POLR2J2

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 a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1indolalkylamine catabolic process (GO:0046218)4.59464134
2tryptophan catabolic process (GO:0006569)4.59464134
3indole-containing compound catabolic process (GO:0042436)4.59464134
4neural tube formation (GO:0001841)4.51028150
5tryptophan metabolic process (GO:0006568)4.07205520
6indolalkylamine metabolic process (GO:0006586)4.06831351
7L-fucose catabolic process (GO:0042355)3.90319531
8fucose catabolic process (GO:0019317)3.90319531
9L-fucose metabolic process (GO:0042354)3.90319531
10kynurenine metabolic process (GO:0070189)3.78983422
11behavioral response to nicotine (GO:0035095)3.54200366
12mannosylation (GO:0097502)3.47799695
13cellular biogenic amine catabolic process (GO:0042402)3.45570838
14amine catabolic process (GO:0009310)3.45570838
15axoneme assembly (GO:0035082)3.39135078
16positive regulation of defense response to virus by host (GO:0002230)3.34217775
17regulation of memory T cell differentiation (GO:0043380)3.27611479
18establishment of protein localization to Golgi (GO:0072600)3.26831597
19cellular response to exogenous dsRNA (GO:0071360)3.21692300
20DNA deamination (GO:0045006)3.21094980
21regulation of B cell receptor signaling pathway (GO:0050855)3.19238599
22platelet dense granule organization (GO:0060155)3.16189183
23DNA double-strand break processing (GO:0000729)3.07686543
24positive regulation of granulocyte differentiation (GO:0030854)3.05234304
25positive regulation of developmental pigmentation (GO:0048087)3.04350920
26adenosine metabolic process (GO:0046085)3.03035566
27positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.01337650
28response to pheromone (GO:0019236)2.99300319
29negative T cell selection (GO:0043383)2.95401334
30photoreceptor cell maintenance (GO:0045494)2.93222960
31preassembly of GPI anchor in ER membrane (GO:0016254)2.92394627
32respiratory chain complex IV assembly (GO:0008535)2.91064162
33detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.90860094
34protein K11-linked deubiquitination (GO:0035871)2.88070311
35negative thymic T cell selection (GO:0045060)2.86925340
36cilium or flagellum-dependent cell motility (GO:0001539)2.85039033
37cytochrome complex assembly (GO:0017004)2.83782179
38signal peptide processing (GO:0006465)2.81573202
39detection of light stimulus involved in visual perception (GO:0050908)2.78939798
40detection of light stimulus involved in sensory perception (GO:0050962)2.78939798
41positive regulation of gamma-delta T cell activation (GO:0046645)2.73814050
42nonmotile primary cilium assembly (GO:0035058)2.73677113
43piRNA metabolic process (GO:0034587)2.71552671
44protein targeting to Golgi (GO:0000042)2.70764816
45activated T cell proliferation (GO:0050798)2.69780580
46indole-containing compound metabolic process (GO:0042430)2.68790657
47histone mRNA catabolic process (GO:0071044)2.67356169
48regulation of MHC class I biosynthetic process (GO:0045343)2.66565632
49DNA integration (GO:0015074)2.66013971
50L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.65209072
51histone H3-K4 trimethylation (GO:0080182)2.64010553
52histone H2A acetylation (GO:0043968)2.62806147
53GPI anchor metabolic process (GO:0006505)2.61404367
54adaptation of signaling pathway (GO:0023058)2.60487191
55retrograde transport, vesicle recycling within Golgi (GO:0000301)2.59685952
56DNA demethylation (GO:0080111)2.59348456
57regulation of regulatory T cell differentiation (GO:0045589)2.59295350
58interferon-gamma production (GO:0032609)2.59068683
59gamma-aminobutyric acid transport (GO:0015812)2.57176171
