C9ORF78

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)4.57209344
2positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.33157127
3positive regulation of gamma-delta T cell activation (GO:0046645)4.32231081
4mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.89683317
5negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.79123783
6negative regulation of cell killing (GO:0031342)3.79123783
7negative T cell selection (GO:0043383)3.75811790
8cellular response to interleukin-15 (GO:0071350)3.70887172
9regulation of B cell receptor signaling pathway (GO:0050855)3.68807612
10ATP synthesis coupled proton transport (GO:0015986)3.52350545
11energy coupled proton transport, down electrochemical gradient (GO:0015985)3.52350545
12regulation of gamma-delta T cell differentiation (GO:0045586)3.44063059
13negative thymic T cell selection (GO:0045060)3.39091867
14positive regulation of granulocyte differentiation (GO:0030854)3.38500008
15response to interleukin-15 (GO:0070672)3.23816476
16antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.17442530
17organelle membrane fusion (GO:0090174)3.07752203
18proteasome assembly (GO:0043248)3.07734662
19protein complex biogenesis (GO:0070271)3.07002779
20cytidine deamination (GO:0009972)3.03438986
21cytidine metabolic process (GO:0046087)3.03438986
22cytidine catabolic process (GO:0006216)3.03438986
23negative regulation of T cell mediated immunity (GO:0002710)3.02767573
24mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.02041894
25mitochondrial respiratory chain complex I assembly (GO:0032981)3.02041894
26NADH dehydrogenase complex assembly (GO:0010257)3.02041894
27regulation of gamma-delta T cell activation (GO:0046643)3.01301667
28positive regulation of alpha-beta T cell proliferation (GO:0046641)2.97019858
29mast cell activation (GO:0045576)2.96778995
30regulation of activation of Janus kinase activity (GO:0010533)2.93772061
31mitochondrial respiratory chain complex assembly (GO:0033108)2.93507782
32mast cell degranulation (GO:0043303)2.89629847
33mast cell activation involved in immune response (GO:0002279)2.89629847
34positive regulation of T cell mediated cytotoxicity (GO:0001916)2.88165648
35regulation of alpha-beta T cell proliferation (GO:0046640)2.85409466
36response to interferon-beta (GO:0035456)2.83754201
37antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.82975228
38positive T cell selection (GO:0043368)2.81806044
39establishment of protein localization to mitochondrial membrane (GO:0090151)2.81127178
40autophagic vacuole fusion (GO:0000046)2.80124574
41electron transport chain (GO:0022900)2.79840294
42respiratory electron transport chain (GO:0022904)2.79551626
43regulation of T cell mediated cytotoxicity (GO:0001914)2.79250906
44T cell migration (GO:0072678)2.77389844
45mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.77121126
46regulation of regulatory T cell differentiation (GO:0045589)2.76564801
47regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.76182213
48rRNA modification (GO:0000154)2.75059466
49interferon-gamma production (GO:0032609)2.74976892
50nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.72781075
51DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.72177945
52tolerance induction (GO:0002507)2.70482905
53tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.69800646
54RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.69800646
55exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.69797503
56activated T cell proliferation (GO:0050798)2.69796164
57positive regulation of B cell differentiation (GO:0045579)2.68288981
58deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.67949335
