DNA ligation (GO:0006266)2.55892420
100lung-associated mesenchyme development (GO:0060484)2.55108544

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.72763003
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.70739039
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.20347364
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.40106841
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.15717271
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.12574845
7E2F4_17652178_ChIP-ChIP_JURKAT_Human3.03090513
8CREB1_15753290_ChIP-ChIP_HEK293T_Human2.91627062
9KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.85405001
10KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.85405001
11KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.85405001
12AR_21909140_ChIP-Seq_LNCAP_Human2.62347475
13CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.61686960
14TP63_17297297_ChIP-ChIP_HaCaT_Human2.53254523
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.36806623
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.34379894
17NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.33258478
18MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.25866135
19SALL1_21062744_ChIP-ChIP_HESCs_Human2.22626952
20MYC_19030024_ChIP-ChIP_MESCs_Mouse2.17097628
21MYC_19079543_ChIP-ChIP_MESCs_Mouse2.17041008
22ETS1_20019798_ChIP-Seq_JURKAT_Human2.12614852
23NELFA_20434984_ChIP-Seq_ESCs_Mouse2.08252755
24FOXM1_23109430_ChIP-Seq_U2OS_Human2.03585091
25ELK1_19687146_ChIP-ChIP_HELA_Human2.00403456
26HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.93608528
27MYC_18358816_ChIP-ChIP_MESCs_Mouse1.92918847
28SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.92461447
29E2F1_18555785_ChIP-Seq_MESCs_Mouse1.85328776
30NANOG_16153702_ChIP-ChIP_HESCs_Human1.84878267
31KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.82395460
32POU5F1_16153702_ChIP-ChIP_HESCs_Human1.82137738
33TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.75992952
34HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.70666391
35NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.67803177
36POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.59742931
37PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58775337
38EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.55417498
39PADI4_21655091_ChIP-ChIP_MCF-7_Human1.55109929
40FOXP3_21729870_ChIP-Seq_TREG_Human1.54586896
41FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.53103794
42VDR_23849224_ChIP-Seq_CD4+_Human1.51247494
43MYCN_18555785_ChIP-Seq_MESCs_Mouse1.49742517
44DCP1A_22483619_ChIP-Seq_HELA_Human1.46645999
45NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.44973728
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43533622
47THAP11_20581084_ChIP-Seq_MESCs_Mouse1.40801686
48E2F1_21310950_ChIP-Seq_MCF-7_Human1.39446961
49TCF3_18692474_ChIP-Seq_MEFs_Mouse1.38626638
50SOX2_16153702_ChIP-ChIP_HESCs_Human1.38175693
51NANOG_18555785_ChIP-Seq_MESCs_Mouse1.37404282
52MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.36575475
53TTF2_22483619_ChIP-Seq_HELA_Human1.35855357
54POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.34555102
55HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.29982848
56FLI1_27457419_Chip-Seq_LIVER_Mouse1.29567052
57YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.29539143
58ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.28246650
59GABP_19822575_ChIP-Seq_HepG2_Human1.28174157
60EOMES_21245162_ChIP-Seq_HESCs_Human1.23200797
61POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.21896709
62NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.21116812
63FUS_26573619_Chip-Seq_HEK293_Human1.21018086
64MYC_18940864_ChIP-ChIP_HL60_Human1.16840511
65MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.11589448
66TCF3_18692474_ChIP-Seq_MESCs_Mouse1.09764537
