C12ORF57

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 ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1viral transcription (GO:0019083)8.51232743
2translational termination (GO:0006415)8.01853724
3mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.95017428
4SRP-dependent cotranslational protein targeting to membrane (GO:0006614)6.88709739
5cotranslational protein targeting to membrane (GO:0006613)6.80953827
6ribosomal small subunit assembly (GO:0000028)6.72809561
7protein targeting to ER (GO:0045047)6.72759903
8translational elongation (GO:0006414)6.60177789
9energy coupled proton transport, down electrochemical gradient (GO:0015985)6.43351398
10ATP synthesis coupled proton transport (GO:0015986)6.43351398
11establishment of protein localization to endoplasmic reticulum (GO:0072599)6.42313455
12mitochondrial respiratory chain complex I assembly (GO:0032981)6.36320121
13NADH dehydrogenase complex assembly (GO:0010257)6.36320121
14mitochondrial respiratory chain complex I biogenesis (GO:0097031)6.36320121
15protein localization to endoplasmic reticulum (GO:0070972)6.31962132
16cellular protein complex disassembly (GO:0043624)6.22133191
17protein complex biogenesis (GO:0070271)6.14576915
18viral life cycle (GO:0019058)6.05727463
19ribosomal small subunit biogenesis (GO:0042274)6.03229825
20mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.94500270
21nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)5.80096126
22mitochondrial respiratory chain complex assembly (GO:0033108)5.64567075
23translational initiation (GO:0006413)5.39382718
24respiratory electron transport chain (GO:0022904)5.33624990
25electron transport chain (GO:0022900)5.24621083
26protein complex disassembly (GO:0043241)5.24481556
27maturation of SSU-rRNA (GO:0030490)5.24346344
28establishment of protein localization to mitochondrial membrane (GO:0090151)5.17893312
29macromolecular complex disassembly (GO:0032984)4.92170885
30chaperone-mediated protein transport (GO:0072321)4.80731939
31sequestering of actin monomers (GO:0042989)4.67771834
32protein targeting to membrane (GO:0006612)4.49790189
33nuclear-transcribed mRNA catabolic process (GO:0000956)4.17925224
34translation (GO:0006412)4.17316459
35sulfation (GO:0051923)4.07224138
36protein neddylation (GO:0045116)3.93335190
37mRNA catabolic process (GO:0006402)3.91807956
38cellular component biogenesis (GO:0044085)3.68278343
39ATP biosynthetic process (GO:0006754)3.62164036
40ribosomal large subunit biogenesis (GO:0042273)3.57920787
41behavioral response to nicotine (GO:0035095)3.51218515
42hydrogen ion transmembrane transport (GO:1902600)3.50920509
43RNA catabolic process (GO:0006401)3.43816550
44intracellular protein transmembrane import (GO:0044743)3.36786853
45purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.33667663
46purine nucleoside triphosphate biosynthetic process (GO:0009145)3.28378534
47termination of RNA polymerase III transcription (GO:0006386)3.20384765
48transcription elongation from RNA polymerase III promoter (GO:0006385)3.20384765
49establishment of protein localization to membrane (GO:0090150)3.14365671
50proton transport (GO:0015992)3.06989846
51protein targeting (GO:0006605)3.05158640
52ribonucleoprotein complex biogenesis (GO:0022613)3.04254582
53hydrogen transport (GO:0006818)3.00151133
54establishment of protein localization to mitochondrion (GO:0072655)2.96681218
55protein targeting to mitochondrion (GO:0006626)2.94311660
56ribonucleoside triphosphate biosynthetic process (GO:0009201)2.94035704
57establishment of protein localization to organelle (GO:0072594)2.93248957
58regulation of mitochondrial translation (GO:0070129)2.88568593
