C9ORF72

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neural tube formation (GO:0001841)5.20988133
2protein localization to cilium (GO:0061512)4.35420027
3presynaptic membrane assembly (GO:0097105)4.34557705
4pyrimidine nucleobase catabolic process (GO:0006208)4.26154233
5epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.21515030
6epithelial cilium movement (GO:0003351)4.12039824
7cell wall macromolecule catabolic process (GO:0016998)3.86867615
8cilium movement (GO:0003341)3.84852411
9microglial cell activation (GO:0001774)3.81529061
10positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.79425457
11presynaptic membrane organization (GO:0097090)3.70825431
12cell wall macromolecule metabolic process (GO:0044036)3.70246736
13negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.69401880
14negative regulation of translation, ncRNA-mediated (GO:0040033)3.69401880
15regulation of translation, ncRNA-mediated (GO:0045974)3.69401880
16axoneme assembly (GO:0035082)3.63835410
17neutrophil activation involved in immune response (GO:0002283)3.63699432
18neutrophil mediated immunity (GO:0002446)3.58362902
19positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.53268391
20cilium or flagellum-dependent cell motility (GO:0001539)3.49267521
21intraciliary transport (GO:0042073)3.48899137
22regulation of cilium movement (GO:0003352)3.47329908
23modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.46738982
24positive regulation by organism of defense response of other organism involved in symbiotic interact3.46738982
25modulation by symbiont of host immune response (GO:0052553)3.46738982
26positive regulation by symbiont of host defense response (GO:0052509)3.46738982
27modulation by symbiont of host defense response (GO:0052031)3.46738982
28modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.46738982
29nucleobase catabolic process (GO:0046113)3.44612470
30detection of molecule of bacterial origin (GO:0032490)3.44399060
31olfactory bulb development (GO:0021772)3.34509798
32myeloid leukocyte mediated immunity (GO:0002444)3.27126228
33DNA double-strand break processing (GO:0000729)3.26535598
34cilium morphogenesis (GO:0060271)3.07001341
35cilium organization (GO:0044782)3.06351757
36protein K11-linked deubiquitination (GO:0035871)3.05352198
37neutrophil activation (GO:0042119)3.02232658
38cilium assembly (GO:0042384)2.98885366
39proline transport (GO:0015824)2.94569305
40macrophage activation involved in immune response (GO:0002281)2.93499351
41detection of other organism (GO:0098543)2.92274997
42establishment of protein localization to Golgi (GO:0072600)2.91194380
43positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.90529846
44mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.90529846
45protein targeting to Golgi (GO:0000042)2.88529092
46histone mRNA catabolic process (GO:0071044)2.86059663
47cerebral cortex radially oriented cell migration (GO:0021799)2.85762658
48regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.83794877
49axonemal dynein complex assembly (GO:0070286)2.82215785
50positive regulation of mast cell activation (GO:0033005)2.80927777
51regulation of B cell receptor signaling pathway (GO:0050855)2.80715738
52activated T cell proliferation (GO:0050798)2.78455608
53macrophage activation (GO:0042116)2.78168668
54limb bud formation (GO:0060174)2.78085616
55regulation of collateral sprouting (GO:0048670)2.77028902
56regulation of Rac protein signal transduction (GO:0035020)2.76509089
57negative regulation of cAMP-mediated signaling (GO:0043951)2.73405334
58production of molecular mediator involved in inflammatory response (GO:0002532)2.72498613