67EWS_26573619_Chip-Seq_HEK293_Human1.09495485
68ZFX_18555785_ChIP-Seq_MESCs_Mouse1.08796475
69ZNF274_21170338_ChIP-Seq_K562_Hela1.07757857
70SOX2_18555785_ChIP-Seq_MESCs_Mouse1.07529658
71SOX17_20123909_ChIP-Seq_XEN_Mouse1.07043083
72HOXB4_20404135_ChIP-ChIP_EML_Mouse1.06703289
73ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.05828305
74XRN2_22483619_ChIP-Seq_HELA_Human1.05125277
75SRF_21415370_ChIP-Seq_HL-1_Mouse1.04855667
76GATA1_26923725_Chip-Seq_HPCs_Mouse1.04545139
77NOTCH1_21737748_ChIP-Seq_TLL_Human1.03029919
78SMAD3_21741376_ChIP-Seq_HESCs_Human1.01499415
79CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.00701717
80PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.00595649
81PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00175942
82P300_19829295_ChIP-Seq_ESCs_Human0.99700992
83NANOG_18692474_ChIP-Seq_MEFs_Mouse0.99683098
84CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.99502419
85ELF1_17652178_ChIP-ChIP_JURKAT_Human0.99388920
86HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.96803094
87YY1_21170310_ChIP-Seq_MESCs_Mouse0.93707082
88TP63_19390658_ChIP-ChIP_HaCaT_Human0.90862564
89ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.89123561
90PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.87470809
91ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.87330077
92SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.86365718
93RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.85923339
94ELK1_22589737_ChIP-Seq_MCF10A_Human0.85884140
95SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.84046815
96SOX2_18692474_ChIP-Seq_MEFs_Mouse0.83380794
97NANOG_16518401_ChIP-PET_MESCs_Mouse0.81408123
98RBPJ_22232070_ChIP-Seq_NCS_Mouse0.79004908
99HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.78650298
100ESR1_15608294_ChIP-ChIP_MCF-7_Human0.77264412

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003941_abnormal_skin_development4.33043447
2MP0000579_abnormal_nail_morphology3.85819318
3MP0003890_abnormal_embryonic-extraembry3.50429024
4MP0003693_abnormal_embryo_hatching3.02632779
5MP0004957_abnormal_blastocyst_morpholog2.86021164
6MP0004264_abnormal_extraembryonic_tissu2.82459155
7MP0010030_abnormal_orbit_morphology2.64871589
8MP0006292_abnormal_olfactory_placode2.45638527
9MP0000537_abnormal_urethra_morphology2.40705608
10MP0002254_reproductive_system_inflammat2.29660039
11MP0008877_abnormal_DNA_methylation2.19071485
12MP0003119_abnormal_digestive_system2.16492765
13MP0003567_abnormal_fetal_cardiomyocyte2.10457665
14MP0008932_abnormal_embryonic_tissue2.06325749
15MP0008004_abnormal_stomach_pH2.06300456
16MP0010094_abnormal_chromosome_stability2.06036542
17MP0002796_impaired_skin_barrier2.03796077
18MP0000647_abnormal_sebaceous_gland1.95773728
19MP0005377_hearing/vestibular/ear_phenot1.87987461
20MP0003878_abnormal_ear_physiology1.87987461
21MP0001293_anophthalmia1.87569987
22MP0008058_abnormal_DNA_repair1.85810656
23MP0000383_abnormal_hair_follicle1.85054561
24MP0003136_yellow_coat_color1.85033065
25MP0003111_abnormal_nucleus_morphology1.81257266
26MP0003123_paternal_imprinting1.81051168
27MP0003718_maternal_effect1.78805425
28MP0002098_abnormal_vibrissa_morphology1.75766747
29MP0003315_abnormal_perineum_morphology1.66094166
30MP0009672_abnormal_birth_weight1.59660689
31MP0003077_abnormal_cell_cycle1.58058303
32MP0004133_heterotaxia1.57038625
33MP0010678_abnormal_skin_adnexa1.55893792
34MP0003937_abnormal_limbs/digits/tail_de1.52572552
35MP0002233_abnormal_nose_morphology1.48873663
36MP0000762_abnormal_tongue_morphology1.46613175
37MP0005367_renal/urinary_system_phenotyp1.45707716
38MP0000516_abnormal_urinary_system1.45707716
39MP0005499_abnormal_olfactory_system1.43450806
40MP0005394_taste/olfaction_phenotype1.43450806
41MP0008789_abnormal_olfactory_epithelium1.43357169
42MP0000467_abnormal_esophagus_morphology1.40624137