59regulation of somitogenesis (GO:0014807)2.86770889
60rRNA modification (GO:0000154)2.84059418
61protein-cofactor linkage (GO:0018065)2.83902176
62cell proliferation in forebrain (GO:0021846)2.81124411
63protein localization to mitochondrion (GO:0070585)2.79228809
64positive regulation of gastrulation (GO:2000543)2.78932829
65respiratory chain complex IV assembly (GO:0008535)2.78162668
66nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.74695417
67cytochrome complex assembly (GO:0017004)2.70573488
68viral mRNA export from host cell nucleus (GO:0046784)2.66315212
69DNA integration (GO:0015074)2.66290010
70inner mitochondrial membrane organization (GO:0007007)2.63484643
71spliceosomal complex assembly (GO:0000245)2.62896624
72water-soluble vitamin biosynthetic process (GO:0042364)2.61117810
73exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.61014724
74intracellular protein transmembrane transport (GO:0065002)2.54848693
75epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.54473031
76rRNA processing (GO:0006364)2.54102462
77protein localization to membrane (GO:0072657)2.53465336
78thalamus development (GO:0021794)2.53018118
79nucleoside triphosphate biosynthetic process (GO:0009142)2.51165496
80mannosylation (GO:0097502)2.49371427
81mitochondrial transport (GO:0006839)2.48216101
82protein transmembrane transport (GO:0071806)2.47356249
83neuron fate determination (GO:0048664)2.46911254
84rRNA metabolic process (GO:0016072)2.45229019
85otic vesicle formation (GO:0030916)2.43706267
86GTP biosynthetic process (GO:0006183)2.43429150
87transmission of nerve impulse (GO:0019226)2.43044293
88DNA deamination (GO:0045006)2.42665045
89deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.41848190
90somite development (GO:0061053)2.41765404
91membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.41386987
92retinal ganglion cell axon guidance (GO:0031290)2.37653023
93platelet dense granule organization (GO:0060155)2.34646574
94striatum development (GO:0021756)2.32051630
95tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.30140581
96RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.30140581
97base-excision repair, AP site formation (GO:0006285)2.27410089
98DNA damage response, detection of DNA damage (GO:0042769)2.26162040
99negative regulation of telomere maintenance (GO:0032205)2.25888111
100pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.25058458

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.46796397
2GABP_17652178_ChIP-ChIP_JURKAT_Human3.92075766
3* EST1_17652178_ChIP-ChIP_JURKAT_Human3.74430505
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.49104703
5EZH2_22144423_ChIP-Seq_EOC_Human3.32893230
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.25749135
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.19723971
8SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.91362960
9* ETS1_20019798_ChIP-Seq_JURKAT_Human2.83939421
10TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.76212968
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.71392949
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.65525695
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.58997553
14STAT6_21828071_ChIP-Seq_BEAS2B_Human2.42486642
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.35590455
16* XRN2_22483619_ChIP-Seq_HELA_Human2.33809460
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.27259768
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.23178480
19HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.18929953
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.13122504