59antigen processing and presentation of endogenous antigen (GO:0019883)2.67699667
60oxygen transport (GO:0015671)2.65965974
61pyrimidine ribonucleoside catabolic process (GO:0046133)2.65163164
62signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.64049498
63signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.64049498
64signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.64049498
65regulation of cellular amino acid metabolic process (GO:0006521)2.63746400
66antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.62699995
67regulation of T cell receptor signaling pathway (GO:0050856)2.62459291
68leukocyte degranulation (GO:0043299)2.62347092
69signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.61571449
70intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.61571449
71termination of RNA polymerase III transcription (GO:0006386)2.61398532
72transcription elongation from RNA polymerase III promoter (GO:0006385)2.61398532
73negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.59460689
74cellular response to interferon-beta (GO:0035458)2.57329474
75antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.57306475
76protein-cofactor linkage (GO:0018065)2.56853408
77leukocyte aggregation (GO:0070486)2.54391887
78regulation of B cell differentiation (GO:0045577)2.53754285
79regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.52982852
80positive thymic T cell selection (GO:0045059)2.52517784
81signal transduction involved in DNA damage checkpoint (GO:0072422)2.51802645
82signal transduction involved in DNA integrity checkpoint (GO:0072401)2.51802645
83positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.51240647
84negative regulation of lymphocyte mediated immunity (GO:0002707)2.50016755
85pseudouridine synthesis (GO:0001522)2.49949874
86regulation of isotype switching to IgG isotypes (GO:0048302)2.48344982
87signal transduction involved in cell cycle checkpoint (GO:0072395)2.48301148
88purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.47336979
89protein neddylation (GO:0045116)2.46251970
90negative regulation of execution phase of apoptosis (GO:1900118)2.46250435
91cytochrome complex assembly (GO:0017004)2.46130651
92protoporphyrinogen IX metabolic process (GO:0046501)2.46065469
93respiratory chain complex IV assembly (GO:0008535)2.45355992
94maturation of 5.8S rRNA (GO:0000460)2.45299111
95metallo-sulfur cluster assembly (GO:0031163)2.44955661
96iron-sulfur cluster assembly (GO:0016226)2.44955661
97ribosomal small subunit assembly (GO:0000028)2.43867896
98viral transcription (GO:0019083)2.41786343
99antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.41457287
100positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.40691742

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GABP_17652178_ChIP-ChIP_JURKAT_Human3.95048793
2ELF1_17652178_ChIP-ChIP_JURKAT_Human3.86992239
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.82416684
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.76349706
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.11320393
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.01864919
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.99616609
8VDR_23849224_ChIP-Seq_CD4+_Human2.96688543
9ETS1_20019798_ChIP-Seq_JURKAT_Human2.84425523
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.81846877
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.63019330
12HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.60403712
13E2F7_22180533_ChIP-Seq_HELA_Human2.59676465
14STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.55770874
15FOXP3_21729870_ChIP-Seq_TREG_Human2.54879936
16IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.32131210
17SRF_21415370_ChIP-Seq_HL-1_Mouse2.27802625
