C12orf4

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 is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA double-strand break processing (GO:0000729)7.62936849
2DNA replication checkpoint (GO:0000076)5.18245634
3response to xenobiotic stimulus (GO:0009410)4.64586431
4proteasome assembly (GO:0043248)4.40936045
5regulation of DNA endoreduplication (GO:0032875)4.32831790
6positive regulation of mitotic sister chromatid separation (GO:1901970)4.29383592
7positive regulation of mitotic metaphase/anaphase transition (GO:0045842)4.29383592
8positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)4.29383592
9DNA catabolic process, exonucleolytic (GO:0000738)4.02093337
10response to nitrosative stress (GO:0051409)3.99055583
11postreplication repair (GO:0006301)3.83860082
12centriole replication (GO:0007099)3.67832408
13translesion synthesis (GO:0019985)3.65530029
14mitochondrial DNA replication (GO:0006264)3.65192764
15neural tube formation (GO:0001841)3.58921060
16replication fork processing (GO:0031297)3.49725657
17telomere maintenance via recombination (GO:0000722)3.41129479
18recombinational repair (GO:0000725)3.39437500
19double-strand break repair via homologous recombination (GO:0000724)3.38650847
20negative regulation of transcription regulatory region DNA binding (GO:2000678)3.35509752
21L-fucose catabolic process (GO:0042355)3.34892660
22fucose catabolic process (GO:0019317)3.34892660
23L-fucose metabolic process (GO:0042354)3.34892660
24somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.28236599
25isotype switching (GO:0045190)3.28236599
26somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.28236599
27cysteine metabolic process (GO:0006534)3.27350261
28epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.27164625
29regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.26367750
30regulation of mitotic spindle checkpoint (GO:1903504)3.26367750
31microtubule depolymerization (GO:0007019)3.25833384
32telomere maintenance via semi-conservative replication (GO:0032201)3.21477273
33CENP-A containing nucleosome assembly (GO:0034080)3.20826649
34chromatin remodeling at centromere (GO:0031055)3.17628233
35DNA-dependent DNA replication (GO:0006261)3.16260050
36atrial cardiac muscle cell action potential (GO:0086014)3.08786355
37protein localization to cilium (GO:0061512)3.04496339
38protein K11-linked deubiquitination (GO:0035871)3.04425795
39mitotic recombination (GO:0006312)3.03029065
40negative regulation of T cell differentiation in thymus (GO:0033085)3.01225306
41regulation of nuclear cell cycle DNA replication (GO:0033262)2.97410655
42regulation of centriole replication (GO:0046599)2.95913843
43NADH dehydrogenase complex assembly (GO:0010257)2.95364304
44mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.95364304
45mitochondrial respiratory chain complex I assembly (GO:0032981)2.95364304
46regulation of meiosis I (GO:0060631)2.92407646
47signal peptide processing (GO:0006465)2.90248219
48platelet dense granule organization (GO:0060155)2.86905669
49negative regulation of DNA recombination (GO:0045910)2.86489269
50somatic hypermutation of immunoglobulin genes (GO:0016446)2.84949126
51somatic diversification of immune receptors via somatic mutation (GO:0002566)2.84949126
52epithelial cilium movement (GO:0003351)2.83205658
53viral mRNA export from host cell nucleus (GO:0046784)2.82403948
54microtubule polymerization or depolymerization (GO:0031109)2.81390859
55positive regulation of chromosome segregation (GO:0051984)2.79225563
56protein-cofactor linkage (GO:0018065)2.78080168
57histone exchange (GO:0043486)2.77818881