21VDR_23849224_ChIP-Seq_CD4+_Human2.09772735
22* TTF2_22483619_ChIP-Seq_HELA_Human2.06500034
23NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.06487492
24POU5F1_16153702_ChIP-ChIP_HESCs_Human2.05131786
25YY1_21170310_ChIP-Seq_MESCs_Mouse2.04101644
26CBX2_27304074_Chip-Seq_ESCs_Mouse2.01905262
27* ELK1_19687146_ChIP-ChIP_HELA_Human1.93911323
28RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.93271458
29CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.88872929
30ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.86338910
31BMI1_23680149_ChIP-Seq_NPCS_Mouse1.83985656
32EZH2_27304074_Chip-Seq_ESCs_Mouse1.83979646
33TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.80863272
34MYC_18940864_ChIP-ChIP_HL60_Human1.79232451
35SOX2_16153702_ChIP-ChIP_HESCs_Human1.77295662
36KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.71461986
37PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.67691343
38MYC_18358816_ChIP-ChIP_MESCs_Mouse1.66224991
39THAP11_20581084_ChIP-Seq_MESCs_Mouse1.65795603
40MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.60717647
41MYC_19079543_ChIP-ChIP_MESCs_Mouse1.60642577
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.59666432
43SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.58076220
44MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.57385117
45* FOXP3_21729870_ChIP-Seq_TREG_Human1.56950760
46JARID2_20075857_ChIP-Seq_MESCs_Mouse1.50331452
47SRF_21415370_ChIP-Seq_HL-1_Mouse1.47285528
48JARID2_20064375_ChIP-Seq_MESCs_Mouse1.45494756
49POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.44554888
50IRF1_19129219_ChIP-ChIP_H3396_Human1.44037543
51* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.41836474
52TP63_19390658_ChIP-ChIP_HaCaT_Human1.38678581
53MYC_19030024_ChIP-ChIP_MESCs_Mouse1.37643761
54ELF1_17652178_ChIP-ChIP_JURKAT_Human1.34607560
55TP53_20018659_ChIP-ChIP_R1E_Mouse1.32369471
56RNF2_27304074_Chip-Seq_NSC_Mouse1.30984858
57LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29519608
58BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.29439957
59* E2F4_17652178_ChIP-ChIP_JURKAT_Human1.28993393
60SOX2_18555785_ChIP-Seq_MESCs_Mouse1.26805260
61EZH2_18974828_ChIP-Seq_MESCs_Mouse1.25195082
62RNF2_18974828_ChIP-Seq_MESCs_Mouse1.25195082
63CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.24260737
64SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.24128886
65EZH2_27294783_Chip-Seq_ESCs_Mouse1.23460183
66NANOG_16153702_ChIP-ChIP_HESCs_Human1.22804979
67TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21559130
68SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.18441520
69* DCP1A_22483619_ChIP-Seq_HELA_Human1.17116943
70* ELK1_22589737_ChIP-Seq_MCF10A_Human1.16613591
71SUZ12_27294783_Chip-Seq_ESCs_Mouse1.12805519
72EWS_26573619_Chip-Seq_HEK293_Human1.12399114
73MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.12048450
74VDR_22108803_ChIP-Seq_LS180_Human1.11639100
75E2F1_18555785_ChIP-Seq_MESCs_Mouse1.11118957
76FUS_26573619_Chip-Seq_HEK293_Human1.09270981
77ZNF274_21170338_ChIP-Seq_K562_Hela1.09025890
78SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.07884245
79GABP_19822575_ChIP-Seq_HepG2_Human1.07720040
80RBPJ_22232070_ChIP-Seq_NCS_Mouse1.03904232
81BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.03786998
82SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.01839576
83IKZF1_21737484_ChIP-ChIP_HCT116_Human1.00867089
84RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99117372
85GATA1_26923725_Chip-Seq_HPCs_Mouse0.98291124
86* FOXP1_21924763_ChIP-Seq_HESCs_Human0.98283932
87FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.96322304
88PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.95202156
89RNF2_27304074_Chip-Seq_ESCs_Mouse0.92984124
90CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.92950226
91YY1_22570637_ChIP-Seq_MALME-3M_Human0.92415448
92* PADI4_21655091_ChIP-ChIP_MCF-7_Human0.86846577
93SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.84807323
94SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.83123398
95CTCF_18555785_ChIP-Seq_MESCs_Mouse0.82138325
96EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.80590005
97E2F1_17053090_ChIP-ChIP_MCF-7_Human0.80422928
98GBX2_23144817_ChIP-Seq_PC3_Human0.80084234
99ZFP57_27257070_Chip-Seq_ESCs_Mouse0.79392317
100REST_21632747_ChIP-Seq_MESCs_Mouse0.77970091

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation5.49065871
2MP0010030_abnormal_orbit_morphology3.46210081
3MP0006292_abnormal_olfactory_placode2.41427432
4MP0000049_abnormal_middle_ear2.26925871
5MP0002938_white_spotting2.26775135
6MP0003136_yellow_coat_color2.20513327
7MP0005423_abnormal_somatic_nervous2.19964281
8MP0001529_abnormal_vocalization2.11497851
9MP0003880_abnormal_central_pattern2.08927528
10MP0002638_abnormal_pupillary_reflex2.08112806
11MP0006072_abnormal_retinal_apoptosis2.06559935
12MP0002653_abnormal_ependyma_morphology2.03374931
13MP0002163_abnormal_gland_morphology2.00489357
14MP0004142_abnormal_muscle_tone1.94305424
15MP0000631_abnormal_neuroendocrine_gland1.93404903
16MP0002822_catalepsy1.89287287
17MP0002736_abnormal_nociception_after1.78957037
18MP0006276_abnormal_autonomic_nervous1.77358470
19MP0001905_abnormal_dopamine_level1.75845362
20MP0000372_irregular_coat_pigmentation1.74352755
21MP0004133_heterotaxia1.72916654
22MP0002272_abnormal_nervous_system1.72577545
23MP0004885_abnormal_endolymph1.70555901
24MP0001968_abnormal_touch/_nociception1.70025037
25MP0001485_abnormal_pinna_reflex1.65008112
26MP0001502_abnormal_circadian_rhythm1.64095984
27MP0002160_abnormal_reproductive_system1.60897704
28MP0002735_abnormal_chemical_nociception1.54505814
29MP0008789_abnormal_olfactory_epithelium1.45171273
30MP0005171_absent_coat_pigmentation1.43843379
31MP0000026_abnormal_inner_ear1.43818760
32MP0002102_abnormal_ear_morphology1.43407409
33MP0003011_delayed_dark_adaptation1.42861791
34MP0009745_abnormal_behavioral_response1.42129097
35MP0005551_abnormal_eye_electrophysiolog1.41053768
36MP0009250_abnormal_appendicular_skeleto1.36445905
37MP0000778_abnormal_nervous_system1.35723657
38MP0009046_muscle_twitch1.33424932
39MP0005253_abnormal_eye_physiology1.29957098
40MP0005499_abnormal_olfactory_system1.25784110
41MP0005394_taste/olfaction_phenotype1.25784110
42MP0003938_abnormal_ear_development1.23016782
43MP0002064_seizures1.21839721
44MP0008058_abnormal_DNA_repair1.21448085
45MP0004742_abnormal_vestibular_system1.19675390
46MP0002557_abnormal_social/conspecific_i1.19591088
47MP0005646_abnormal_pituitary_gland1.19146736
48MP0001440_abnormal_grooming_behavior1.18998736
49MP0003635_abnormal_synaptic_transmissio1.15545803
50MP0002277_abnormal_respiratory_mucosa1.13064687
51MP0005389_reproductive_system_phenotype1.12870537
52MP0000750_abnormal_muscle_regeneration1.12668998
53MP0001986_abnormal_taste_sensitivity1.12228782
54MP0002572_abnormal_emotion/affect_behav1.10429416
55MP0002752_abnormal_somatic_nervous1.09893628
56MP0008995_early_reproductive_senescence1.09746923
57MP0002734_abnormal_mechanical_nocicepti1.07324629
58MP0004145_abnormal_muscle_electrophysio1.05253787
59MP0001293_anophthalmia1.05206163
60MP0001984_abnormal_olfaction1.04888714
61MP0001879_abnormal_lymphatic_vessel1.04490792
62MP0001486_abnormal_startle_reflex1.04398347
63MP0003937_abnormal_limbs/digits/tail_de1.04138863