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.26371805
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.24244005
20IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.22033473
21ELK1_19687146_ChIP-ChIP_HELA_Human2.13943994
22NOTCH1_21737748_ChIP-Seq_TLL_Human2.11728023
23SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.10578674
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.07101739
25MYB_26560356_Chip-Seq_TH2_Human2.04553476
26SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.02461135
27PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.99571899
28HOXB4_20404135_ChIP-ChIP_EML_Mouse1.94522321
29FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.89748064
30IRF8_21731497_ChIP-ChIP_J774_Mouse1.88978642
31HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.88702166
32EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.82889360
33E2F4_17652178_ChIP-ChIP_JURKAT_Human1.80157024
34CIITA_25753668_ChIP-Seq_RAJI_Human1.78147340
35SPI1_23547873_ChIP-Seq_NB4_Human1.74510129
36CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.69413617
37RUNX_20019798_ChIP-Seq_JUKART_Human1.67613104
38ZNF274_21170338_ChIP-Seq_K562_Hela1.66536003
39GATA3_26560356_Chip-Seq_TH2_Human1.63339038
40FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.63096017
41PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61277563
42MYC_18358816_ChIP-ChIP_MESCs_Mouse1.60913673
43FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.59785588
44SCL_19346495_ChIP-Seq_HPC-7_Human1.59231754
45YY1_21170310_ChIP-Seq_MESCs_Mouse1.57959990
46MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.55899023
47RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.55007387
48* GABP_19822575_ChIP-Seq_HepG2_Human1.52682347
49GATA3_27048872_Chip-Seq_THYMUS_Human1.51000423
50MYB_26560356_Chip-Seq_TH1_Human1.50792804
51STAT4_19710469_ChIP-ChIP_TH1__Mouse1.48613377
52MYC_18555785_ChIP-Seq_MESCs_Mouse1.47668061
53TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.47387504
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.47276473
55THAP11_20581084_ChIP-Seq_MESCs_Mouse1.46356714
56LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.40728500
57DCP1A_22483619_ChIP-Seq_HELA_Human1.37763178
58* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.34300959
59VDR_22108803_ChIP-Seq_LS180_Human1.33473110
60KDM5A_27292631_Chip-Seq_BREAST_Human1.31886046
61BP1_19119308_ChIP-ChIP_Hs578T_Human1.31741866
62BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.31426338
63MYC_18940864_ChIP-ChIP_HL60_Human1.29339805
64SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.29258661
65PADI4_21655091_ChIP-ChIP_MCF-7_Human1.24304267
66CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.24188120
67TP53_22573176_ChIP-Seq_HFKS_Human1.23886729
68XRN2_22483619_ChIP-Seq_HELA_Human1.22636818
69MYC_19030024_ChIP-ChIP_MESCs_Mouse1.21412577
70TTF2_22483619_ChIP-Seq_HELA_Human1.19340350
71MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.19177739
72UTX_26944678_Chip-Seq_JUKART_Human1.18911451
73HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.11832473
74MAF_26560356_Chip-Seq_TH1_Human1.07488660
75YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.07062219
76LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.06664405
77ERG_20887958_ChIP-Seq_HPC-7_Mouse1.06381202
78GATA1_22025678_ChIP-Seq_K562_Human1.05068623
79STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.02925040
80IRF1_19129219_ChIP-ChIP_H3396_Human1.02071388
81FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.01005750
82CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.00851302
83MAF_26560356_Chip-Seq_TH2_Human0.98447150
84EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.95505926