58somatic recombination of immunoglobulin gene segments (GO:0016447)2.77301893
59protein deneddylation (GO:0000338)2.75822048
60behavioral response to nicotine (GO:0035095)2.75225536
61cullin deneddylation (GO:0010388)2.74517038
62somite development (GO:0061053)2.74251375
63protein complex biogenesis (GO:0070271)2.73236649
64kynurenine metabolic process (GO:0070189)2.71381255
65retinal cone cell development (GO:0046549)2.71356654
66neuron fate determination (GO:0048664)2.70371761
67meiotic chromosome segregation (GO:0045132)2.69568498
68gamma-aminobutyric acid transport (GO:0015812)2.69505691
69synapsis (GO:0007129)2.68497360
70somatic diversification of immunoglobulins (GO:0016445)2.66786767
71organelle disassembly (GO:1903008)2.64846593
72regulation of hippo signaling (GO:0035330)2.64650044
73RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.63886140
74nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.63874925
75ribonucleoprotein complex disassembly (GO:0032988)2.63734812
76cilium morphogenesis (GO:0060271)2.60207445
77intraciliary transport (GO:0042073)2.60048629
78nonmotile primary cilium assembly (GO:0035058)2.59574290
79indolalkylamine metabolic process (GO:0006586)2.59027714
80maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.57349826
81piRNA metabolic process (GO:0034587)2.56647251
82regulation of helicase activity (GO:0051095)2.56277508
83regulation of mitochondrial depolarization (GO:0051900)2.55314849
84prenylation (GO:0097354)2.54746536
85protein prenylation (GO:0018342)2.54746536
86mitochondrial respiratory chain complex assembly (GO:0033108)2.53419708
87tryptophan catabolic process (GO:0006569)2.52245612
88indole-containing compound catabolic process (GO:0042436)2.52245612
89indolalkylamine catabolic process (GO:0046218)2.52245612
90non-recombinational repair (GO:0000726)2.50879420
91double-strand break repair via nonhomologous end joining (GO:0006303)2.50879420
92DNA recombination (GO:0006310)2.50398548
93S-adenosylmethionine metabolic process (GO:0046500)2.50215857
94histone mRNA metabolic process (GO:0008334)2.50113589
95photoreceptor cell development (GO:0042461)2.49774191
96mannosylation (GO:0097502)2.49388305
97negative regulation of DNA-dependent DNA replication (GO:2000104)2.48872322
98exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.47600701
99response to X-ray (GO:0010165)2.46966378
100attachment of spindle microtubules to kinetochore (GO:0008608)2.46169176

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela2.93381673
2VDR_22108803_ChIP-Seq_LS180_Human2.93258421
3POU3F2_20337985_ChIP-ChIP_501MEL_Human2.78048319
4IGF1R_20145208_ChIP-Seq_DFB_Human2.76138571
5SALL1_21062744_ChIP-ChIP_HESCs_Human2.69243302
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.69234924
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.63520185
8TAF15_26573619_Chip-Seq_HEK293_Human2.56060532
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.54840910
10MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.49960409
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.41692607
12EWS_26573619_Chip-Seq_HEK293_Human2.41603515
13FUS_26573619_Chip-Seq_HEK293_Human2.40589903
14GABP_17652178_ChIP-ChIP_JURKAT_Human2.31606866
15CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.31493812
16RBPJ_22232070_ChIP-Seq_NCS_Mouse2.29603857
17ELK1_19687146_ChIP-ChIP_HELA_Human2.28042791
18GBX2_23144817_ChIP-Seq_PC3_Human2.25064972
19* EST1_17652178_ChIP-ChIP_JURKAT_Human2.19615714
20FLI1_27457419_Chip-Seq_LIVER_Mouse2.19195269
21P300_19829295_ChIP-Seq_ESCs_Human2.16674643