59nonmotile primary cilium assembly (GO:0035058)2.71623058
60regulation of timing of cell differentiation (GO:0048505)2.69669720
61cellular extravasation (GO:0045123)2.69664904
62positive regulation of gamma-delta T cell activation (GO:0046645)2.68871000
63leukocyte migration involved in inflammatory response (GO:0002523)2.68114513
64regulation of MHC class II biosynthetic process (GO:0045346)2.65414549
65retinal cone cell development (GO:0046549)2.65244880
66negative regulation of neurotransmitter transport (GO:0051589)2.65189649
67retrograde transport, vesicle recycling within Golgi (GO:0000301)2.63777882
68response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.61021824
69response to host immune response (GO:0052572)2.61021824
70detection of external biotic stimulus (GO:0098581)2.59601829
71regulation of development, heterochronic (GO:0040034)2.59294069
72negative regulation of immunoglobulin mediated immune response (GO:0002890)2.58563859
73negative regulation of B cell mediated immunity (GO:0002713)2.58563859
74regulation of protein glycosylation (GO:0060049)2.58032841
75positive regulation of oligodendrocyte differentiation (GO:0048714)2.58011881
76positive regulation of mast cell activation involved in immune response (GO:0033008)2.57840678
77positive regulation of mast cell degranulation (GO:0043306)2.57840678
78response to peptidoglycan (GO:0032494)2.56120878
79positive regulation of growth hormone secretion (GO:0060124)2.55008051
80gamma-aminobutyric acid transport (GO:0015812)2.54211802
81regulation of mast cell activation (GO:0033003)2.52327063
82regulation of interleukin-8 biosynthetic process (GO:0045414)2.51462521
83photoreceptor cell maintenance (GO:0045494)2.50750020
84negative regulation of interleukin-1 beta production (GO:0032691)2.47604707
85kidney morphogenesis (GO:0060993)2.46915155
86negative regulation of interleukin-12 production (GO:0032695)2.46232386
87negative regulation of exocytosis (GO:0045920)2.45754387
88response to pheromone (GO:0019236)2.44110075
89granulocyte activation (GO:0036230)2.44068096
90negative regulation of interleukin-1 production (GO:0032692)2.43572169
91antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.43364736
92respiratory burst (GO:0045730)2.42746258
93behavioral response to ethanol (GO:0048149)2.41563988
94regulation of interferon-beta biosynthetic process (GO:0045357)2.41047620
95glycosphingolipid biosynthetic process (GO:0006688)2.40097212
96cellular component assembly involved in morphogenesis (GO:0010927)2.39524426
97replication fork processing (GO:0031297)2.38767422
98inositol phosphate catabolic process (GO:0071545)2.38254580
99detection of biotic stimulus (GO:0009595)2.36703601
100negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.36552626

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SALL1_21062744_ChIP-ChIP_HESCs_Human3.34745423
2POU3F2_20337985_ChIP-ChIP_501MEL_Human3.19466863
3IGF1R_20145208_ChIP-Seq_DFB_Human2.94313607
4GBX2_23144817_ChIP-Seq_PC3_Human2.89696797
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.71077003
6CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.65821147
7ZNF274_21170338_ChIP-Seq_K562_Hela2.61564124
8TAF15_26573619_Chip-Seq_HEK293_Human2.43909876
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.32152322
10* P300_19829295_ChIP-Seq_ESCs_Human2.28431665
11SMAD_19615063_ChIP-ChIP_OVARY_Human2.28066751
12VDR_22108803_ChIP-Seq_LS180_Human2.21987627
13FUS_26573619_Chip-Seq_HEK293_Human2.17247258
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.13117947
15AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.08630132
16EWS_26573619_Chip-Seq_HEK293_Human2.08390951
17BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.02718381
18* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.97242593
19PCGF2_27294783_Chip-Seq_ESCs_Mouse1.91240569
20SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.82892725
21SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.80300028
22MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.79879038
23CTBP1_25329375_ChIP-Seq_LNCAP_Human1.79629115
24PIAS1_25552417_ChIP-Seq_VCAP_Human1.78631941
25PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.77975877
26MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.75611201
27SMAD4_21799915_ChIP-Seq_A2780_Human1.74808541
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.73119080
29IRF8_21731497_ChIP-ChIP_J774_Mouse1.72433700
30OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.72206219
31ER_23166858_ChIP-Seq_MCF-7_Human1.69240489
32UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.67666190
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.65746337
34RBPJ_22232070_ChIP-Seq_NCS_Mouse1.64833158
35BCAT_22108803_ChIP-Seq_LS180_Human1.61856166
36SUZ12_27294783_Chip-Seq_NPCs_Mouse1.58635323
37EZH2_27294783_Chip-Seq_NPCs_Mouse1.57027721
38FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.50584150
39POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.49746057
40TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49746057
41AR_25329375_ChIP-Seq_VCAP_Human1.49376361
42STAT3_23295773_ChIP-Seq_U87_Human1.49104106
43TOP2B_26459242_ChIP-Seq_MCF-7_Human1.46755736
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.46356761
45CBP_20019798_ChIP-Seq_JUKART_Human1.44818433
46IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.44818433
47TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.42051457
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.41819166
49NANOG_18555785_Chip-Seq_ESCs_Mouse1.41680161
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41328592
51PCGF2_27294783_Chip-Seq_NPCs_Mouse1.41235153
52NFE2_27457419_Chip-Seq_LIVER_Mouse1.40858376
53NR3C1_21868756_ChIP-Seq_MCF10A_Human1.40630335
54CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.40217931
55RUNX2_22187159_ChIP-Seq_PCA_Human1.37969555
56TCF4_23295773_ChIP-Seq_U87_Human1.36915323
57IRF1_19129219_ChIP-ChIP_H3396_Human1.35933726
58EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.33204126
59FLI1_21867929_ChIP-Seq_TH2_Mouse1.32366679
60MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.28648759
61TCF4_22108803_ChIP-Seq_LS180_Human1.28473332
62P53_22387025_ChIP-Seq_ESCs_Mouse1.26523848
63KLF5_20875108_ChIP-Seq_MESCs_Mouse1.22340735
64CRX_20693478_ChIP-Seq_RETINA_Mouse1.20425821
65E2F1_18555785_Chip-Seq_ESCs_Mouse1.20189827
66GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.19567247
67PRDM14_20953172_ChIP-Seq_ESCs_Human1.15110261
68CMYC_18555785_Chip-Seq_ESCs_Mouse1.14086992
69NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.14075799
70NRF2_20460467_ChIP-Seq_MEFs_Mouse1.14075799
71SOX2_19829295_ChIP-Seq_ESCs_Human1.13800650
72NANOG_19829295_ChIP-Seq_ESCs_Human1.13800650
73TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.12289884
74EZH2_22144423_ChIP-Seq_EOC_Human1.12251403
75OCT4_21477851_ChIP-Seq_ESCs_Mouse1.12123900
76PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.11534126
77SUZ12_18555785_Chip-Seq_ESCs_Mouse1.11026142
78FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10347800
79IRF8_27001747_Chip-Seq_BMDM_Mouse1.09902293
80VDR_24787735_ChIP-Seq_THP-1_Human1.08964293
81ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.08435431
82FOXA1_21572438_ChIP-Seq_LNCaP_Human1.07270207
83SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.07237322
84EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.06029075
85TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05865389
86RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.05287519
87P300_18555785_Chip-Seq_ESCs_Mouse1.05284331
88STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.05263568
89TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.04775799
90IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.04173405
91TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03995873
92HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.03742037
93SALL4_22934838_ChIP-ChIP_CD34+_Human1.02609025
94RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.02384637
95TAL1_26923725_Chip-Seq_HPCs_Mouse1.01940639
96* SOX2_21211035_ChIP-Seq_LN229_Gbm1.01783453
97CDX2_22108803_ChIP-Seq_LS180_Human1.01649822
98EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.00796481
99ELK1_19687146_ChIP-ChIP_HELA_Human1.00548210
100TP53_16413492_ChIP-PET_HCT116_Human1.00323132

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to3.76980789
2MP0003880_abnormal_central_pattern3.39665745
3MP0008877_abnormal_DNA_methylation3.06262339
4MP0003787_abnormal_imprinting3.01392507
5MP0002102_abnormal_ear_morphology2.80199055
6MP0000569_abnormal_digit_pigmentation2.78872376
7MP0005248_abnormal_Harderian_gland2.27588680
8MP0003122_maternal_imprinting2.13093937
9MP0003121_genomic_imprinting2.11610624
10MP0001486_abnormal_startle_reflex1.98272221
11MP0006082_CNS_inflammation1.88149635
12MP0002928_abnormal_bile_duct1.78131332
13MP0003195_calcinosis1.78107761
14MP0008057_abnormal_DNA_replication1.75313613
15MP0001835_abnormal_antigen_presentation1.74939470
16MP0005367_renal/urinary_system_phenotyp1.72886710
17MP0000516_abnormal_urinary_system1.72886710
18MP0005253_abnormal_eye_physiology1.69389767
19MP0008789_abnormal_olfactory_epithelium1.66448253
20MP0005084_abnormal_gallbladder_morpholo1.63247491
21MP0001984_abnormal_olfaction1.61961301
22MP0006054_spinal_hemorrhage1.59418498
23MP0000778_abnormal_nervous_system1.57461874
24MP0005551_abnormal_eye_electrophysiolog1.49423654
25MP0005394_taste/olfaction_phenotype1.45091276
26MP0005499_abnormal_olfactory_system1.45091276
27MP0000427_abnormal_hair_cycle1.41050131
28MP0003690_abnormal_glial_cell1.40268353
29MP0004883_abnormal_blood_vessel1.36283935
30MP0001986_abnormal_taste_sensitivity1.34211723
31MP0009785_altered_susceptibility_to1.33020877
32MP0002653_abnormal_ependyma_morphology1.31152557
33MP0002638_abnormal_pupillary_reflex1.28958474
34MP0002736_abnormal_nociception_after1.28630616
35MP0000631_abnormal_neuroendocrine_gland1.26101470
36MP0001501_abnormal_sleep_pattern1.25362187
37MP0003303_peritoneal_inflammation1.24315079
38MP0004484_altered_response_of1.23372447
39MP0009745_abnormal_behavioral_response1.23213880
40MP0002277_abnormal_respiratory_mucosa1.22438123
41MP0009764_decreased_sensitivity_to1.20018305
42MP0006276_abnormal_autonomic_nervous1.19190033
43MP0002132_abnormal_respiratory_system1.18719332
44MP0002419_abnormal_innate_immunity1.18718489
45MP0001188_hyperpigmentation1.18444133
46MP0006072_abnormal_retinal_apoptosis1.17960621
47MP0003252_abnormal_bile_duct1.17668469
48MP0002009_preneoplasia1.17256343
49MP0001800_abnormal_humoral_immune1.16885415
50MP0001529_abnormal_vocalization1.15062534
51MP0000383_abnormal_hair_follicle1.14994880
52MP0006292_abnormal_olfactory_placode1.14894343
53MP0001968_abnormal_touch/_nociception1.14825240
54MP0003183_abnormal_peptide_metabolism1.13851136
55MP0002751_abnormal_autonomic_nervous1.11615166
56MP0003221_abnormal_cardiomyocyte_apopto1.11041844
57MP0003172_abnormal_lysosome_physiology1.08460417