85E2F1_18555785_ChIP-Seq_MESCs_Mouse0.95313492
86FOXA1_25329375_ChIP-Seq_VCAP_Human0.94582299
87FOXA1_27270436_Chip-Seq_PROSTATE_Human0.94582299
88GATA3_26560356_Chip-Seq_TH1_Human0.94498290
89ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.94026670
90FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.94019418
91ELK1_22589737_ChIP-Seq_MCF10A_Human0.93193602
92FLI1_27457419_Chip-Seq_LIVER_Mouse0.90277787
93GATA1_19941826_ChIP-Seq_K562_Human0.89343479
94ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.89249474
95NELFA_20434984_ChIP-Seq_ESCs_Mouse0.88726721
96GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.87643272
97TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.86927317
98RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.84246601
99EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.83691703
100GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.83568991

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005671_abnormal_response_to3.55058124
2MP0003763_abnormal_thymus_physiology2.89859615
3MP0001835_abnormal_antigen_presentation2.77843826
4MP0004147_increased_porphyrin_level2.57653216
5MP0008877_abnormal_DNA_methylation2.51374413
6MP0001800_abnormal_humoral_immune2.31542279
7MP0005075_abnormal_melanosome_morpholog2.31099757
8MP0008058_abnormal_DNA_repair2.23475896
9MP0003724_increased_susceptibility_to2.16792466
10MP0005000_abnormal_immune_tolerance2.08116821
11MP0009785_altered_susceptibility_to2.06572724
12MP0002420_abnormal_adaptive_immunity2.06159396
13MP0009333_abnormal_splenocyte_physiolog2.03091756
14MP0001819_abnormal_immune_cell2.03064489
15MP0002723_abnormal_immune_serum2.02146187
16MP0002398_abnormal_bone_marrow1.95226659
17MP0003806_abnormal_nucleotide_metabolis1.92460029
18MP0003656_abnormal_erythrocyte_physiolo1.86998732
19MP0003786_premature_aging1.85755320
20MP0000685_abnormal_immune_system1.84563748
21MP0003436_decreased_susceptibility_to1.83904226
22MP0002452_abnormal_antigen_presenting1.83043774
23MP0000689_abnormal_spleen_morphology1.81994600
24MP0002148_abnormal_hypersensitivity_rea1.79335876
25MP0000703_abnormal_thymus_morphology1.77676298
26MP0005025_abnormal_response_to1.76282101
27MP0002132_abnormal_respiratory_system1.73889543
28MP0006036_abnormal_mitochondrial_physio1.73675253
29MP0003787_abnormal_imprinting1.70343647
30MP0002722_abnormal_immune_system1.69208873
31MP0000716_abnormal_immune_system1.67032080
32MP0005387_immune_system_phenotype1.66728390
33MP0001790_abnormal_immune_system1.66728390
34MP0003866_abnormal_defecation1.63712838
35MP0008995_early_reproductive_senescence1.58666483
36MP0003186_abnormal_redox_activity1.58430856
37MP0002419_abnormal_innate_immunity1.57602100
38MP0003693_abnormal_embryo_hatching1.55459910
39MP0002166_altered_tumor_susceptibility1.54398128
40MP0000569_abnormal_digit_pigmentation1.50226892
41MP0000015_abnormal_ear_pigmentation1.48925339
42MP0008872_abnormal_physiological_respon1.47940142
43MP0005464_abnormal_platelet_physiology1.44953411
44MP0002429_abnormal_blood_cell1.44892579
45MP0006035_abnormal_mitochondrial_morpho1.42358301
46MP0002405_respiratory_system_inflammati1.41432088
47MP0002396_abnormal_hematopoietic_system1.39938688
48MP0002102_abnormal_ear_morphology1.36579491
49MP0001986_abnormal_taste_sensitivity1.36212930
50MP0002277_abnormal_respiratory_mucosa1.35081453
51MP0005083_abnormal_biliary_tract1.34442132
52MP0005174_abnormal_tail_pigmentation1.33469821
53MP0004381_abnormal_hair_follicle1.30706297
54MP0005645_abnormal_hypothalamus_physiol1.30140824
55MP0010094_abnormal_chromosome_stability1.28352126
56MP0002006_tumorigenesis1.27234048
57MP0004142_abnormal_muscle_tone1.26136428
58MP0001845_abnormal_inflammatory_respons1.23166909