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.02395724
23E2F4_17652178_ChIP-ChIP_JURKAT_Human1.99720529
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.90913533
25CTBP1_25329375_ChIP-Seq_LNCAP_Human1.90594830
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.88258772
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86289859
28AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.85653880
29PCGF2_27294783_Chip-Seq_ESCs_Mouse1.77116612
30VDR_23849224_ChIP-Seq_CD4+_Human1.72372267
31E2F7_22180533_ChIP-Seq_HELA_Human1.69339158
32IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.66759494
33CBP_20019798_ChIP-Seq_JUKART_Human1.66759494
34NOTCH1_21737748_ChIP-Seq_TLL_Human1.60543482
35HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.55270562
36UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.54828179
37PADI4_21655091_ChIP-ChIP_MCF-7_Human1.54437279
38SMAD4_21799915_ChIP-Seq_A2780_Human1.50728159
39MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.49994616
40SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.49678949
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49481387
42MYC_18940864_ChIP-ChIP_HL60_Human1.47861533
43ER_23166858_ChIP-Seq_MCF-7_Human1.47053773
44EZH2_27294783_Chip-Seq_NPCs_Mouse1.42304296
45TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41533262
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.41492709
47PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40784196
48SUZ12_27294783_Chip-Seq_NPCs_Mouse1.40661709
49FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.40629410
50STAT3_23295773_ChIP-Seq_U87_Human1.36989084
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.36100292
52MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.36008984
53PIAS1_25552417_ChIP-Seq_VCAP_Human1.35302555
54IRF1_19129219_ChIP-ChIP_H3396_Human1.35033523
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.33526444
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32718802
57NFE2_27457419_Chip-Seq_LIVER_Mouse1.32469052
58EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.32204993
59AR_25329375_ChIP-Seq_VCAP_Human1.29215917
60TCF4_23295773_ChIP-Seq_U87_Human1.28767103
61TP53_22573176_ChIP-Seq_HFKS_Human1.28127926
62KLF5_20875108_ChIP-Seq_MESCs_Mouse1.27551881
63TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.26197546
64SMAD3_21741376_ChIP-Seq_EPCs_Human1.26181201
65EZH2_22144423_ChIP-Seq_EOC_Human1.26103683
66KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.24519726
67NANOG_18555785_Chip-Seq_ESCs_Mouse1.23692500
68NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.23669540
69PCGF2_27294783_Chip-Seq_NPCs_Mouse1.21842231
70CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.20338509
71FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.19548811
72BCAT_22108803_ChIP-Seq_LS180_Human1.19326689
73CRX_20693478_ChIP-Seq_RETINA_Mouse1.18761635
74POU5F1_16153702_ChIP-ChIP_HESCs_Human1.14431134
75TCF4_22108803_ChIP-Seq_LS180_Human1.13917069
76* ETS1_20019798_ChIP-Seq_JURKAT_Human1.12237569
77FOXA1_21572438_ChIP-Seq_LNCaP_Human1.12126582
78FLI1_21867929_ChIP-Seq_TH2_Mouse1.11548954
79RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.10281739
80GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.09261991
81SOX2_19829295_ChIP-Seq_ESCs_Human1.08972962
82NANOG_19829295_ChIP-Seq_ESCs_Human1.08972962
83TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.08420219
84NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08173213
85JUN_21703547_ChIP-Seq_K562_Human1.07900605
86RUNX2_22187159_ChIP-Seq_PCA_Human1.07103198
87EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.06742474
88CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.05369101
89CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.05176128
90PRDM14_20953172_ChIP-Seq_ESCs_Human1.04465436
91JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.04009587
92FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.03841585
93FOXM1_26456572_ChIP-Seq_MCF-7_Human1.02275718
94SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.00530611
95P53_22387025_ChIP-Seq_ESCs_Mouse0.98609757
96CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.97716503
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96959847
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.96959847
99FOXP3_21729870_ChIP-Seq_TREG_Human0.95711085
100TAL1_26923725_Chip-Seq_HPCs_Mouse0.95166936

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication6.12212826
2MP0000569_abnormal_digit_pigmentation4.32253534
3MP0003890_abnormal_embryonic-extraembry3.73347116
4MP0006292_abnormal_olfactory_placode3.02678265
5MP0002234_abnormal_pharynx_morphology2.71013681
6MP0002102_abnormal_ear_morphology2.61005293
7MP0008058_abnormal_DNA_repair2.49959568
8MP0006072_abnormal_retinal_apoptosis2.38279993
9MP0008789_abnormal_olfactory_epithelium2.32180097
10MP0005253_abnormal_eye_physiology2.16567068
11MP0003718_maternal_effect2.11149353
12MP0010094_abnormal_chromosome_stability2.09530002
13MP0008877_abnormal_DNA_methylation2.08629435
14MP0003195_calcinosis2.07477115
15MP0003880_abnormal_central_pattern2.03582947
16MP0010386_abnormal_urinary_bladder1.85867374
17MP0005551_abnormal_eye_electrophysiolog1.80202356
18MP0003950_abnormal_plasma_membrane1.78738370
19MP0004145_abnormal_muscle_electrophysio1.78235131
20MP0004142_abnormal_muscle_tone1.70546406
21MP0003646_muscle_fatigue1.64000097
22MP0005499_abnormal_olfactory_system1.61934041
23MP0005394_taste/olfaction_phenotype1.61934041
24MP0000427_abnormal_hair_cycle1.60444776
25MP0003806_abnormal_nucleotide_metabolis1.57547399
26MP0001529_abnormal_vocalization1.57469734
27MP0001986_abnormal_taste_sensitivity1.50655481
28MP0000631_abnormal_neuroendocrine_gland1.47507076
29MP0002751_abnormal_autonomic_nervous1.45297724
30MP0001984_abnormal_olfaction1.43545523
31MP0005423_abnormal_somatic_nervous1.41012344
32MP0006276_abnormal_autonomic_nervous1.40519999
33MP0004134_abnormal_chest_morphology1.36819556
34MP0009046_muscle_twitch1.36537576
35MP0004215_abnormal_myocardial_fiber1.30519701
36MP0002090_abnormal_vision1.29186883
37MP0002938_white_spotting1.25383219
38MP0002638_abnormal_pupillary_reflex1.23372767
39MP0003077_abnormal_cell_cycle1.20838962
40MP0000015_abnormal_ear_pigmentation1.19607490
41MP0002095_abnormal_skin_pigmentation1.19326653
42MP0005391_vision/eye_phenotype1.18977444
43MP0005171_absent_coat_pigmentation1.17950946
44MP0000372_irregular_coat_pigmentation1.16915935
45MP0003137_abnormal_impulse_conducting1.16591072
46MP0001764_abnormal_homeostasis1.16049934
47MP0000778_abnormal_nervous_system1.14615354
48MP0000750_abnormal_muscle_regeneration1.14602835
49MP0000647_abnormal_sebaceous_gland1.10718175
50MP0002272_abnormal_nervous_system1.09768494
51MP0004957_abnormal_blastocyst_morpholog1.09706549
52MP0005266_abnormal_metabolism1.09635257
53MP0009697_abnormal_copulation1.08573736
54MP0001293_anophthalmia1.06946954
55MP0004924_abnormal_behavior1.04780949
56MP0005386_behavior/neurological_phenoty1.04780949
57MP0002837_dystrophic_cardiac_calcinosis1.04625831
58MP0002138_abnormal_hepatobiliary_system1.01975808
59MP0002229_neurodegeneration1.01292410
60MP0001929_abnormal_gametogenesis0.98943492
61MP0002163_abnormal_gland_morphology0.94488460