64MP0002751_abnormal_autonomic_nervous1.03142083
65MP0003567_abnormal_fetal_cardiomyocyte1.02896841
66MP0002932_abnormal_joint_morphology1.02295194
67MP0003119_abnormal_digestive_system1.02114435
68MP0002184_abnormal_innervation1.01149113
69MP0001970_abnormal_pain_threshold1.01111624
70MP0002063_abnormal_learning/memory/cond1.00829598
71MP0002837_dystrophic_cardiac_calcinosis1.00415494
72MP0005084_abnormal_gallbladder_morpholo0.99549028
73MP0003693_abnormal_embryo_hatching0.99078832
74MP0002282_abnormal_trachea_morphology0.98619198
75MP0001963_abnormal_hearing_physiology0.97637512
76MP0005503_abnormal_tendon_morphology0.94555888
77MP0000566_synostosis0.91939313
78MP0002210_abnormal_sex_determination0.91414791
79MP0008872_abnormal_physiological_respon0.90408614
80MP0005379_endocrine/exocrine_gland_phen0.89788256
81MP0005195_abnormal_posterior_eye0.89522795
82MP0003755_abnormal_palate_morphology0.87700610
83MP0002067_abnormal_sensory_capabilities0.85985678
84MP0000955_abnormal_spinal_cord0.85609884
85MP0002882_abnormal_neuron_morphology0.82610167
86MP0003283_abnormal_digestive_organ0.82522110
87MP0010386_abnormal_urinary_bladder0.79319645
88MP0004859_abnormal_synaptic_plasticity0.78369028
89MP0003959_abnormal_lean_body0.77913988
90MP0002095_abnormal_skin_pigmentation0.76756548
91MP0001145_abnormal_male_reproductive0.76720602
92MP0005645_abnormal_hypothalamus_physiol0.76637876
93MP0005391_vision/eye_phenotype0.76198105
94MP0001346_abnormal_lacrimal_gland0.76093300
95MP0000653_abnormal_sex_gland0.76041163
96MP0002116_abnormal_craniofacial_bone0.75842905
97MP0002733_abnormal_thermal_nociception0.73520569
98MP0001286_abnormal_eye_development0.72613186
99MP0002928_abnormal_bile_duct0.72199133
100MP0003942_abnormal_urinary_system0.71288510

Predicted human phenotypes

RankGene SetZ-score
1Abnormal number of erythroid precursors (HP:0012131)5.46582511
2Abnormality of cells of the erythroid lineage (HP:0012130)5.36332795
3Mitochondrial inheritance (HP:0001427)5.21075427
4Acute necrotizing encephalopathy (HP:0006965)5.05642192
5Hepatocellular necrosis (HP:0001404)4.66713706
6Abnormal mitochondria in muscle tissue (HP:0008316)4.53771918
7Increased hepatocellular lipid droplets (HP:0006565)4.27126344
8Acute encephalopathy (HP:0006846)4.22648114
9Increased CSF lactate (HP:0002490)4.20534020
10Progressive macrocephaly (HP:0004481)4.13073407
11Reticulocytopenia (HP:0001896)4.11012494
12Hepatic necrosis (HP:0002605)4.04891707
13Lipid accumulation in hepatocytes (HP:0006561)3.93373082
14Oral leukoplakia (HP:0002745)3.77548120
15Renal Fanconi syndrome (HP:0001994)3.69232162
16Macrocytic anemia (HP:0001972)3.32136073
17Congenital, generalized hypertrichosis (HP:0004540)3.29083355
18Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.27274455
19Anomalous pulmonary venous return (HP:0010772)3.17640911
20Cerebral edema (HP:0002181)3.08003848
213-Methylglutaconic aciduria (HP:0003535)2.99741369
22True hermaphroditism (HP:0010459)2.99025804
23Pancreatic cysts (HP:0001737)2.93751070
24Increased intramyocellular lipid droplets (HP:0012240)2.91568186
25Pancreatic fibrosis (HP:0100732)2.90765176
26Pallor (HP:0000980)2.87156080
27Abnormality of the pulmonary veins (HP:0011718)2.83823359
28Septo-optic dysplasia (HP:0100842)2.79538311
29Rib fusion (HP:0000902)2.76914306
30Optic disc pallor (HP:0000543)2.69224327
31Exertional dyspnea (HP:0002875)2.59525639
32Hypoplastic pelvis (HP:0008839)2.50584878
33Abnormality of renal resorption (HP:0011038)2.50057719
34Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.43720863
35Increased muscle lipid content (HP:0009058)2.43195298
36Leukodystrophy (HP:0002415)2.42636490