59MP0002163_abnormal_gland_morphology1.22737745
60MP0003011_delayed_dark_adaptation1.21590650
61MP0009764_decreased_sensitivity_to1.18214320
62MP0001905_abnormal_dopamine_level1.18078098
63MP0010155_abnormal_intestine_physiology1.13745207
64MP0005310_abnormal_salivary_gland1.10949867
65MP0001873_stomach_inflammation1.10082679
66MP0000372_irregular_coat_pigmentation1.09960368
67MP0002095_abnormal_skin_pigmentation1.09585910
68MP0006082_CNS_inflammation1.06537202
69MP0002019_abnormal_tumor_incidence1.03024591
70MP0001919_abnormal_reproductive_system1.00817265
71MP0008469_abnormal_protein_level1.00099895
72MP0003646_muscle_fatigue0.98274889
73MP0004957_abnormal_blastocyst_morpholog0.98041923
74MP0003111_abnormal_nucleus_morphology0.97712846
75MP0001968_abnormal_touch/_nociception0.97455103
76MP0005636_abnormal_mineral_homeostasis0.95161882
77MP0003718_maternal_effect0.95005567
78MP0005379_endocrine/exocrine_gland_phen0.94861436
79MP0009765_abnormal_xenobiotic_induced0.91704461
80MP0008875_abnormal_xenobiotic_pharmacok0.91259682
81MP0005389_reproductive_system_phenotype0.89884177
82MP0005084_abnormal_gallbladder_morpholo0.89832410
83MP0008057_abnormal_DNA_replication0.87452159
84MP0006072_abnormal_retinal_apoptosis0.85754707
85MP0002138_abnormal_hepatobiliary_system0.84869490
86MP0002876_abnormal_thyroid_physiology0.82094505
87MP0001764_abnormal_homeostasis0.81986537
88MP0001853_heart_inflammation0.81642786
89MP0003195_calcinosis0.80651214
90MP0002638_abnormal_pupillary_reflex0.79839983
91MP0005397_hematopoietic_system_phenotyp0.79182930
92MP0001545_abnormal_hematopoietic_system0.79182930
93MP0003077_abnormal_cell_cycle0.78034262
94MP0009763_increased_sensitivity_to0.77947700
95MP0008873_increased_physiological_sensi0.77635655
96MP0000465_gastrointestinal_hemorrhage0.74424695
97MP0008007_abnormal_cellular_replicative0.73689599
98MP0004145_abnormal_muscle_electrophysio0.73163640
99MP0002736_abnormal_nociception_after0.71451355
100MP0001929_abnormal_gametogenesis0.69353519

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the heme biosynthetic pathway (HP:0010472)3.91738576
2Elevated erythrocyte sedimentation rate (HP:0003565)3.75728356
3Stomatitis (HP:0010280)3.69521004
4Hypochromic microcytic anemia (HP:0004840)3.64645730
5T lymphocytopenia (HP:0005403)3.61493749
63-Methylglutaconic aciduria (HP:0003535)3.56208781
7Abnormality of T cell number (HP:0011839)3.48351185
8Acute necrotizing encephalopathy (HP:0006965)3.42809044
9IgG deficiency (HP:0004315)3.37559874
10Mitochondrial inheritance (HP:0001427)3.30142802
11Abnormality of T cells (HP:0002843)3.22333829
12Severe combined immunodeficiency (HP:0004430)3.20535547
13Abnormal mitochondria in muscle tissue (HP:0008316)3.18470584
14Panhypogammaglobulinemia (HP:0003139)3.18046261
15Abnormal delayed hypersensitivity skin test (HP:0002963)3.14304887
16Increased CSF lactate (HP:0002490)3.04335006
17Acute encephalopathy (HP:0006846)3.04308821
18Progressive macrocephaly (HP:0004481)2.98064049
19Myositis (HP:0100614)2.90675368
20Encephalitis (HP:0002383)2.86582478
21Abnormality of T cell physiology (HP:0011840)2.76525615
22Hepatocellular necrosis (HP:0001404)2.74240906
23Abnormal number of erythroid precursors (HP:0012131)2.67069035
24Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.65667510
25Decreased activity of mitochondrial respiratory chain (HP:0008972)2.65667510
26Optic neuritis (HP:0100653)2.64606261
27Retrobulbar optic neuritis (HP:0100654)2.64606261
28Recurrent fungal infections (HP:0002841)2.64531795
29Increased hepatocellular lipid droplets (HP:0006565)2.60568462
30Lipid accumulation in hepatocytes (HP:0006561)2.57719163
31Microcytic anemia (HP:0001935)2.55094444