62MP0005195_abnormal_posterior_eye0.93889002
63MP0003186_abnormal_redox_activity0.93495740
64MP0002210_abnormal_sex_determination0.93404892
65MP0003221_abnormal_cardiomyocyte_apopto0.92927951
66MP0000516_abnormal_urinary_system0.92727645
67MP0005367_renal/urinary_system_phenotyp0.92727645
68MP0003111_abnormal_nucleus_morphology0.91802218
69MP0009745_abnormal_behavioral_response0.89960539
70MP0005646_abnormal_pituitary_gland0.89918798
71MP0002928_abnormal_bile_duct0.89431325
72MP0001968_abnormal_touch/_nociception0.88737839
73MP0008775_abnormal_heart_ventricle0.87957114
74MP0002184_abnormal_innervation0.87781238
75MP0002067_abnormal_sensory_capabilities0.86232548
76MP0000955_abnormal_spinal_cord0.84626882
77MP0005248_abnormal_Harderian_gland0.82509738
78MP0003633_abnormal_nervous_system0.82475235
79MP0001324_abnormal_eye_pigmentation0.81482398
80MP0005395_other_phenotype0.80499122
81MP0002752_abnormal_somatic_nervous0.79232242
82MP0002736_abnormal_nociception_after0.78742547
83MP0005174_abnormal_tail_pigmentation0.78039822
84MP0001486_abnormal_startle_reflex0.77199426
85MP0002734_abnormal_mechanical_nocicepti0.76638515
86MP0005647_abnormal_sex_gland0.76430851
87MP0006054_spinal_hemorrhage0.75514906
88MP0001119_abnormal_female_reproductive0.74724464
89MP0008932_abnormal_embryonic_tissue0.74151008
90MP0000383_abnormal_hair_follicle0.74094730
91MP0004085_abnormal_heartbeat0.73986768
92MP0000653_abnormal_sex_gland0.73905620
93MP0005645_abnormal_hypothalamus_physiol0.73461656
94MP0003693_abnormal_embryo_hatching0.70818617
95MP0002233_abnormal_nose_morphology0.70605911
96MP0004147_increased_porphyrin_level0.70578237
97MP0003937_abnormal_limbs/digits/tail_de0.70065604
98MP0003698_abnormal_male_reproductive0.69710115
99MP0004742_abnormal_vestibular_system0.68735689
100MP0001188_hyperpigmentation0.68733859

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.85402138
2Ectopic kidney (HP:0000086)3.17560579
3Chronic hepatic failure (HP:0100626)3.06971511
4Hyperventilation (HP:0002883)3.06005591
5Medial flaring of the eyebrow (HP:0010747)3.04428407
6Exertional dyspnea (HP:0002875)2.99511375
7Molar tooth sign on MRI (HP:0002419)2.96862562
8Abnormality of midbrain morphology (HP:0002418)2.96862562
9Abnormality of the labia minora (HP:0012880)2.95614708
10True hermaphroditism (HP:0010459)2.87835409
11Aplasia/Hypoplasia of the uvula (HP:0010293)2.86530212
12Pancreatic fibrosis (HP:0100732)2.86481932
13Colon cancer (HP:0003003)2.86393073
14Stomach cancer (HP:0012126)2.82292390
15Nephronophthisis (HP:0000090)2.76827385
163-Methylglutaconic aciduria (HP:0003535)2.74348456
17Abnormality of chromosome stability (HP:0003220)2.69817789
18Congenital primary aphakia (HP:0007707)2.61370891
19Absent speech (HP:0001344)2.60709945
20Thyroid-stimulating hormone excess (HP:0002925)2.55901776
21Abnormality of the ileum (HP:0001549)2.55892636
22Meckel diverticulum (HP:0002245)2.51946344
23Gait imbalance (HP:0002141)2.51714514
24Abnormality of the renal medulla (HP:0100957)2.46520723
25Increased CSF lactate (HP:0002490)2.45718756
26Thyroiditis (HP:0100646)2.42826116
27Retinal dysplasia (HP:0007973)2.41060264
28Chromsome breakage (HP:0040012)2.38848395
29Volvulus (HP:0002580)2.38492354
30Atrophy/Degeneration involving motor neurons (HP:0007373)2.36579557
31Fair hair (HP:0002286)2.35621222
32Amyotrophic lateral sclerosis (HP:0007354)2.34088156
33Slender build (HP:0001533)2.33246683
34Congenital stationary night blindness (HP:0007642)2.30499622
35Aplasia/Hypoplasia of the tongue (HP:0010295)2.30236090
36Oligodactyly (hands) (HP:0001180)2.27612877