58MP0003828_pulmonary_edema1.07485433
59MP0009046_muscle_twitch1.05237494
60MP0004270_analgesia1.04412506
61MP0010678_abnormal_skin_adnexa1.03760761
62MP0004043_abnormal_pH_regulation1.00252754
63MP0003635_abnormal_synaptic_transmissio0.99872232
64MP0002090_abnormal_vision0.99297223
65MP0003567_abnormal_fetal_cardiomyocyte0.96752335
66MP0001324_abnormal_eye_pigmentation0.95323622
67MP0002734_abnormal_mechanical_nocicepti0.95142520
68MP0002272_abnormal_nervous_system0.94839693
69MP0003943_abnormal_hepatobiliary_system0.94535154
70MP0003633_abnormal_nervous_system0.94115368
71MP0002063_abnormal_learning/memory/cond0.92486048
72MP0004924_abnormal_behavior0.91561524
73MP0005386_behavior/neurological_phenoty0.91561524
74MP0005671_abnormal_response_to0.91229785
75MP0002452_abnormal_antigen_presenting0.91199661
76MP0002723_abnormal_immune_serum0.89350858
77MP0008058_abnormal_DNA_repair0.89293007
78MP0004142_abnormal_muscle_tone0.89088193
79MP0005167_abnormal_blood-brain_barrier0.88887704
80MP0005646_abnormal_pituitary_gland0.86712453
81MP0002572_abnormal_emotion/affect_behav0.84435647
82MP0000465_gastrointestinal_hemorrhage0.83784036
83MP0002067_abnormal_sensory_capabilities0.83708379
84MP0004133_heterotaxia0.82892418
85MP0001485_abnormal_pinna_reflex0.82057164
86MP0001177_atelectasis0.81333690
87MP0005391_vision/eye_phenotype0.80947819
88MP0004811_abnormal_neuron_physiology0.79128370
89MP0002064_seizures0.78045900
90MP0005195_abnormal_posterior_eye0.76661304
91MP0002420_abnormal_adaptive_immunity0.76557840
92MP0001819_abnormal_immune_cell0.75711509
93MP0004215_abnormal_myocardial_fiber0.75257547
94MP0008260_abnormal_autophagy0.75246382
95MP0005645_abnormal_hypothalamus_physiol0.74444918
96MP0004742_abnormal_vestibular_system0.72777269
97MP0002557_abnormal_social/conspecific_i0.72255126
98MP0001970_abnormal_pain_threshold0.71828529
99MP0005310_abnormal_salivary_gland0.71609797
100MP0003656_abnormal_erythrocyte_physiolo0.70446666

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.95415772
2True hermaphroditism (HP:0010459)3.90378169
3Pancreatic fibrosis (HP:0100732)3.80403210
4Dynein arm defect of respiratory motile cilia (HP:0012255)3.49148517
5Absent/shortened dynein arms (HP:0200106)3.49148517
6Abnormality of midbrain morphology (HP:0002418)3.28012354
7Molar tooth sign on MRI (HP:0002419)3.28012354
8Nephronophthisis (HP:0000090)3.27699966
9Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.20537286
10Chronic hepatic failure (HP:0100626)3.19772551
11Medial flaring of the eyebrow (HP:0010747)3.18383602
12Abnormal respiratory epithelium morphology (HP:0012253)3.09133276
13Abnormal respiratory motile cilium morphology (HP:0005938)3.09133276
14Abnormal ciliary motility (HP:0012262)3.05010227
15Intestinal atresia (HP:0011100)2.97922280
16Abnormality of the renal medulla (HP:0100957)2.95503045
17Stomatitis (HP:0010280)2.94145270
18Abnormal respiratory motile cilium physiology (HP:0012261)2.93237320
19Hyperventilation (HP:0002883)2.89676811
20Retrobulbar optic neuritis (HP:0100654)2.82254805
21Optic neuritis (HP:0100653)2.82254805
22Volvulus (HP:0002580)2.80613673
23Gait imbalance (HP:0002141)2.78869201
24Congenital primary aphakia (HP:0007707)2.77034874
25Recurrent bacterial skin infections (HP:0005406)2.73915677
26Aqueductal stenosis (HP:0002410)2.71864748
27Stomach cancer (HP:0012126)2.65951275
28Drooling (HP:0002307)2.63343817
29Excessive salivation (HP:0003781)2.60890329
30Genital tract atresia (HP:0001827)2.60828032
31Nephrogenic diabetes insipidus (HP:0009806)2.55611499
32Rhinitis (HP:0012384)2.47878733
33Vaginal atresia (HP:0000148)2.42522098
34Cystic liver disease (HP:0006706)2.40823336