32Hepatic necrosis (HP:0002605)2.52996860
33Pancreatic cysts (HP:0001737)2.51186591
34Hypochromic anemia (HP:0001931)2.47072551
35Combined immunodeficiency (HP:0005387)2.46564480
36Increased intramyocellular lipid droplets (HP:0012240)2.46186827
37Abnormality of eosinophils (HP:0001879)2.43896714
38Abnormality of cells of the erythroid lineage (HP:0012130)2.42322146
39Aplastic anemia (HP:0001915)2.40219189
40Recurrent cutaneous fungal infections (HP:0011370)2.37978771
41Chronic mucocutaneous candidiasis (HP:0002728)2.37978771
42Eosinophilia (HP:0001880)2.37921312
43Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.37146751
44Recurrent abscess formation (HP:0002722)2.33544102
45Leukocytosis (HP:0001974)2.30193645
46Granulocytopenia (HP:0001913)2.30163707
47Recurrent bacterial skin infections (HP:0005406)2.29635580
48Orchitis (HP:0100796)2.29172387
49Increased muscle lipid content (HP:0009058)2.23570000
50Abnormality of B cell number (HP:0010975)2.21156083
51Methylmalonic acidemia (HP:0002912)2.20711301
52Recurrent viral infections (HP:0004429)2.20334438
53Pustule (HP:0200039)2.17784928
54Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.17664575
55Lactic acidosis (HP:0003128)2.15889264
56Increased serum lactate (HP:0002151)2.15757164
57Pancytopenia (HP:0001876)2.14092576
58Poikilocytosis (HP:0004447)2.12983036
59Stomach cancer (HP:0012126)2.11264929
60Pallor (HP:0000980)2.11163204
61Congenital stationary night blindness (HP:0007642)2.10294470
62Abnormal hemoglobin (HP:0011902)2.10110055
63Methylmalonic aciduria (HP:0012120)2.08483405
64Autoimmune hemolytic anemia (HP:0001890)2.07630941
65Obstructive lung disease (HP:0006536)2.05038556
66Chronic obstructive pulmonary disease (HP:0006510)2.05038556
67IgM deficiency (HP:0002850)2.04300452
68Increased IgM level (HP:0003496)2.03743643
69Cerebral edema (HP:0002181)2.03494687
70Thyroiditis (HP:0100646)2.02541962
71Abolished electroretinogram (ERG) (HP:0000550)2.02252157
72Renal Fanconi syndrome (HP:0001994)2.01504103
73Exertional dyspnea (HP:0002875)1.96968660
74Paralysis (HP:0003470)1.96503245
75Meningitis (HP:0001287)1.96087316
76Neutropenia (HP:0001875)1.92616989
77Type I transferrin isoform profile (HP:0003642)1.92335808
78Renal cortical cysts (HP:0000803)1.91562400
79Tinnitus (HP:0000360)1.89242890
80Recurrent skin infections (HP:0001581)1.89025681
81Anorexia (HP:0002039)1.88972604
82Macrocytic anemia (HP:0001972)1.86779628
83B lymphocytopenia (HP:0010976)1.86545189
84Eczematoid dermatitis (HP:0000976)1.85985691
85Pancreatic fibrosis (HP:0100732)1.84208518
86Abnormality of dicarboxylic acid metabolism (HP:0010995)1.83953696
87Dicarboxylic aciduria (HP:0003215)1.83953696
88Gastrointestinal infarctions (HP:0005244)1.83557432
89Keratoconjunctivitis (HP:0001096)1.82309710
90Molar tooth sign on MRI (HP:0002419)1.81134877
91Abnormality of midbrain morphology (HP:0002418)1.81134877
92Decreased electroretinogram (ERG) amplitude (HP:0000654)1.80543024
93Absent rod-and cone-mediated responses on ERG (HP:0007688)1.80447461
94True hermaphroditism (HP:0010459)1.79980886
95Abnormal protein glycosylation (HP:0012346)1.78865503
96Abnormal glycosylation (HP:0012345)1.78865503
97Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.78865503
98Abnormal protein N-linked glycosylation (HP:0012347)1.78865503
99Lethargy (HP:0001254)1.78185566
100Respiratory difficulties (HP:0002880)1.77920780

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK4.19764652
2TAOK33.29615937
3MST42.79171377
4MAP4K12.58539089
5GRK62.55877954
6EIF2AK12.44434041
7MAP4K22.34084786
8TESK22.24019535
9RIPK42.16729312
10NUAK12.10094339
11TEC1.90241093
12ADRBK21.88540948
13SRPK11.83348821
14TLK11.78582499
15ITK1.75708073