37Nephronophthisis (HP:0000090)2.41998397
38Abnormality of midbrain morphology (HP:0002418)2.41650038
39Molar tooth sign on MRI (HP:0002419)2.41650038
40Decreased activity of mitochondrial respiratory chain (HP:0008972)2.40749845
41Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.40749845
42Abnormality of the phalanges of the 2nd finger (HP:0009541)2.40359474
43Lactic acidosis (HP:0003128)2.35241896
44Respiratory failure (HP:0002878)2.34468471
45Concave nail (HP:0001598)2.33199760
46Exercise intolerance (HP:0003546)2.32853503
47Pendular nystagmus (HP:0012043)2.30734341
48Increased serum lactate (HP:0002151)2.25784423
49Absent thumb (HP:0009777)2.22160746
50Myokymia (HP:0002411)2.15492949
51Sclerocornea (HP:0000647)2.14101091
52Anencephaly (HP:0002323)2.05183624
53Hypoplasia of the pons (HP:0012110)2.00887804
54Abnormality of the proximal phalanges of the hand (HP:0009834)2.00680577
55Conjunctival hamartoma (HP:0100780)1.97039370
56Vertebral fusion (HP:0002948)1.95496426
57Asplenia (HP:0001746)1.93048298
58Aplasia/Hypoplasia of the spleen (HP:0010451)1.91712836
59Hemivertebrae (HP:0002937)1.91330152
60Furrowed tongue (HP:0000221)1.90866048
61Medial flaring of the eyebrow (HP:0010747)1.90776312
62Symphalangism affecting the phalanges of the hand (HP:0009773)1.89681757
63Stenosis of the external auditory canal (HP:0000402)1.87880293
64Respiratory difficulties (HP:0002880)1.85454816
65Aplastic anemia (HP:0001915)1.84492291
66Abnormality of DNA repair (HP:0003254)1.84246644
67Colon cancer (HP:0003003)1.83661834
68Abnormality of the middle phalanges of the toes (HP:0010183)1.83246062
69Type II lissencephaly (HP:0007260)1.82531178
70Abnormality of the pons (HP:0007361)1.82397144
71Optic nerve hypoplasia (HP:0000609)1.82237568
72Limb dystonia (HP:0002451)1.80444303
73Short femoral neck (HP:0100864)1.80165919
74Short tibia (HP:0005736)1.79970083
75Congenital stationary night blindness (HP:0007642)1.79818137
76Aplasia/hypoplasia of the uterus (HP:0008684)1.78465466
77Carpal bone hypoplasia (HP:0001498)1.78355486
78Abnormality of urine glucose concentration (HP:0011016)1.77465463
79Glycosuria (HP:0003076)1.77465463
80Premature graying of hair (HP:0002216)1.76003792
81Aplasia/Hypoplasia of the sacrum (HP:0008517)1.75521754
82Emotional lability (HP:0000712)1.75496447
83Cystic liver disease (HP:0006706)1.74396213
84Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.73746957
85Male pseudohermaphroditism (HP:0000037)1.72818563
86Hypoplasia of the ulna (HP:0003022)1.72268530
87Anophthalmia (HP:0000528)1.71849485
88Hyperphosphaturia (HP:0003109)1.71676105
89Aplasia/Hypoplasia of the patella (HP:0006498)1.70525313
90Triphalangeal thumb (HP:0001199)1.68022414
91Abnormality of the renal medulla (HP:0100957)1.67663087
92Methylmalonic acidemia (HP:0002912)1.67649321
93Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.66984980
94Aplasia/Hypoplasia of the tongue (HP:0010295)1.65841998
95Partial duplication of the phalanx of hand (HP:0009999)1.64695243
96Absent septum pellucidum (HP:0001331)1.64303278
97X-linked dominant inheritance (HP:0001423)1.63733404
98Squamous cell carcinoma (HP:0002860)1.62789048
99CNS demyelination (HP:0007305)1.62310987
100Depressed nasal ridge (HP:0000457)1.62007139

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TLK15.00579662
2VRK24.96421778
3STK164.31599145
4ZAK4.28698482
5VRK13.36087897
6NME22.33877711
7TAF12.25122394
8DYRK22.05344815
9CASK1.92241646
10BUB11.81670448
11DYRK31.76448963
12CDK191.71170002
13MAP2K71.61413844
14RPS6KA51.60570521
15MAPK151.59838756
16NME11.55059685
17GRK11.53806394
18BCKDK1.47481726
19DAPK31.39020671