35Papillary thyroid carcinoma (HP:0002895)2.40203960
36Anencephaly (HP:0002323)2.37033792
37Aplasia/Hypoplasia of the tongue (HP:0010295)2.36177993
38Postaxial foot polydactyly (HP:0001830)2.35683160
39Recurrent abscess formation (HP:0002722)2.35339584
40Abnormality of the labia minora (HP:0012880)2.33978171
41Absent speech (HP:0001344)2.28600119
42Hypochromic microcytic anemia (HP:0004840)2.25952418
43Orchitis (HP:0100796)2.22245708
44Postaxial hand polydactyly (HP:0001162)2.17558754
45Recurrent gram-negative bacterial infections (HP:0005420)2.16152175
46Myositis (HP:0100614)2.14527710
47Congenital hepatic fibrosis (HP:0002612)2.12100371
48Progressive inability to walk (HP:0002505)2.11418011
49Abnormality of the renal cortex (HP:0011035)2.08719468
50Neoplasm of the tracheobronchial system (HP:0100552)2.08444112
51Bronchiectasis (HP:0002110)2.08239390
52Narrow forehead (HP:0000341)2.06137046
53Abolished electroretinogram (ERG) (HP:0000550)2.04573935
54Abnormality of lateral ventricle (HP:0030047)2.01000337
55Widely spaced teeth (HP:0000687)2.00622161
56Oculomotor apraxia (HP:0000657)1.99727674
57Tented upper lip vermilion (HP:0010804)1.99449844
58Thyroiditis (HP:0100646)1.98257591
59* Amyotrophic lateral sclerosis (HP:0007354)1.98036890
60Male pseudohermaphroditism (HP:0000037)1.96381353
61Thyroid carcinoma (HP:0002890)1.95999710
62Absent rod-and cone-mediated responses on ERG (HP:0007688)1.95591766
63Growth hormone deficiency (HP:0000824)1.94598081
64Hematochezia (HP:0002573)1.93749050
65Focal motor seizures (HP:0011153)1.92381959
66Polyphagia (HP:0002591)1.91976481
67Oligodactyly (hands) (HP:0001180)1.90657207
68Gaze-evoked nystagmus (HP:0000640)1.88620356
69Keratoconjunctivitis (HP:0001096)1.87384756
70Broad foot (HP:0001769)1.86864666
71Bile duct proliferation (HP:0001408)1.86621129
72Abnormal biliary tract physiology (HP:0012439)1.86621129
73Keratoconjunctivitis sicca (HP:0001097)1.84933092
74Poor coordination (HP:0002370)1.84870139
75Febrile seizures (HP:0002373)1.84350467
76Abnormality of salivation (HP:0100755)1.84338919
77Progressive cerebellar ataxia (HP:0002073)1.83534329
78Alveolar cell carcinoma (HP:0006519)1.82705102
79Abnormal rod and cone electroretinograms (HP:0008323)1.82693285
80Cupped ear (HP:0000378)1.81030281
81Sclerocornea (HP:0000647)1.81025870
82Curly hair (HP:0002212)1.80761538
83Disproportionate short-trunk short stature (HP:0003521)1.80589704
84Renal hypoplasia (HP:0000089)1.79499794
85Abnormality of the corticospinal tract (HP:0002492)1.79014592
86Disinhibition (HP:0000734)1.77796075
87Inappropriate behavior (HP:0000719)1.77136647
88Occipital encephalocele (HP:0002085)1.76920452
89Hip dysplasia (HP:0001385)1.75967045
90Chronic mucocutaneous candidiasis (HP:0002728)1.75874130
91Recurrent cutaneous fungal infections (HP:0011370)1.75874130
92Agnosia (HP:0010524)1.75192267
93Aplasia/Hypoplasia of the tibia (HP:0005772)1.74906209
94Chronic bronchitis (HP:0004469)1.73964472
95Hypothermia (HP:0002045)1.73842312
96Decreased central vision (HP:0007663)1.72849240
97Broad-based gait (HP:0002136)1.72651460
98* Specific learning disability (HP:0001328)1.72585556
99Recurrent skin infections (HP:0001581)1.69957421
100Agitation (HP:0000713)1.68974423

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK3.82889040
2WNK32.89182226
3TRIM282.64613859
4ERBB32.62125965
5BCR2.33334334
6ACVR1B2.25649557
7MAP3K42.20217475
8MAPK132.13467948
9MAP4K22.08388626
10SIK32.05244974
11TNIK1.95216928
12BLK1.77916268
13CASK1.74657770
14BMPR1B1.73315076
15NUAK11.66177113
16STK38L1.57127827
17RIPK41.52043810
18YES11.49400470
19BRD41.48650891
20TAOK31.46113603
21PRKD31.37943554
22BMPR21.34851911