60histone H3-K9 methylation (GO:0051567)2.56961364
61epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.53386980
62rRNA catabolic process (GO:0016075)2.53373183
63reflex (GO:0060004)2.52226917
64DNA methylation involved in gamete generation (GO:0043046)2.50729974
65seminiferous tubule development (GO:0072520)2.48618638
66tachykinin receptor signaling pathway (GO:0007217)2.45368738
67iron-sulfur cluster assembly (GO:0016226)2.44916793
68metallo-sulfur cluster assembly (GO:0031163)2.44916793
69recombinational repair (GO:0000725)2.43929838
70regulation of gamma-delta T cell differentiation (GO:0045586)2.42443395
71double-strand break repair via homologous recombination (GO:0000724)2.41837591
72protein localization to Golgi apparatus (GO:0034067)2.39954084
73epithelial cilium movement (GO:0003351)2.38456452
74protein K48-linked deubiquitination (GO:0071108)2.37988786
75negative regulation of mast cell activation (GO:0033004)2.37531661
76tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.37168651
77RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.37168651
78regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.37131689
79positive regulation of T cell differentiation in thymus (GO:0033089)2.36984029
80regulation of germinal center formation (GO:0002634)2.35550794
81protein complex biogenesis (GO:0070271)2.34821134
82cellular ketone body metabolic process (GO:0046950)2.34503827
83purinergic nucleotide receptor signaling pathway (GO:0035590)2.34069349
84regulation of defense response to virus by host (GO:0050691)2.33715938
85cilium morphogenesis (GO:0060271)2.33633577
86regulation of cilium movement (GO:0003352)2.31450284
87GPI anchor biosynthetic process (GO:0006506)2.31302611
88branched-chain amino acid catabolic process (GO:0009083)2.29011593
89positive regulation of oligodendrocyte differentiation (GO:0048714)2.28862402
90aromatic amino acid family catabolic process (GO:0009074)2.28056477
91NAD biosynthetic process (GO:0009435)2.27377868
92RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.26771746
93reciprocal DNA recombination (GO:0035825)2.26473540
94reciprocal meiotic recombination (GO:0007131)2.26473540
95base-excision repair, AP site formation (GO:0006285)2.26209678
96cellular response to ethanol (GO:0071361)2.25010801
97cilium organization (GO:0044782)2.24459483
98DNA dealkylation (GO:0035510)2.24384605
99protein K63-linked deubiquitination (GO:0070536)2.23101103
100histone H3-K9 modification (GO:0061647)2.22992148

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.65521510
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.11108288
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.92968361
4IGF1R_20145208_ChIP-Seq_DFB_Human2.86972718
5VDR_22108803_ChIP-Seq_LS180_Human2.79447927
6GBX2_23144817_ChIP-Seq_PC3_Human2.74925029
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.55840595
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.44544019
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.40818979
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.40633684
11CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.34139201
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.22918097
13NOTCH1_21737748_ChIP-Seq_TLL_Human2.07980541
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.02557017
15HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.97701526
16TAF15_26573619_Chip-Seq_HEK293_Human1.93439406
17* ER_23166858_ChIP-Seq_MCF-7_Human1.90139441
18PCGF2_27294783_Chip-Seq_ESCs_Mouse1.89238167
19SALL1_21062744_ChIP-ChIP_HESCs_Human1.83132975
20CTBP2_25329375_ChIP-Seq_LNCAP_Human1.75648423
21* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.66608709
22IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.63774241
23IRF8_21731497_ChIP-ChIP_J774_Mouse1.59585514
24CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.59528466
25EWS_26573619_Chip-Seq_HEK293_Human1.59178918
26P300_19829295_ChIP-Seq_ESCs_Human1.58472144
27* GATA3_26560356_Chip-Seq_TH2_Human1.57547428
28EZH2_22144423_ChIP-Seq_EOC_Human1.57390311
29IRF1_19129219_ChIP-ChIP_H3396_Human1.55445303
30VDR_23849224_ChIP-Seq_CD4+_Human1.54882947
31CBP_20019798_ChIP-Seq_JUKART_Human1.54007541
32IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.54007541
33AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.53349016
34FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.53319286
35PCGF2_27294783_Chip-Seq_NPCs_Mouse1.53218067
36STAT3_23295773_ChIP-Seq_U87_Human1.50816022
37FUS_26573619_Chip-Seq_HEK293_Human1.49766137
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49600933
39MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.45715608
40EST1_17652178_ChIP-ChIP_JURKAT_Human1.42145801
41IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.41427507
42TP53_22573176_ChIP-Seq_HFKS_Human1.41402783
43ELF1_17652178_ChIP-ChIP_JURKAT_Human1.39909355
44EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.37305174
45RUNX_20019798_ChIP-Seq_JUKART_Human1.35657371
46TCF4_23295773_ChIP-Seq_U87_Human1.34910781
47NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.34180839
48UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.32938643
49SUZ12_27294783_Chip-Seq_NPCs_Mouse1.32860450
50BCAT_22108803_ChIP-Seq_LS180_Human1.32702667
51MYB_26560356_Chip-Seq_TH2_Human1.32212629
52POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.26689660
53TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26689660
54NFE2_27457419_Chip-Seq_LIVER_Mouse1.25654449
55LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.25338953
56GATA3_27048872_Chip-Seq_THYMUS_Human1.23336978
57AR_21572438_ChIP-Seq_LNCaP_Human1.23096712
58BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.22691539
59MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.22463729
60EZH2_27294783_Chip-Seq_NPCs_Mouse1.21373271
61SMAD4_21799915_ChIP-Seq_A2780_Human1.20838213
62GABP_17652178_ChIP-ChIP_JURKAT_Human1.20827799
63EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.20476407
64MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.17951335
65SRF_21415370_ChIP-Seq_HL-1_Mouse1.17763758
66FOXA1_27270436_Chip-Seq_PROSTATE_Human1.17686331
67FOXA1_25329375_ChIP-Seq_VCAP_Human1.17686331
68SMAD_19615063_ChIP-ChIP_OVARY_Human1.17169463
69MYC_18940864_ChIP-ChIP_HL60_Human1.16708651
70FOXA1_21572438_ChIP-Seq_LNCaP_Human1.15059322
71CIITA_25753668_ChIP-Seq_RAJI_Human1.14995639
72AR_25329375_ChIP-Seq_VCAP_Human1.13271308
73PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.12095478
74FOXP3_21729870_ChIP-Seq_TREG_Human1.11995445
75PRDM14_20953172_ChIP-Seq_ESCs_Human1.11952597
76CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.10562435
77PIAS1_25552417_ChIP-Seq_VCAP_Human1.09126766
78ELK1_19687146_ChIP-ChIP_HELA_Human1.08963573
79NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08788031
80AR_20517297_ChIP-Seq_VCAP_Human1.06182929
81TCF4_22108803_ChIP-Seq_LS180_Human1.05032080
82PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.04289720
83PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02312183
84RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02253836
85CRX_20693478_ChIP-Seq_RETINA_Mouse1.02117553
86ETV2_25802403_ChIP-Seq_MESCs_Mouse1.01925122
87RUNX2_22187159_ChIP-Seq_PCA_Human1.01119973
88KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00212949
89FLI1_21867929_ChIP-Seq_TH2_Mouse0.99161390
90* GATA3_21878914_ChIP-Seq_MCF-7_Human0.98923448
91TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.98294591
92NCOR_22424771_ChIP-Seq_293T_Human0.97726680
93EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97566165
94RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.95777583
95SCL_19346495_ChIP-Seq_HPC-7_Human0.95754954
96SOX2_19829295_ChIP-Seq_ESCs_Human0.95299111
97NANOG_19829295_ChIP-Seq_ESCs_Human0.95299111
98GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.95233622
99SMRT_27268052_Chip-Seq_Bcells_Human0.94898183
100GATA3_26560356_Chip-Seq_TH1_Human0.94896121

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation3.62149308
2MP0005671_abnormal_response_to2.72033893
3MP0008877_abnormal_DNA_methylation2.36918994
4MP0001986_abnormal_taste_sensitivity2.26938489
5MP0006072_abnormal_retinal_apoptosis2.23396556
6MP0005645_abnormal_hypothalamus_physiol2.16823123
7MP0001835_abnormal_antigen_presentation2.12693635
8MP0002653_abnormal_ependyma_morphology2.12037071
9MP0005551_abnormal_eye_electrophysiolog2.08041703
10MP0005075_abnormal_melanosome_morpholog1.99890229
11MP0008057_abnormal_DNA_replication1.95608231
12MP0001968_abnormal_touch/_nociception1.94808957
13MP0004147_increased_porphyrin_level1.92813387
14MP0001501_abnormal_sleep_pattern1.87311932
15MP0003136_yellow_coat_color1.84999612
16MP0003646_muscle_fatigue1.84631436
17MP0003787_abnormal_imprinting1.84592493
18MP0001800_abnormal_humoral_immune1.83957755
19MP0008058_abnormal_DNA_repair1.81606024
20MP0002736_abnormal_nociception_after1.78600572
21MP0005253_abnormal_eye_physiology1.78105443
22MP0003195_calcinosis1.77994997
23MP0000372_irregular_coat_pigmentation1.75119254
24MP0002638_abnormal_pupillary_reflex1.72957635
25MP0004043_abnormal_pH_regulation1.72269318
26MP0005174_abnormal_tail_pigmentation1.71061419
27MP0002102_abnormal_ear_morphology1.61072536
28MP0003724_increased_susceptibility_to1.61047628
29MP0008995_early_reproductive_senescence1.59342128
30MP0003880_abnormal_central_pattern1.57835555
31MP0003763_abnormal_thymus_physiology1.52755693
32MP0002095_abnormal_skin_pigmentation1.47761637
33MP0002723_abnormal_immune_serum1.47209264
34MP0008872_abnormal_physiological_respon1.39251948
35MP0002420_abnormal_adaptive_immunity1.31976988
36MP0002452_abnormal_antigen_presenting1.31696840
37MP0004142_abnormal_muscle_tone1.31510324
38MP0001819_abnormal_immune_cell1.30068836
39MP0005000_abnormal_immune_tolerance1.28212830
40MP0000427_abnormal_hair_cycle1.26803653
41MP0005646_abnormal_pituitary_gland1.24131693
42MP0009046_muscle_twitch1.22353025
43MP0003866_abnormal_defecation1.22121812
44MP0003045_fibrosis1.20652207
45MP0005310_abnormal_salivary_gland1.20286737
46MP0002928_abnormal_bile_duct1.19943412
47MP0000015_abnormal_ear_pigmentation1.13421108
48MP0006292_abnormal_olfactory_placode1.13176534
49MP0000689_abnormal_spleen_morphology1.12376846
50MP0002837_dystrophic_cardiac_calcinosis1.11796501
51MP0009785_altered_susceptibility_to1.11717200
52MP0009745_abnormal_behavioral_response1.10961523
53MP0002148_abnormal_hypersensitivity_rea1.10950686
54MP0005266_abnormal_metabolism1.08702792
55MP0000685_abnormal_immune_system1.06589146
56MP0009764_decreased_sensitivity_to1.06514010
57MP0001984_abnormal_olfaction1.06396902
58MP0000716_abnormal_immune_system1.05264729
59MP0002398_abnormal_bone_marrow1.05132551
60MP0005387_immune_system_phenotype1.04846424
61MP0001790_abnormal_immune_system1.04846424
62MP0001486_abnormal_startle_reflex1.04804686
63MP0003786_premature_aging1.03459289