37Drooling (HP:0002307)2.25754492
38Aplasia/Hypoplasia of the tibia (HP:0005772)2.24567250
39Birth length less than 3rd percentile (HP:0003561)2.24447135
40Nephrogenic diabetes insipidus (HP:0009806)2.24239986
41Chromosomal breakage induced by crosslinking agents (HP:0003221)2.22462446
42Hepatocellular necrosis (HP:0001404)2.19462903
43Type II lissencephaly (HP:0007260)2.17767551
44Mitochondrial inheritance (HP:0001427)2.15445717
45Cutaneous melanoma (HP:0012056)2.15384649
46Dyskinesia (HP:0100660)2.15327278
47Inability to walk (HP:0002540)2.11382577
48Atonic seizures (HP:0010819)2.10955030
49Acute necrotizing encephalopathy (HP:0006965)2.08790906
50Abnormality of the anterior horn cell (HP:0006802)2.07891809
51Degeneration of anterior horn cells (HP:0002398)2.07891809
52Carpal bone hypoplasia (HP:0001498)2.06446898
53Congenital, generalized hypertrichosis (HP:0004540)2.06122539
54Progressive macrocephaly (HP:0004481)2.05278952
55Glioma (HP:0009733)2.02392491
56Protruding tongue (HP:0010808)1.99864072
57Genital tract atresia (HP:0001827)1.99376986
58Progressive inability to walk (HP:0002505)1.98149099
59Abnormality of the renal cortex (HP:0011035)1.97923131
60Astigmatism (HP:0000483)1.97144133
61Excessive salivation (HP:0003781)1.95631676
62Hepatic necrosis (HP:0002605)1.94925453
63Sclerocornea (HP:0000647)1.94874406
64Anencephaly (HP:0002323)1.93510970
65Small hand (HP:0200055)1.93482464
66Hypothermia (HP:0002045)1.92632674
67Gaze-evoked nystagmus (HP:0000640)1.90140660
68IgG deficiency (HP:0004315)1.88854174
69Cystic liver disease (HP:0006706)1.87572775
70Severe combined immunodeficiency (HP:0004430)1.87350973
71Sloping forehead (HP:0000340)1.86553965
72Vaginal atresia (HP:0000148)1.85097550
73Abnormality of the preputium (HP:0100587)1.84880696
74Supernumerary spleens (HP:0009799)1.84679608
75Cerebellar dysplasia (HP:0007033)1.83745246
76Abnormal rod and cone electroretinograms (HP:0008323)1.79839249
77Combined immunodeficiency (HP:0005387)1.79744404
78Broad-based gait (HP:0002136)1.78041554
79Pendular nystagmus (HP:0012043)1.77837840
80Acute encephalopathy (HP:0006846)1.76945909
81Abnormality of macular pigmentation (HP:0008002)1.76803186
82Congenital hepatic fibrosis (HP:0002612)1.76550444
83Short tibia (HP:0005736)1.75125359
84Clubbing of toes (HP:0100760)1.73211068
85Metaphyseal dysplasia (HP:0100255)1.73192745
86Medulloblastoma (HP:0002885)1.72550603
87Abnormal mitochondria in muscle tissue (HP:0008316)1.72469747
88Increased serum lactate (HP:0002151)1.72030211
89Tubulointerstitial nephritis (HP:0001970)1.72020156
90Postaxial hand polydactyly (HP:0001162)1.71270655
91Hypoplasia of the pons (HP:0012110)1.70468977
92Attenuation of retinal blood vessels (HP:0007843)1.70089004
93Constricted visual fields (HP:0001133)1.68225844
94Progressive microcephaly (HP:0000253)1.66893135
95Optic nerve hypoplasia (HP:0000609)1.66889452
96Tented upper lip vermilion (HP:0010804)1.65842434
97Abnormality of the astrocytes (HP:0100707)1.65654857
98Astrocytoma (HP:0009592)1.65654857
99Preaxial hand polydactyly (HP:0001177)1.65535952
100Prostate neoplasm (HP:0100787)1.65444656

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK3.80377993
2TRIM283.75522103
3ERBB33.45255903
4ACVR1B2.72067856
5NUAK12.71850409
6BRSK22.58166396
7BMPR1B2.55788560
8CAMKK22.47149079
9AKT32.41734830
10ZAK2.39073157
11MAP3K42.33848407
12WNK32.33010589
13BCR2.00816984
14EPHA41.99250352
15EIF2AK31.94865554
16SRPK11.74661762
17TNIK1.69380300
18MST41.60498463
19MAP3K121.55674224
20LATS11.55064547
21ADRBK21.47787047
22MAP2K71.44791487
23TLK11.41917271
24MKNK21.41196766
25MAP4K21.38926399