16FES1.75613648
17CDC71.75428864
18SYK1.70045089
19ZAK1.68722582
20VRK21.64974618
21TNK21.50925033
22IRAK41.46458482
23IKBKE1.45620422
24BUB11.43270131
25FRK1.41074351
26BTK1.40746254
27CAMKK21.38942737
28ZAP701.37303708
29STK161.29947027
30LCK1.26039205
31BMPR21.21498613
32JAK31.21193110
33GRK11.20932547
34IKBKB1.18553101
35LYN1.16720099
36ACVR1B1.16708422
37MARK31.16002156
38MAP3K121.15188650
39PIM11.13390567
40IRAK11.07096222
41BCKDK1.02818167
42CSK1.01593904
43KDR1.00481084
44PRKCQ1.00419037
45KIT0.99317388
46HCK0.99002770
47GRK50.95216975
48TYK20.94956429
49MAP3K110.94842167
50BLK0.90098490
51VRK10.89898633
52MAPKAPK30.89021460
53INSRR0.88275368
54MAPK130.86802085
55STK100.83128482
56STK40.80181447
57PLK30.77646069
58WNK40.75976472
59MAP2K30.75749757
60TBK10.74656580
61DYRK20.74278642
62PASK0.74016500
63EIF2AK30.71676131
64PTK2B0.70649465
65MAP2K60.70292767
66JAK10.70029210
67ADRBK10.66532557
68TSSK60.65907537
69PINK10.65499047
70OXSR10.64758546
71RPS6KA40.64351959
72ATR0.62269229
73CSF1R0.61914228
74NME10.59775277
75GRK70.57234715
76PLK20.56154224
77RAF10.55106901
78WNK30.55036722
79CDK190.52788298
80NLK0.51375033
81PIK3CG0.50953399
82JAK20.49672419
83PRKCI0.48315112
84FGR0.48043961
85BRSK20.47947369
86BMPR1B0.46489711
87PLK40.46443672
88MAP2K20.44145563
89* RPS6KA50.43387943
90CSNK2A20.42900287
91CSNK2A10.42482118
92DAPK10.42391240
93CDK80.39170339
94CAMKK10.38954901
95MAP3K140.36906241
96LRRK20.36881670
97TRIM280.34842008
98EIF2AK20.33526581
99DYRK30.33213175
100MAPK110.32106980

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.95265271
2Primary immunodeficiency_Homo sapiens_hsa053403.62684153
3Oxidative phosphorylation_Homo sapiens_hsa001903.28489114
4Ribosome_Homo sapiens_hsa030103.08569485
5Parkinsons disease_Homo sapiens_hsa050122.86883310
6RNA polymerase_Homo sapiens_hsa030202.67179836
7Homologous recombination_Homo sapiens_hsa034402.19937864
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.13377610
9Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.12257692
10DNA replication_Homo sapiens_hsa030302.03452035
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.98490664
12Protein export_Homo sapiens_hsa030601.96954634
13Graft-versus-host disease_Homo sapiens_hsa053321.91529521
14Spliceosome_Homo sapiens_hsa030401.87906025
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.85821411
16Antigen processing and presentation_Homo sapiens_hsa046121.85357626
17Mismatch repair_Homo sapiens_hsa034301.83775367
18Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.81434498
19Huntingtons disease_Homo sapiens_hsa050161.71924013
20Alzheimers disease_Homo sapiens_hsa050101.70481687
21Basal transcription factors_Homo sapiens_hsa030221.57695548
22Allograft rejection_Homo sapiens_hsa053301.57508182
23SNARE interactions in vesicular transport_Homo sapiens_hsa041301.57477808
24RNA degradation_Homo sapiens_hsa030181.55108643
25Autoimmune thyroid disease_Homo sapiens_hsa053201.54437514
26Regulation of autophagy_Homo sapiens_hsa041401.50623434
27Fanconi anemia pathway_Homo sapiens_hsa034601.49765773
28Nucleotide excision repair_Homo sapiens_hsa034201.49350058
29T cell receptor signaling pathway_Homo sapiens_hsa046601.47167715
30Intestinal immune network for IgA production_Homo sapiens_hsa046721.39364623
31Hematopoietic cell lineage_Homo sapiens_hsa046401.38164318
32Pyrimidine metabolism_Homo sapiens_hsa002401.33681978
33Type I diabetes mellitus_Homo sapiens_hsa049401.33032309
34Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.27665920
35NOD-like receptor signaling pathway_Homo sapiens_hsa046211.25744477
36Base excision repair_Homo sapiens_hsa034101.25142037
37One carbon pool by folate_Homo sapiens_hsa006701.22528371