64MP0002876_abnormal_thyroid_physiology1.03019515
65MP0005025_abnormal_response_to1.02003914
66MP0003252_abnormal_bile_duct0.98297050
67MP0002419_abnormal_innate_immunity0.98147639
68MP0002405_respiratory_system_inflammati0.96699110
69MP0000465_gastrointestinal_hemorrhage0.94785063
70MP0002735_abnormal_chemical_nociception0.93988141
71MP0001873_stomach_inflammation0.93824977
72MP0000371_diluted_coat_color0.91972085
73MP0001764_abnormal_homeostasis0.90407408
74MP0002332_abnormal_exercise_endurance0.89184094
75MP0004381_abnormal_hair_follicle0.87695971
76MP0002722_abnormal_immune_system0.86514251
77MP0000703_abnormal_thymus_morphology0.85709791
78MP0001485_abnormal_pinna_reflex0.84773777
79MP0005367_renal/urinary_system_phenotyp0.83897657
80MP0000516_abnormal_urinary_system0.83897657
81MP0003878_abnormal_ear_physiology0.83125691
82MP0005377_hearing/vestibular/ear_phenot0.83125691
83MP0002938_white_spotting0.82331595
84MP0002272_abnormal_nervous_system0.82128630
85MP0002396_abnormal_hematopoietic_system0.81957721
86MP0002138_abnormal_hepatobiliary_system0.81546004
87MP0002572_abnormal_emotion/affect_behav0.79264037
88MP0005171_absent_coat_pigmentation0.78354634
89MP0002067_abnormal_sensory_capabilities0.77875818
90MP0005386_behavior/neurological_phenoty0.77642363
91MP0004924_abnormal_behavior0.77642363
92MP0003950_abnormal_plasma_membrane0.76870117
93MP0002693_abnormal_pancreas_physiology0.75475755
94MP0002429_abnormal_blood_cell0.75024188
95MP0005423_abnormal_somatic_nervous0.74820832
96MP0005167_abnormal_blood-brain_barrier0.73581992
97MP0003183_abnormal_peptide_metabolism0.73563594
98MP0006276_abnormal_autonomic_nervous0.73476467
99MP0000631_abnormal_neuroendocrine_gland0.72612474
100MP0003656_abnormal_erythrocyte_physiolo0.72579094

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.15253719
2True hermaphroditism (HP:0010459)3.68521225
3Pancreatic fibrosis (HP:0100732)3.61622995
4Hyperventilation (HP:0002883)3.50642522
5Molar tooth sign on MRI (HP:0002419)3.24976770
6Abnormality of midbrain morphology (HP:0002418)3.24976770
7Chronic hepatic failure (HP:0100626)3.19853139
8Nephronophthisis (HP:0000090)3.18642277
9Congenital stationary night blindness (HP:0007642)3.14779103
10Abnormality of the renal cortex (HP:0011035)3.08701198
11Type II lissencephaly (HP:0007260)3.04292781
12Medial flaring of the eyebrow (HP:0010747)2.96191362
13Stomach cancer (HP:0012126)2.92320263
14Genetic anticipation (HP:0003743)2.91876278
15Abnormality of the renal medulla (HP:0100957)2.90972269
16Severe combined immunodeficiency (HP:0004430)2.85888045
17Attenuation of retinal blood vessels (HP:0007843)2.81492640
18Progressive cerebellar ataxia (HP:0002073)2.78375036
19Panhypogammaglobulinemia (HP:0003139)2.76957765
20IgG deficiency (HP:0004315)2.76705504
21Thyroiditis (HP:0100646)2.73310753
22Gaze-evoked nystagmus (HP:0000640)2.62684249
23Absent speech (HP:0001344)2.60431756
24Renal cortical cysts (HP:0000803)2.56515562
25Aplasia/Hypoplasia of the tibia (HP:0005772)2.56415073
26Cystic liver disease (HP:0006706)2.55925649
27Elevated erythrocyte sedimentation rate (HP:0003565)2.45515710
28Congenital primary aphakia (HP:0007707)2.39935939
29Lissencephaly (HP:0001339)2.38354304
30Congenital hepatic fibrosis (HP:0002612)2.36366693
31Abnormal delayed hypersensitivity skin test (HP:0002963)2.36048826
32Abnormality of eosinophils (HP:0001879)2.35568133
33Abolished electroretinogram (ERG) (HP:0000550)2.35166242
34Abnormal drinking behavior (HP:0030082)2.32910322
35Polydipsia (HP:0001959)2.32910322
36Abnormal protein glycosylation (HP:0012346)2.31785426
37Abnormal glycosylation (HP:0012345)2.31785426
38Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.31785426
39Abnormal protein N-linked glycosylation (HP:0012347)2.31785426
40Progressive inability to walk (HP:0002505)2.31767534
41Gait imbalance (HP:0002141)2.31000682
42Recurrent fungal infections (HP:0002841)2.30443051
43Abnormality of B cell number (HP:0010975)2.30387299
44Nephrogenic diabetes insipidus (HP:0009806)2.27656758
45Chronic mucocutaneous candidiasis (HP:0002728)2.25209827
46Recurrent cutaneous fungal infections (HP:0011370)2.25209827
47Cerebellar dysplasia (HP:0007033)2.23967837
48Decreased electroretinogram (ERG) amplitude (HP:0000654)2.19598689
49Inability to walk (HP:0002540)2.17772040
50Stomatitis (HP:0010280)2.13423826
51Agammaglobulinemia (HP:0004432)2.07613534
52Tubulointerstitial nephritis (HP:0001970)2.06832574
53Broad-based gait (HP:0002136)2.05497164
54Bile duct proliferation (HP:0001408)2.04914480
55Abnormal biliary tract physiology (HP:0012439)2.04914480
56Anencephaly (HP:0002323)2.03852351
573-Methylglutaconic aciduria (HP:0003535)2.02336361
58Eosinophilia (HP:0001880)2.02326400
59Myositis (HP:0100614)2.02296194
60Protruding tongue (HP:0010808)2.02185096
61Thyroid-stimulating hormone excess (HP:0002925)2.01683636
62Type I transferrin isoform profile (HP:0003642)1.99935138
63Abnormality of T cells (HP:0002843)1.99372235
64Abnormality of T cell number (HP:0011839)1.96498904
65Ketoacidosis (HP:0001993)1.93539278
66Combined immunodeficiency (HP:0005387)1.92655492
67Chronic diarrhea (HP:0002028)1.91785982
68Albinism (HP:0001022)1.90721675
69Clumsiness (HP:0002312)1.90462765
70Bony spicule pigmentary retinopathy (HP:0007737)1.88817005
71Retinal dysplasia (HP:0007973)1.88356939
72Progressive microcephaly (HP:0000253)1.88350515
73Abnormality of the prostate (HP:0008775)1.87928076
74Tented upper lip vermilion (HP:0010804)1.86426653
75Encephalitis (HP:0002383)1.86386510
76Abnormality of alanine metabolism (HP:0010916)1.85546979
77Hyperalaninemia (HP:0003348)1.85546979
78Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.85546979
79Focal motor seizures (HP:0011153)1.85522197
80Intestinal atresia (HP:0011100)1.84432939
81Optic neuritis (HP:0100653)1.82528814
82Retrobulbar optic neuritis (HP:0100654)1.82528814
83Postaxial foot polydactyly (HP:0001830)1.82454814
84Aplasia/Hypoplasia of the tongue (HP:0010295)1.82211555
85Methylmalonic aciduria (HP:0012120)1.81949123
86T lymphocytopenia (HP:0005403)1.81791227
87Tubular atrophy (HP:0000092)1.80814690
88IgM deficiency (HP:0002850)1.80690436
89Widely spaced teeth (HP:0000687)1.80429228
90Hepatocellular necrosis (HP:0001404)1.79086141
91Occipital encephalocele (HP:0002085)1.78388555
92Increased neuronal autofluorescent lipopigment (HP:0002074)1.77998974
93Abnormality of T cell physiology (HP:0011840)1.77038857
94Astigmatism (HP:0000483)1.76776336
95Short tibia (HP:0005736)1.76291027
96Pendular nystagmus (HP:0012043)1.76278499
97Constricted visual fields (HP:0001133)1.75495677
98Hypothermia (HP:0002045)1.75341320
99Dialeptic seizures (HP:0011146)1.75036601
100Sclerocornea (HP:0000647)1.74548977

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.15391923
2TAOK33.93357715
3TXK2.90555678
4MAP4K22.69983783
5ACVR1B2.35862077
6BMPR1B2.15205786
7INSRR2.10258353
8EPHA32.03364229
9MAP4K11.98591038
10NUAK11.97002814
11ADRBK21.96071322
12MAPK131.90329064
13WNK31.82278998
14CAMKK21.82235445
15ZAK1.62483483
16TEC1.57521460
17BCKDK1.49272186
18MAP3K41.46826281
19MAPK151.39772924
20GRK61.32965725
21TNK21.29953342
22KIT1.24189931
23FLT31.22454068
24ITK1.21736722
25TRIM281.19786551
26SIK21.18087228
27GRK11.17240908
28IKBKB1.09851519
29SYK1.08925627