20WNK31.37269380
21MARK11.35132865
22EPHB21.34618702
23INSRR1.33426936
24MAP3K41.31632551
25ADRBK21.31500229
26NUAK11.30988812
27GRK51.29083035
28AURKA1.27130288
29CDC71.24923769
30TESK21.22367642
31BLK1.20015803
32GRK71.14320878
33PIM21.14111321
34PDK21.13597844
35PKN11.08976585
36CSNK1G31.02098494
37TNIK1.01842818
38MAPK130.99444221
39BMPR1B0.97746590
40UHMK10.97009861
41CSNK1G20.96179412
42ADRBK10.95686154
43TRIM280.94198987
44ABL20.93761897
45MAP4K20.88374608
46TIE10.87628504
47PRKCG0.83671625
48CSNK1G10.83292061
49WNK40.81429333
50EPHA40.80408365
51PASK0.78633667
52AURKB0.72993426
53MAPKAPK50.70320403
54RPS6KA60.69154708
55CCNB10.67276477
56CSNK1A1L0.66771961
57NTRK20.66140327
58SGK4940.65150256
59SGK2230.65150256
60CHEK20.63481933
61SRPK10.62301075
62PHKG10.59838336
63PHKG20.59838336
64PRKACA0.57373934
65LRRK20.57127651
66IKBKB0.56898602
67STK40.55423212
68RPS6KC10.53135817
69RPS6KL10.53135817
70PIM10.52048017
71MUSK0.49915749
72STK110.49656627
73PAK30.49400291
74NEK20.49140763
75CSNK2A10.48373537
76WEE10.46381587
77DYRK1A0.43803568
78DYRK1B0.43196298
79ILK0.42944806
80BRSK10.41720614
81CSNK2A20.41279341
82CAMK2A0.41183532
83PLK10.40877808
84CAMK2B0.40535371
85CDK80.38429446
86MYLK0.37690664
87ATR0.37177859
88SGK20.35885871
89FGFR10.34950146
90NTRK30.34586614
91CSNK1A10.33967281
92PINK10.32827076
93CAMK2G0.31465489
94MAP3K120.30753022
95CAMK10.30194900
96MAPK40.29433768
97PRKCE0.29220846
98PRKCI0.28657630
99FGFR20.28210981
100TXK0.28057176

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030106.42791586
2Oxidative phosphorylation_Homo sapiens_hsa001905.30745829
3Parkinsons disease_Homo sapiens_hsa050124.56448332
4Huntingtons disease_Homo sapiens_hsa050163.33702771
5Alzheimers disease_Homo sapiens_hsa050103.26413549
6Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.95776698
7Cardiac muscle contraction_Homo sapiens_hsa042602.77290926
8Systemic lupus erythematosus_Homo sapiens_hsa053222.62784072
9RNA polymerase_Homo sapiens_hsa030202.55007704
10Proteasome_Homo sapiens_hsa030502.32679528
11Protein export_Homo sapiens_hsa030602.32671832
12Alcoholism_Homo sapiens_hsa050342.15927951
13Sulfur relay system_Homo sapiens_hsa041221.79203075
14Nicotine addiction_Homo sapiens_hsa050331.73586900
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.48923778
16Spliceosome_Homo sapiens_hsa030401.48902549
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.40764995
18Homologous recombination_Homo sapiens_hsa034401.37795087
19Maturity onset diabetes of the young_Homo sapiens_hsa049501.33976792
20Basal transcription factors_Homo sapiens_hsa030221.30135212
21Fanconi anemia pathway_Homo sapiens_hsa034601.24590448
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.23022775
23Mismatch repair_Homo sapiens_hsa034301.19988184
24Basal cell carcinoma_Homo sapiens_hsa052171.19048105
25Pyrimidine metabolism_Homo sapiens_hsa002401.12930843
26Folate biosynthesis_Homo sapiens_hsa007901.11763774
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.11235482
28Hedgehog signaling pathway_Homo sapiens_hsa043401.11152214
29Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.03212942
30DNA replication_Homo sapiens_hsa030301.01952502
31Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.96165216
32Morphine addiction_Homo sapiens_hsa050320.94251722
33Nucleotide excision repair_Homo sapiens_hsa034200.94025348
34Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.93013437
35Phototransduction_Homo sapiens_hsa047440.92358862
36Sulfur metabolism_Homo sapiens_hsa009200.91059435
37RNA degradation_Homo sapiens_hsa030180.84676876
38Purine metabolism_Homo sapiens_hsa002300.82182229