43MP0000566_synostosis1.40125515
44MP0002084_abnormal_developmental_patter1.37320918
45MP0001730_embryonic_growth_arrest1.35437141
46MP0002697_abnormal_eye_size1.34492715
47MP0005380_embryogenesis_phenotype1.34063469
48MP0001672_abnormal_embryogenesis/_devel1.34063469
49MP0003786_premature_aging1.32760370
50MP0004272_abnormal_basement_membrane1.32553082
51MP0002938_white_spotting1.32098044
52MP0001286_abnormal_eye_development1.31122267
53MP0008995_early_reproductive_senescence1.26151995
54MP0002102_abnormal_ear_morphology1.21105543
55MP0005501_abnormal_skin_physiology1.15613443
56MP0003984_embryonic_growth_retardation1.14870638
57MP0002085_abnormal_embryonic_tissue1.14774116
58MP0001697_abnormal_embryo_size1.14344053
59MP0000428_abnormal_craniofacial_morphol1.13410893
60MP0003121_genomic_imprinting1.13405816
61MP0002088_abnormal_embryonic_growth/wei1.12649296
62MP0003936_abnormal_reproductive_system1.09095562
63MP0000377_abnormal_hair_follicle1.08621122
64MP0002736_abnormal_nociception_after1.07494773
65MP0002111_abnormal_tail_morphology1.05982612
66MP0000427_abnormal_hair_cycle1.04877245
67MP0004019_abnormal_vitamin_homeostasis1.04535190
68MP0003186_abnormal_redox_activity1.04035819
69MP0001216_abnormal_epidermal_layer1.00328072
70MP0008057_abnormal_DNA_replication1.00267578
71MP0009703_decreased_birth_body0.99595205
72MP0004381_abnormal_hair_follicle0.96245339
73MP0010234_abnormal_vibrissa_follicle0.94642379
74MP0000350_abnormal_cell_proliferation0.93672062
75MP0002234_abnormal_pharynx_morphology0.93228190
76MP0005275_abnormal_skin_tensile0.91999290
77MP0009053_abnormal_anal_canal0.90098965
78MP0003755_abnormal_palate_morphology0.89586443
79MP0001849_ear_inflammation0.88853387
80MP0003938_abnormal_ear_development0.88792231
81MP0001188_hyperpigmentation0.87570892
82MP0002210_abnormal_sex_determination0.87314979
83MP0002086_abnormal_extraembryonic_tissu0.85540461
84MP0010771_integument_phenotype0.85149482
85MP0003566_abnormal_cell_adhesion0.85132269
86MP0002080_prenatal_lethality0.83319091
87MP0005075_abnormal_melanosome_morpholog0.82799841
88MP0001145_abnormal_male_reproductive0.82091388
89MP0004197_abnormal_fetal_growth/weight/0.81508239
90MP0005257_abnormal_intraocular_pressure0.79594702
91MP0009697_abnormal_copulation0.78816813
92MP0002160_abnormal_reproductive_system0.77547889
93MP0003935_abnormal_craniofacial_develop0.77370925
94MP0001485_abnormal_pinna_reflex0.76785543
95MP0003385_abnormal_body_wall0.76586630
96MP0000372_irregular_coat_pigmentation0.76347692
97MP0006035_abnormal_mitochondrial_morpho0.75878323
98MP0000653_abnormal_sex_gland0.73999424
99MP0001177_atelectasis0.73258706
100MP0009379_abnormal_foot_pigmentation0.72947563

Predicted human phenotypes

RankGene SetZ-score
1Fragile nails (HP:0001808)4.36251005
2Onycholysis (HP:0001806)3.67373501
3Right ventricular cardiomyopathy (HP:0011663)3.56666727
4Esophageal atresia (HP:0002032)3.42723132
5Woolly hair (HP:0002224)3.00203522
6Pili torti (HP:0003777)2.98353734
7Plantar hyperkeratosis (HP:0007556)2.95982091
8Septo-optic dysplasia (HP:0100842)2.93719061
9Absent eyebrow (HP:0002223)2.93576048
10Milia (HP:0001056)2.92304239
11Abnormality of the labia minora (HP:0012880)2.83666143
12Stenosis of the external auditory canal (HP:0000402)2.82871439
13Abnormal lung lobation (HP:0002101)2.78463192
14Sparse eyelashes (HP:0000653)2.76158738
15Absent radius (HP:0003974)2.69731779
16Labial hypoplasia (HP:0000066)2.57884362
17Hypoplastic female external genitalia (HP:0012815)2.56220233
18Bifid tongue (HP:0010297)2.55863379
19Aplasia involving forearm bones (HP:0009822)2.55053085
20Absent forearm bone (HP:0003953)2.55053085
21Absent eyelashes (HP:0000561)2.53157145
22Gonadal dysgenesis (HP:0000133)2.49184064
23Intestinal atresia (HP:0011100)2.48544410
24Colon cancer (HP:0003003)2.44596106
25Anophthalmia (HP:0000528)2.42695062