30PINK11.08203536
31BRD41.07696563
32BTK1.03865233
33MAP2K61.01293785
34PAK30.98652921
35PIK3CG0.97003013
36FES0.96601170
37IRAK10.94925085
38CSF1R0.92005555
39NLK0.91860262
40ERBB30.90690366
41MAPKAPK30.89845631
42LCK0.87309735
43BCR0.85558503
44IKBKE0.84717498
45CSNK1A1L0.81264202
46OXSR10.81056698
47LYN0.80171471
48CCNB10.80038463
49ADRBK10.77908254
50PTK2B0.77011232
51AKT30.72250435
52TLK10.72131893
53MAP2K70.71346736
54MAP3K70.70607705
55MAP3K140.69615237
56BLK0.68400568
57PRKCE0.68095847
58HCK0.67997473
59VRK10.65650351
60MARK30.65527525
61PRKCQ0.64406421
62JAK10.64354151
63TBK10.63639017
64CSNK1G10.62509901
65GRK70.62214671
66STK38L0.61934537
67CSNK1G30.61757362
68DAPK20.61713340
69CHUK0.60874402
70RPS6KA40.60819358
71PIM10.60250442
72PIK3CA0.59613211
73NTRK20.58468500
74IRAK40.54452778
75CDK30.54413265
76CAMK10.53858113
77MAPK110.53667094
78SGK20.51743576
79BMPR20.51415913
80CAMK40.50660107
81CAMK1D0.50521640
82JAK30.48801694
83ATR0.48692733
84MKNK20.48530160
85RPS6KA50.48023597
86TYK20.45981871
87ABL10.45709941
88CSNK1G20.43045376
89PRKAA20.42954318
90STK380.42209903
91SRPK10.41820009
92NME10.40729859
93OBSCN0.39476496
94DYRK20.39367780
95PKN10.38887149
96EPHB10.38880862
97SIK30.38783917
98CSNK1A10.38540254
99MAP2K20.38539289
100IGF1R0.37748622

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.16660535
2Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.83519885
3Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.79214029
4Intestinal immune network for IgA production_Homo sapiens_hsa046722.73431719
5Homologous recombination_Homo sapiens_hsa034402.33760021
6Phototransduction_Homo sapiens_hsa047442.31847006
7Fanconi anemia pathway_Homo sapiens_hsa034602.28716957
8Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.28564758
9Graft-versus-host disease_Homo sapiens_hsa053322.25370531
10Asthma_Homo sapiens_hsa053102.25082703
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.21245366
12Allograft rejection_Homo sapiens_hsa053302.14051986
13Butanoate metabolism_Homo sapiens_hsa006502.07296457
14alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.04232180
15Autoimmune thyroid disease_Homo sapiens_hsa053202.00953792
16Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.94959609
17Type I diabetes mellitus_Homo sapiens_hsa049401.89285861
18Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.84509533
19Linoleic acid metabolism_Homo sapiens_hsa005911.80915235
20Nitrogen metabolism_Homo sapiens_hsa009101.78597548
21* RNA polymerase_Homo sapiens_hsa030201.78266184
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.77005938
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.61446952
24Tryptophan metabolism_Homo sapiens_hsa003801.59440192
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.58352819
26Caffeine metabolism_Homo sapiens_hsa002321.55796599
27Ether lipid metabolism_Homo sapiens_hsa005651.46080439
28ABC transporters_Homo sapiens_hsa020101.39411730
29Peroxisome_Homo sapiens_hsa041461.35912335
30Regulation of autophagy_Homo sapiens_hsa041401.32789483
31Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.29632193
32Antigen processing and presentation_Homo sapiens_hsa046121.27216666
33Taste transduction_Homo sapiens_hsa047421.22444513
34Nicotine addiction_Homo sapiens_hsa050331.18803348
35Non-homologous end-joining_Homo sapiens_hsa034501.16811631
36Primary bile acid biosynthesis_Homo sapiens_hsa001201.13052212
37Base excision repair_Homo sapiens_hsa034101.12997443
38RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.11032089
39Propanoate metabolism_Homo sapiens_hsa006401.06366394
40Olfactory transduction_Homo sapiens_hsa047401.00028713