38NF-kappa B signaling pathway_Homo sapiens_hsa040641.21943983
39Measles_Homo sapiens_hsa051621.15600405
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.11853099
41RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.08999053
42RNA transport_Homo sapiens_hsa030131.08419331
43Collecting duct acid secretion_Homo sapiens_hsa049661.08402274
44Nitrogen metabolism_Homo sapiens_hsa009101.04784817
45Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.04478578
46Phototransduction_Homo sapiens_hsa047440.99643902
47Asthma_Homo sapiens_hsa053100.94019136
48Purine metabolism_Homo sapiens_hsa002300.92333718
49Peroxisome_Homo sapiens_hsa041460.90833072
50Butanoate metabolism_Homo sapiens_hsa006500.87643715
51Linoleic acid metabolism_Homo sapiens_hsa005910.85954786
52Herpes simplex infection_Homo sapiens_hsa051680.85929912
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.84856465
54Epstein-Barr virus infection_Homo sapiens_hsa051690.84041312
55Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.79668866
56Jak-STAT signaling pathway_Homo sapiens_hsa046300.78765490
57alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.78358665
58Non-homologous end-joining_Homo sapiens_hsa034500.77666282
59Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.73205054
60Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.72438551
61Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.70953016
62Leishmaniasis_Homo sapiens_hsa051400.69782598
63Sulfur metabolism_Homo sapiens_hsa009200.69654721
64Rheumatoid arthritis_Homo sapiens_hsa053230.68219046
65Cardiac muscle contraction_Homo sapiens_hsa042600.66251893
66Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.65172329
67Caffeine metabolism_Homo sapiens_hsa002320.64277632
68Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.62660541
69Selenocompound metabolism_Homo sapiens_hsa004500.60084933
70Malaria_Homo sapiens_hsa051440.59899956
71Legionellosis_Homo sapiens_hsa051340.58910825
72Osteoclast differentiation_Homo sapiens_hsa043800.52378627
73Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.52375363
74B cell receptor signaling pathway_Homo sapiens_hsa046620.49775614
75Chemical carcinogenesis_Homo sapiens_hsa052040.48686648
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.47721283
77Ether lipid metabolism_Homo sapiens_hsa005650.47134117
78Arachidonic acid metabolism_Homo sapiens_hsa005900.46965266
79Sulfur relay system_Homo sapiens_hsa041220.46864041
80Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45154411
81Metabolic pathways_Homo sapiens_hsa011000.45122636
82Tuberculosis_Homo sapiens_hsa051520.43386486
83Drug metabolism - other enzymes_Homo sapiens_hsa009830.43231956
84Propanoate metabolism_Homo sapiens_hsa006400.42797274
85Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.42202339
86Glutathione metabolism_Homo sapiens_hsa004800.41886386
87Olfactory transduction_Homo sapiens_hsa047400.41594834
88Maturity onset diabetes of the young_Homo sapiens_hsa049500.40997928
89Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.40459463
90Chemokine signaling pathway_Homo sapiens_hsa040620.36529483
91Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35306455
92Folate biosynthesis_Homo sapiens_hsa007900.34642170
93Toll-like receptor signaling pathway_Homo sapiens_hsa046200.34326894
94Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.32002846
95Cell cycle_Homo sapiens_hsa041100.30639254
96Shigellosis_Homo sapiens_hsa051310.30419673
97Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.29685017
98Retinol metabolism_Homo sapiens_hsa008300.28939153
99Apoptosis_Homo sapiens_hsa042100.26125975
100Tryptophan metabolism_Homo sapiens_hsa003800.25979910

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