23MARK11.32905480
24FGFR21.27753486
25MKNK21.26697857
26PAK31.26513306
27IRAK11.24042988
28FGR1.20727957
29IRAK41.18364333
30MAP2K71.18170176
31PLK21.17357975
32MAP2K41.11372657
33EIF2AK31.09558678
34MAP3K21.08172773
35INSRR1.08027249
36IRAK21.07193229
37PINK11.06457414
38KSR11.06341781
39DYRK31.05848765
40OXSR11.05213845
41EPHA41.02346629
42EPHA31.02240368
43CDK191.02098236
44BRSK21.00442668
45SGK20.97848170
46CAMKK20.95143782
47TNK20.93469648
48PRKCE0.88752879
49MKNK10.88461336
50ZAK0.87172947
51FES0.86511503
52CSK0.86399913
53DYRK1A0.85447180
54NLK0.83919573
55CCNB10.83522200
56CSNK1G20.83113357
57NTRK20.78090605
58TXK0.77464868
59NTRK30.77291256
60DAPK20.73965243
61AKT30.71271804
62PTK2B0.71039456
63LYN0.69880422
64ADRBK20.67438447
65MINK10.67432844
66CSNK1G10.66968913
67PNCK0.66737520
68MARK30.66256173
69TEC0.65577607
70STK110.64149965
71TGFBR10.63812770
72JAK20.63383862
73TYK20.59753669
74PLK30.58783668
75PKN10.56636558
76DYRK20.56250331
77RPS6KA40.54544426
78SYK0.53896346
79RAF10.52940519
80CSNK1G30.50499251
81CSNK1A1L0.50294952
82SGK30.49992923
83MAPK150.49634339
84FER0.49540638
85SGK4940.49363220
86SGK2230.49363220
87IKBKE0.48578960
88GRK10.48094389
89HCK0.46346649
90STK390.45996433
91BCKDK0.45384245
92PLK40.44812700
93MAP3K140.43626171
94UHMK10.43481895
95GRK60.43349947
96EGFR0.42921327
97TAOK10.41003492
98ERBB20.39922728
99ABL10.38398721
100CDK30.37587298

Predicted pathways (KEGG)

RankGene SetZ-score
1NOD-like receptor signaling pathway_Homo sapiens_hsa046212.32640089
2Nicotine addiction_Homo sapiens_hsa050332.14515618
3Legionellosis_Homo sapiens_hsa051342.10560728
4Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.08493895
5Leishmaniasis_Homo sapiens_hsa051402.07896706
6Staphylococcus aureus infection_Homo sapiens_hsa051501.99063168
7Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.98605938
8Asthma_Homo sapiens_hsa053101.91203303
9Type I diabetes mellitus_Homo sapiens_hsa049401.87158135
10Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.87146138
11Regulation of autophagy_Homo sapiens_hsa041401.83252762
12Graft-versus-host disease_Homo sapiens_hsa053321.72218915
13Tuberculosis_Homo sapiens_hsa051521.71980265
14Non-homologous end-joining_Homo sapiens_hsa034501.69879908
15Allograft rejection_Homo sapiens_hsa053301.63073076
16Phototransduction_Homo sapiens_hsa047441.60762211
17Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.55805774
18Autoimmune thyroid disease_Homo sapiens_hsa053201.49691133
19Protein export_Homo sapiens_hsa030601.46820032
20Osteoclast differentiation_Homo sapiens_hsa043801.44178997
21Morphine addiction_Homo sapiens_hsa050321.36055984
22Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.35904756
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.35651470
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.34494703
25GABAergic synapse_Homo sapiens_hsa047271.33688710
26Propanoate metabolism_Homo sapiens_hsa006401.31836257
27Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.31745505
28Fanconi anemia pathway_Homo sapiens_hsa034601.29808103
29Intestinal immune network for IgA production_Homo sapiens_hsa046721.29450674
30Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.26795168
31Rheumatoid arthritis_Homo sapiens_hsa053231.25344989
32Circadian rhythm_Homo sapiens_hsa047101.21966419
33Phagosome_Homo sapiens_hsa041451.17599360
34Dorso-ventral axis formation_Homo sapiens_hsa043201.14627207
35Collecting duct acid secretion_Homo sapiens_hsa049661.14413835
36Dopaminergic synapse_Homo sapiens_hsa047281.14286952
37Long-term depression_Homo sapiens_hsa047301.12745196
38Ether lipid metabolism_Homo sapiens_hsa005651.11865462