26Abnormality of nail color (HP:0100643)2.40218751
27Horseshoe kidney (HP:0000085)2.39806390
28Double outlet right ventricle (HP:0001719)2.38846089
29Congenital malformation of the right heart (HP:0011723)2.38846089
30Gastrointestinal atresia (HP:0002589)2.34551807
31Fused cervical vertebrae (HP:0002949)2.33494339
32Absent hair (HP:0002298)2.32045082
33Carpal bone hypoplasia (HP:0001498)2.30499088
34Abnormality of alanine metabolism (HP:0010916)2.27217013
35Hyperalaninemia (HP:0003348)2.27217013
36Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.27217013
37Myelomeningocele (HP:0002475)2.22122230
38Amelogenesis imperfecta (HP:0000705)2.21952921
39Progressive inability to walk (HP:0002505)2.19839324
40Palmar hyperkeratosis (HP:0010765)2.18187024
41Oligodactyly (hands) (HP:0001180)2.17616697
42Bilateral microphthalmos (HP:0007633)2.16240887
43Absent septum pellucidum (HP:0001331)2.13218842
44Congenital ichthyosiform erythroderma (HP:0007431)2.12815314
45Palmoplantar hyperkeratosis (HP:0000972)2.11683535
46Abnormality of the septum pellucidum (HP:0007375)2.10847074
47Abnormality of the lacrimal duct (HP:0011481)2.09226101
48Anal stenosis (HP:0002025)2.09062748
49Ependymoma (HP:0002888)2.07818934
50Abnormal connection of the cardiac segments (HP:0011545)2.06826534
51Abnormal ventriculo-arterial connection (HP:0011563)2.06826534
52Transposition of the great arteries (HP:0001669)2.06826534
53Chromsome breakage (HP:0040012)2.06624094
54Chromosomal breakage induced by crosslinking agents (HP:0003221)2.06383381
55Abnormal hair laboratory examination (HP:0003328)2.06081725
56Multiple enchondromatosis (HP:0005701)2.05736776
57Abnormality of the preputium (HP:0100587)2.04895673
58Microvesicular hepatic steatosis (HP:0001414)2.03979896
59Oral leukoplakia (HP:0002745)2.02305833
60Birth length less than 3rd percentile (HP:0003561)2.01658582
61Abnormal pancreas size (HP:0012094)1.99938058
62Hypoplastic labia majora (HP:0000059)1.98951524
63Meckel diverticulum (HP:0002245)1.98853241
64Aqueductal stenosis (HP:0002410)1.98206952
65Selective tooth agenesis (HP:0001592)1.97275425
66Choanal stenosis (HP:0000452)1.95471081
67Cupped ear (HP:0000378)1.94203161
68Preaxial foot polydactyly (HP:0001841)1.90986027
69Abnormality of the duodenum (HP:0002246)1.90057814
70Aplasia/hypoplasia of the uterus (HP:0008684)1.86652367
71Acute necrotizing encephalopathy (HP:0006965)1.85437754
72Abnormality of the labia (HP:0000058)1.84986426
73Triphalangeal thumb (HP:0001199)1.84888399
74Hypoplastic left heart (HP:0004383)1.84834435
75Abnormality of the ileum (HP:0001549)1.84539514
76Bicornuate uterus (HP:0000813)1.83586636
77Hypoplasia of the uterus (HP:0000013)1.82971669
78Abnormality of the nasolacrimal system (HP:0000614)1.81279423
79Periauricular skin pits (HP:0100277)1.81251611
80Preauricular pit (HP:0004467)1.81251611
81Acute encephalopathy (HP:0006846)1.81229079
82Ovarian neoplasm (HP:0100615)1.81067759
83Abnormality of the parathyroid morphology (HP:0011766)1.79535734
84Hyperglycinemia (HP:0002154)1.78931072
85Dry hair (HP:0011359)1.78169410
86Renal agenesis (HP:0000104)1.78012664
87Short hallux (HP:0010109)1.77035844
88Abnormality of methionine metabolism (HP:0010901)1.75517290
89Aplasia cutis congenita (HP:0001057)1.74906922
90Abnormality of the labia majora (HP:0012881)1.73747762
91Increased CSF lactate (HP:0002490)1.73531372
92Embryonal renal neoplasm (HP:0011794)1.72750572
93Nephroblastoma (Wilms tumor) (HP:0002667)1.72403259
94Abnormality of serum amino acid levels (HP:0003112)1.72155391
95Renal hypoplasia (HP:0000089)1.71997334
96Hemivertebrae (HP:0002937)1.71932661
97Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.71678649
98Amniotic constriction ring (HP:0009775)1.70700960
99Abnormality of placental membranes (HP:0011409)1.70700960
100Cleft eyelid (HP:0000625)1.70371031