26PLK41.34489874
27PBK1.32794535
28PLK21.30784818
29CSNK1A1L1.29763580
30DYRK21.20554968
31CASK1.20261581
32WEE11.17888493
33GRK11.11931081
34TAF11.11144374
35TAOK31.10338157
36MAPK131.03922506
37CSNK1G31.02479872
38CSNK1G21.00599431
39BUB10.97981565
40CSNK1G10.95857415
41MKNK10.95473062
42STK38L0.93948417
43CDC70.92984426
44NME10.92924389
45SIK30.91964807
46PLK30.91726170
47PDK20.90909229
48BRD40.89192238
49CDK190.85564406
50PAK30.85081183
51GRK70.81434852
52NEK10.80744943
53PLK10.78972884
54EIF2AK20.75738764
55PNCK0.75549464
56OBSCN0.75418870
57OXSR10.74120277
58CAMK1G0.73984790
59BRSK10.71173188
60VRK10.67188923
61STK160.65543976
62PINK10.65529209
63PIK3CA0.64322781
64STK30.62576553
65ATR0.59784176
66TTK0.58068351
67CHEK20.57778898
68INSRR0.57540488
69VRK20.57016255
70BMPR20.55900896
71MARK10.55897697
72TGFBR10.55648336
73CCNB10.54458206
74PRKCE0.54371873
75TEC0.53867050
76PKN10.50603491
77PIK3CG0.50238521
78TXK0.47909584
79CAMK1D0.47377085
80ATM0.46976077
81PRKCG0.44013744
82ERBB40.43971046
83TRPM70.42681184
84BCKDK0.41467973
85AURKB0.41442887
86DAPK10.39239611
87NEK20.38160145
88CSNK1A10.37995339
89PAK60.37665123
90MYLK0.37112098
91TIE10.36298438
92ADRBK10.33885045
93MAP2K40.32771872
94MINK10.32255154
95FLT30.31997645
96IGF1R0.31889865
97EIF2AK10.31695505
98STK390.31485537
99PRKACB0.30722757
100MAPKAPK50.29831123

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030603.74725692
2Homologous recombination_Homo sapiens_hsa034403.04326809
3Fanconi anemia pathway_Homo sapiens_hsa034602.98173203
4Proteasome_Homo sapiens_hsa030502.94846280
5Oxidative phosphorylation_Homo sapiens_hsa001902.78307679
6Mismatch repair_Homo sapiens_hsa034302.77281929
7DNA replication_Homo sapiens_hsa030302.67909783
8Non-homologous end-joining_Homo sapiens_hsa034502.51995204
9Basal transcription factors_Homo sapiens_hsa030222.31199014
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.31136277
11Parkinsons disease_Homo sapiens_hsa050122.11623796
12RNA polymerase_Homo sapiens_hsa030202.10108267
13Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.08214026
14Phototransduction_Homo sapiens_hsa047442.05481386
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.00620159
16Nucleotide excision repair_Homo sapiens_hsa034201.98343790
17Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.97955828
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.95554477
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.90358909
20RNA degradation_Homo sapiens_hsa030181.88630522
21Propanoate metabolism_Homo sapiens_hsa006401.85128103
22RNA transport_Homo sapiens_hsa030131.76545915
23Regulation of autophagy_Homo sapiens_hsa041401.72746426
24Cysteine and methionine metabolism_Homo sapiens_hsa002701.70832516
25Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.66329885
26Huntingtons disease_Homo sapiens_hsa050161.66257840
27Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.53396887
28Alzheimers disease_Homo sapiens_hsa050101.42256865
29Nicotine addiction_Homo sapiens_hsa050331.35571818
30Selenocompound metabolism_Homo sapiens_hsa004501.35187907
31Cell cycle_Homo sapiens_hsa041101.31554175
32Caffeine metabolism_Homo sapiens_hsa002321.29907443
33Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.27658531
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.27108013
35Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.20092746
36Cardiac muscle contraction_Homo sapiens_hsa042601.14396312
37Asthma_Homo sapiens_hsa053101.13305690
38Butanoate metabolism_Homo sapiens_hsa006501.09822997
39Oocyte meiosis_Homo sapiens_hsa041141.05819484
40Base excision repair_Homo sapiens_hsa034101.03884920
41Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.02450832
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.00892801
43Fatty acid elongation_Homo sapiens_hsa000621.00798208
44Collecting duct acid secretion_Homo sapiens_hsa049661.00573518
45Tryptophan metabolism_Homo sapiens_hsa003800.98774007
46Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.93467266
47Primary immunodeficiency_Homo sapiens_hsa053400.88670771
48Spliceosome_Homo sapiens_hsa030400.87771369
49Purine metabolism_Homo sapiens_hsa002300.85821760
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.84778466
51Taste transduction_Homo sapiens_hsa047420.81436868
52GABAergic synapse_Homo sapiens_hsa047270.79602505
53Olfactory transduction_Homo sapiens_hsa047400.78906582
54p53 signaling pathway_Homo sapiens_hsa041150.78819457
55Primary bile acid biosynthesis_Homo sapiens_hsa001200.78360462
56Peroxisome_Homo sapiens_hsa041460.77017289
57Pyrimidine metabolism_Homo sapiens_hsa002400.75555763
58Circadian rhythm_Homo sapiens_hsa047100.75073320
59Morphine addiction_Homo sapiens_hsa050320.73221973
60Intestinal immune network for IgA production_Homo sapiens_hsa046720.72703704
61Ether lipid metabolism_Homo sapiens_hsa005650.67504516
62Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.67233733
63Steroid biosynthesis_Homo sapiens_hsa001000.66512326
64Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.65231241
65mRNA surveillance pathway_Homo sapiens_hsa030150.63550462
66Glutathione metabolism_Homo sapiens_hsa004800.62313715
67Nitrogen metabolism_Homo sapiens_hsa009100.61662537
68One carbon pool by folate_Homo sapiens_hsa006700.59962895
69Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.58157047
70Linoleic acid metabolism_Homo sapiens_hsa005910.55878811
71Rheumatoid arthritis_Homo sapiens_hsa053230.55590401
72Metabolic pathways_Homo sapiens_hsa011000.54775133
73Steroid hormone biosynthesis_Homo sapiens_hsa001400.54700071
74Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.52252329
75Serotonergic synapse_Homo sapiens_hsa047260.50722903
76Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.49166894
77ABC transporters_Homo sapiens_hsa020100.47640240
78Allograft rejection_Homo sapiens_hsa053300.44262849
79Sphingolipid metabolism_Homo sapiens_hsa006000.43408847
80Sulfur metabolism_Homo sapiens_hsa009200.43001734
81Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.42155929
82alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.39649545
83beta-Alanine metabolism_Homo sapiens_hsa004100.38927635
84Systemic lupus erythematosus_Homo sapiens_hsa053220.37131523
85Glutamatergic synapse_Homo sapiens_hsa047240.36202649
86Chemical carcinogenesis_Homo sapiens_hsa052040.35450791
87Graft-versus-host disease_Homo sapiens_hsa053320.35342543
88Alcoholism_Homo sapiens_hsa050340.31179107
89Pyruvate metabolism_Homo sapiens_hsa006200.30317953
90Circadian entrainment_Homo sapiens_hsa047130.29773543
91Autoimmune thyroid disease_Homo sapiens_hsa053200.28444728
92Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.27591699
93Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27492160
94Dopaminergic synapse_Homo sapiens_hsa047280.25316763
95Hedgehog signaling pathway_Homo sapiens_hsa043400.22797550
96Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.21404154
97Legionellosis_Homo sapiens_hsa051340.20439196
98Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.18705137
99Type I diabetes mellitus_Homo sapiens_hsa049400.18399056
100Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.14788514

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