39Chemokine signaling pathway_Homo sapiens_hsa040621.11783457
40Taste transduction_Homo sapiens_hsa047421.05456695
41Olfactory transduction_Homo sapiens_hsa047401.03740856
42Butanoate metabolism_Homo sapiens_hsa006501.01875089
43Circadian entrainment_Homo sapiens_hsa047131.01387643
44Glutamatergic synapse_Homo sapiens_hsa047241.00692944
45Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.00392007
46Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.00104897
47Serotonergic synapse_Homo sapiens_hsa047260.99201364
48Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.95233863
49Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.93889606
50Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.88768612
51Linoleic acid metabolism_Homo sapiens_hsa005910.87635914
52Amphetamine addiction_Homo sapiens_hsa050310.84774577
53Toll-like receptor signaling pathway_Homo sapiens_hsa046200.81376441
54RNA degradation_Homo sapiens_hsa030180.81318791
55Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.80659476
56Viral myocarditis_Homo sapiens_hsa054160.80015119
57Steroid biosynthesis_Homo sapiens_hsa001000.79903501
58Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.77857067
59Hematopoietic cell lineage_Homo sapiens_hsa046400.73717686
60Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.73067784
61Jak-STAT signaling pathway_Homo sapiens_hsa046300.72809575
62Cocaine addiction_Homo sapiens_hsa050300.72482235
63Pertussis_Homo sapiens_hsa051330.71479800
64Influenza A_Homo sapiens_hsa051640.71111984
65Toxoplasmosis_Homo sapiens_hsa051450.70745698
66Salmonella infection_Homo sapiens_hsa051320.67587386
67alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.67237930
68Cholinergic synapse_Homo sapiens_hsa047250.66797676
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.66597587
70Measles_Homo sapiens_hsa051620.65977508
71Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65143853
72Caffeine metabolism_Homo sapiens_hsa002320.62545447
73Axon guidance_Homo sapiens_hsa043600.61325387
74Nitrogen metabolism_Homo sapiens_hsa009100.60369641
75Herpes simplex infection_Homo sapiens_hsa051680.60257256
76Peroxisome_Homo sapiens_hsa041460.58601654
77Basal transcription factors_Homo sapiens_hsa030220.57622627
78Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.56736976
79TNF signaling pathway_Homo sapiens_hsa046680.56341916
80Type II diabetes mellitus_Homo sapiens_hsa049300.55519282
81RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.54688445
82Oocyte meiosis_Homo sapiens_hsa041140.54408786
83cAMP signaling pathway_Homo sapiens_hsa040240.53882342
84Colorectal cancer_Homo sapiens_hsa052100.53640253
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.52061736
86beta-Alanine metabolism_Homo sapiens_hsa004100.50696826
87African trypanosomiasis_Homo sapiens_hsa051430.50515394
88Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.50452158
89FoxO signaling pathway_Homo sapiens_hsa040680.50185974
90Antigen processing and presentation_Homo sapiens_hsa046120.50099621
91Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.49221913
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48201735
93Salivary secretion_Homo sapiens_hsa049700.48136420
94Renin secretion_Homo sapiens_hsa049240.47700690
95T cell receptor signaling pathway_Homo sapiens_hsa046600.46171206
96Hedgehog signaling pathway_Homo sapiens_hsa043400.45687177
97Arachidonic acid metabolism_Homo sapiens_hsa005900.44916170
98Oxytocin signaling pathway_Homo sapiens_hsa049210.44384084
99Choline metabolism in cancer_Homo sapiens_hsa052310.44325214
100Prolactin signaling pathway_Homo sapiens_hsa049170.43736275

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