39GABAergic synapse_Homo sapiens_hsa047270.77308682
40Taste transduction_Homo sapiens_hsa047420.76016154
41Nitrogen metabolism_Homo sapiens_hsa009100.72218929
42Collecting duct acid secretion_Homo sapiens_hsa049660.71740092
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.71217040
44Linoleic acid metabolism_Homo sapiens_hsa005910.70632009
45Base excision repair_Homo sapiens_hsa034100.67923695
46Cocaine addiction_Homo sapiens_hsa050300.66257437
47RNA transport_Homo sapiens_hsa030130.63388033
48Metabolic pathways_Homo sapiens_hsa011000.62321130
49Glutathione metabolism_Homo sapiens_hsa004800.62030814
50Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.61740887
51Chemical carcinogenesis_Homo sapiens_hsa052040.60823809
52alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.56738164
53Glutamatergic synapse_Homo sapiens_hsa047240.55849377
54One carbon pool by folate_Homo sapiens_hsa006700.55148835
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54782461
56Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.51142283
57Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.50811576
58Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50199393
59Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.49312390
60Selenocompound metabolism_Homo sapiens_hsa004500.48725017
61Regulation of autophagy_Homo sapiens_hsa041400.48142102
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.47715942
63Amphetamine addiction_Homo sapiens_hsa050310.46820353
64Insulin secretion_Homo sapiens_hsa049110.45884269
65Tyrosine metabolism_Homo sapiens_hsa003500.45805199
66Cholinergic synapse_Homo sapiens_hsa047250.45399141
67Peroxisome_Homo sapiens_hsa041460.45164068
68Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.44794016
69Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.44622301
70Pyruvate metabolism_Homo sapiens_hsa006200.43555669
71Vitamin digestion and absorption_Homo sapiens_hsa049770.42598018
72Synaptic vesicle cycle_Homo sapiens_hsa047210.42252236
73Serotonergic synapse_Homo sapiens_hsa047260.40339173
74Wnt signaling pathway_Homo sapiens_hsa043100.39394774
75Circadian entrainment_Homo sapiens_hsa047130.38648848
76Fatty acid elongation_Homo sapiens_hsa000620.35898259
77Arachidonic acid metabolism_Homo sapiens_hsa005900.34306776
78Olfactory transduction_Homo sapiens_hsa047400.33386262
79Viral carcinogenesis_Homo sapiens_hsa052030.32137908
80Butanoate metabolism_Homo sapiens_hsa006500.31886581
81TGF-beta signaling pathway_Homo sapiens_hsa043500.31421960
82Hippo signaling pathway_Homo sapiens_hsa043900.29739899
83Dopaminergic synapse_Homo sapiens_hsa047280.27982371
84Retinol metabolism_Homo sapiens_hsa008300.27002646
85p53 signaling pathway_Homo sapiens_hsa041150.26860740
86Tryptophan metabolism_Homo sapiens_hsa003800.26002890
87Circadian rhythm_Homo sapiens_hsa047100.25344623
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.24770295
89Cyanoamino acid metabolism_Homo sapiens_hsa004600.24522800
90Ovarian steroidogenesis_Homo sapiens_hsa049130.24145738
91Steroid hormone biosynthesis_Homo sapiens_hsa001400.24117583
92Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.23938280
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.23308636
94Axon guidance_Homo sapiens_hsa043600.21602818
95Calcium signaling pathway_Homo sapiens_hsa040200.21087020
96Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.20748240
97Melanogenesis_Homo sapiens_hsa049160.20581534
98Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.20276703
99Transcriptional misregulation in cancer_Homo sapiens_hsa052020.20079436
100Oocyte meiosis_Homo sapiens_hsa041140.18771008

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