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK4.96687449
2PDK23.64155190
3MST43.22308211
4TNIK2.90115190
5ERBB42.79939639
6PLK42.68074333
7STK162.67269786
8BUB12.66811994
9SRPK12.56595476
10TTK2.33838638
11TRIM282.26749767
12CDC72.18307962
13VRK22.16617118
14ACVR1B2.09667026
15ZAK2.08180257
16PLK31.90269025
17TSSK61.86801636
18BMPR1B1.82250675
19STK391.82229289
20OXSR11.81075908
21MKNK11.79206750
22MKNK21.76973589
23WEE11.76531236
24STK38L1.72699667
25LATS11.68689307
26NME11.68210839
27EIF2AK31.66138915
28NEK11.53262073
29WNK31.52033420
30LATS21.51433261
31BRSK21.49204884
32PLK11.43649781
33NUAK11.36172026
34TGFBR11.34402764
35CDK191.15501906
36STK31.10564942
37PNCK0.99455780
38FGFR20.98465111
39NLK0.94067224
40WNK40.91693318
41EPHA20.91417580
42FGFR10.91087448
43EIF2AK10.90234274
44MAP3K120.89541987
45NEK20.89303070
46VRK10.86725244
47BRD40.84804543
48STK40.84736117
49PLK20.84541377
50TAF10.80778731
51GRK10.80510824
52PAK40.79657100
53NME20.75735604
54AURKB0.75441921
55CHEK20.72880745
56ATR0.66961318
57BRSK10.64627263
58STK240.62953280
59RPS6KA40.62745040
60FLT30.62669980
61PASK0.58083712
62PRKCI0.57890818
63ARAF0.57783556
64OBSCN0.57536072
65MAP3K90.57194877
66CASK0.56112766
67EIF2AK20.55207204
68BCR0.54778554
69STK100.52949663
70CHEK10.52679839
71PRKCE0.52352781
72MET0.51427705
73CDK70.51072303
74RPS6KB20.50583090
75ATM0.48566839
76CSNK2A10.48296056
77CSNK1G10.44323863
78BRAF0.41173722
79MAP3K80.40856741
80MUSK0.39027876
81CSNK2A20.37510195
82CSNK1E0.36496576
83FGR0.35405635
84FER0.35195013
85AURKA0.35178006
86MAP4K20.34325398
87MST1R0.33999890
88MELK0.33903806
89INSRR0.33852690
90NEK60.33620025
91ALK0.32514704
92PRKCG0.31956947
93BMX0.29432336
94CDK40.28598558
95DAPK10.28597011
96MATK0.26877321
97CSNK1A10.26644128
98CDK10.24946197
99DYRK30.24389040
100SIK30.23293569

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.15105196
2Mismatch repair_Homo sapiens_hsa034303.10310764
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.90194897
4DNA replication_Homo sapiens_hsa030302.72819692
5RNA polymerase_Homo sapiens_hsa030202.59478877
6Ribosome_Homo sapiens_hsa030102.43950618
7Non-homologous end-joining_Homo sapiens_hsa034502.37055417
8Homologous recombination_Homo sapiens_hsa034402.33624663
9Protein export_Homo sapiens_hsa030602.31948121
10RNA transport_Homo sapiens_hsa030132.15477360
11Oxidative phosphorylation_Homo sapiens_hsa001902.01602783
12Basal transcription factors_Homo sapiens_hsa030222.01274087
13Steroid biosynthesis_Homo sapiens_hsa001001.92364994
14Fatty acid elongation_Homo sapiens_hsa000621.89421833
15Spliceosome_Homo sapiens_hsa030401.87176642
16Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.86186077
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.83999309
18Parkinsons disease_Homo sapiens_hsa050121.73779628
19Base excision repair_Homo sapiens_hsa034101.73401236
20RNA degradation_Homo sapiens_hsa030181.72255693
21Propanoate metabolism_Homo sapiens_hsa006401.64851431
22Nucleotide excision repair_Homo sapiens_hsa034201.64195144
23Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.63898950
24Cell cycle_Homo sapiens_hsa041101.59421961
25Cysteine and methionine metabolism_Homo sapiens_hsa002701.58993057
26Fanconi anemia pathway_Homo sapiens_hsa034601.56335498
272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.55761516
28One carbon pool by folate_Homo sapiens_hsa006701.53680702
29Pyruvate metabolism_Homo sapiens_hsa006201.53365587
30Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.45312214
31Huntingtons disease_Homo sapiens_hsa050161.43724674
32Basal cell carcinoma_Homo sapiens_hsa052171.42194303
33Selenocompound metabolism_Homo sapiens_hsa004501.40339663
34Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.39547259
35Pyrimidine metabolism_Homo sapiens_hsa002401.34293495
36Vitamin digestion and absorption_Homo sapiens_hsa049771.33423360