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97170980
42Rheumatoid arthritis_Homo sapiens_hsa053230.96676051
43RNA degradation_Homo sapiens_hsa030180.92759606
44Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.90760589
45Basal transcription factors_Homo sapiens_hsa030220.90702731
46NOD-like receptor signaling pathway_Homo sapiens_hsa046210.89990191
47Hematopoietic cell lineage_Homo sapiens_hsa046400.89166096
48Protein export_Homo sapiens_hsa030600.88932863
49Lysine degradation_Homo sapiens_hsa003100.85778713
50Morphine addiction_Homo sapiens_hsa050320.83968134
51NF-kappa B signaling pathway_Homo sapiens_hsa040640.83539579
52Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.82765782
53Leishmaniasis_Homo sapiens_hsa051400.82210774
54Arachidonic acid metabolism_Homo sapiens_hsa005900.79658137
55Sulfur relay system_Homo sapiens_hsa041220.77201705
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.76263504
57Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.72575055
58Jak-STAT signaling pathway_Homo sapiens_hsa046300.72359135
59Collecting duct acid secretion_Homo sapiens_hsa049660.72066729
60Dorso-ventral axis formation_Homo sapiens_hsa043200.71622716
61Staphylococcus aureus infection_Homo sapiens_hsa051500.69077558
62Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.68837217
63Salivary secretion_Homo sapiens_hsa049700.68757261
64T cell receptor signaling pathway_Homo sapiens_hsa046600.68466301
65Glycerolipid metabolism_Homo sapiens_hsa005610.67764376
66One carbon pool by folate_Homo sapiens_hsa006700.67598543
67Maturity onset diabetes of the young_Homo sapiens_hsa049500.66430771
68Steroid hormone biosynthesis_Homo sapiens_hsa001400.64780642
69Herpes simplex infection_Homo sapiens_hsa051680.63504788
70* Purine metabolism_Homo sapiens_hsa002300.63457634
71Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.62276698
72Chemical carcinogenesis_Homo sapiens_hsa052040.60665981
73Selenocompound metabolism_Homo sapiens_hsa004500.60172075
74Glutamatergic synapse_Homo sapiens_hsa047240.59334363
75Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.57482044
76GABAergic synapse_Homo sapiens_hsa047270.56588092
77Calcium signaling pathway_Homo sapiens_hsa040200.56308960
78Circadian entrainment_Homo sapiens_hsa047130.55562579
79Serotonergic synapse_Homo sapiens_hsa047260.51235867
80Glycerophospholipid metabolism_Homo sapiens_hsa005640.49614736
81Viral myocarditis_Homo sapiens_hsa054160.48877753
82* Pyrimidine metabolism_Homo sapiens_hsa002400.47342870
83Measles_Homo sapiens_hsa051620.46346892
84Circadian rhythm_Homo sapiens_hsa047100.45695319
85African trypanosomiasis_Homo sapiens_hsa051430.45626419
86Tuberculosis_Homo sapiens_hsa051520.43984541
87Retinol metabolism_Homo sapiens_hsa008300.38720258
88Oxidative phosphorylation_Homo sapiens_hsa001900.38430134
89Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.37047833
90Osteoclast differentiation_Homo sapiens_hsa043800.36571639
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36010395
92* Metabolic pathways_Homo sapiens_hsa011000.35609013
93Glycosaminoglycan degradation_Homo sapiens_hsa005310.35236978
94Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.31184485
95Transcriptional misregulation in cancer_Homo sapiens_hsa052020.29646421
96Legionellosis_Homo sapiens_hsa051340.29183858
97TNF signaling pathway_Homo sapiens_hsa046680.28595875
98Ovarian steroidogenesis_Homo sapiens_hsa049130.28388172
99Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25930171
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.25670419

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