37TGF-beta signaling pathway_Homo sapiens_hsa043501.24584613
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.22017041
39mRNA surveillance pathway_Homo sapiens_hsa030151.18572066
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.15691235
41p53 signaling pathway_Homo sapiens_hsa041151.14589612
42Folate biosynthesis_Homo sapiens_hsa007901.13754863
43Glutathione metabolism_Homo sapiens_hsa004801.08927497
44Hippo signaling pathway_Homo sapiens_hsa043901.06301694
45Hedgehog signaling pathway_Homo sapiens_hsa043401.06112861
46Alzheimers disease_Homo sapiens_hsa050100.99488517
47Purine metabolism_Homo sapiens_hsa002300.95442513
48Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.92957636
49Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.90625491
50Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.88815514
51Carbon metabolism_Homo sapiens_hsa012000.87940215
52Biosynthesis of amino acids_Homo sapiens_hsa012300.86477494
53Oocyte meiosis_Homo sapiens_hsa041140.83301505
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.83078138
55Phototransduction_Homo sapiens_hsa047440.82956412
56Wnt signaling pathway_Homo sapiens_hsa043100.81430883
57Sulfur metabolism_Homo sapiens_hsa009200.77979894
58beta-Alanine metabolism_Homo sapiens_hsa004100.76395949
59Adherens junction_Homo sapiens_hsa045200.76082289
60Tight junction_Homo sapiens_hsa045300.73302863
61Collecting duct acid secretion_Homo sapiens_hsa049660.72755906
62Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.72089978
63Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.71936631
64ECM-receptor interaction_Homo sapiens_hsa045120.70786169
65Metabolic pathways_Homo sapiens_hsa011000.70020601
66Sulfur relay system_Homo sapiens_hsa041220.69578697
67Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.69175340
68Arginine and proline metabolism_Homo sapiens_hsa003300.66289775
69Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.63703943
70Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63454256
71Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.62224394
72N-Glycan biosynthesis_Homo sapiens_hsa005100.59936502
73Retinol metabolism_Homo sapiens_hsa008300.59069071
74Cardiac muscle contraction_Homo sapiens_hsa042600.57039018
75Fatty acid metabolism_Homo sapiens_hsa012120.57004151
76Fatty acid degradation_Homo sapiens_hsa000710.56131641
77Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.54224336
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.53217610
79Ether lipid metabolism_Homo sapiens_hsa005650.53129953
80alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.50867347
81Thyroid cancer_Homo sapiens_hsa052160.47793420
82Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.47136488
83Pentose and glucuronate interconversions_Homo sapiens_hsa000400.46901871
84Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.45951202
85Fat digestion and absorption_Homo sapiens_hsa049750.44187938
86Tryptophan metabolism_Homo sapiens_hsa003800.43898956
87Peroxisome_Homo sapiens_hsa041460.40973634
88Galactose metabolism_Homo sapiens_hsa000520.40105510
89Drug metabolism - other enzymes_Homo sapiens_hsa009830.38163042
90Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.36609276
91Butanoate metabolism_Homo sapiens_hsa006500.31776981
92Small cell lung cancer_Homo sapiens_hsa052220.30024132
93Chemical carcinogenesis_Homo sapiens_hsa052040.29904377
94Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.29799315
95Central carbon metabolism in cancer_Homo sapiens_hsa052300.29612648
96Sphingolipid metabolism_Homo sapiens_hsa006000.28981653
97Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.28493220
98Linoleic acid metabolism_Homo sapiens_hsa005910.27666474
99Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.25232378
100Regulation of autophagy_Homo sapiens_hsa041400.25083188

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