CHRFAM7A

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 nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of protein homodimerization activity (GO:0090073)5.74512675
2urate metabolic process (GO:0046415)5.58195533
3ncRNA catabolic process (GO:0034661)5.44860319
4cellular response to arsenic-containing substance (GO:0071243)5.22499204
5regulation of germinal center formation (GO:0002634)5.15158068
6monoubiquitinated protein deubiquitination (GO:0035520)5.13759628
7ribosome assembly (GO:0042255)5.10060846
8stress granule assembly (GO:0034063)5.09263624
9cranial nerve morphogenesis (GO:0021602)4.84970683
10definitive hemopoiesis (GO:0060216)4.76777533
11segment specification (GO:0007379)4.74538645
12regulation of sarcomere organization (GO:0060297)4.73184554
13response to vitamin E (GO:0033197)4.69190658
14DNA double-strand break processing (GO:0000729)4.65875480
15cardiac ventricle formation (GO:0003211)4.57686997
16cartilage morphogenesis (GO:0060536)4.55824902
17epithelial cell differentiation involved in kidney development (GO:0035850)4.49936905
18purine nucleobase metabolic process (GO:0006144)4.44511107
19cardiac chamber formation (GO:0003207)4.23265228
20negative regulation of membrane potential (GO:0045837)4.12122150
21positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)4.11047285
22melanin biosynthetic process (GO:0042438)4.07704062
23ubiquinone biosynthetic process (GO:0006744)4.00521538
24DNA integration (GO:0015074)3.97094153
25purine nucleotide salvage (GO:0032261)3.92953746
26positive regulation of translational initiation (GO:0045948)3.86758403
27ubiquinone metabolic process (GO:0006743)3.85014445
28positive regulation of cell cycle G1/S phase transition (GO:1902808)3.74160933
29secondary metabolite biosynthetic process (GO:0044550)3.70320268
30germinal center formation (GO:0002467)3.61227744
31melanin metabolic process (GO:0006582)3.60666020
32thyroid gland development (GO:0030878)3.56852640
33pyrimidine nucleobase catabolic process (GO:0006208)3.55481894
34DNA replication-dependent nucleosome assembly (GO:0006335)3.54035307
35DNA replication-dependent nucleosome organization (GO:0034723)3.54035307
36regulation of DNA endoreduplication (GO:0032875)3.53794176
37mitotic sister chromatid cohesion (GO:0007064)3.38631419
38cell wall macromolecule catabolic process (GO:0016998)3.27306762
39heart field specification (GO:0003128)3.25457371
40secondary heart field specification (GO:0003139)3.25457371
41negative regulation of JUN kinase activity (GO:0043508)3.22584617
42positive regulation of cardiac muscle cell differentiation (GO:2000727)3.19504499
43regulation of histone H3-K9 methylation (GO:0051570)3.19359872
44negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.19249358
45modulation of growth of symbiont involved in interaction with host (GO:0044144)3.19249358
46regulation of growth of symbiont in host (GO:0044126)3.19249358
47negative regulation of growth of symbiont in host (GO:0044130)3.19249358
48histone H3-K9 methylation (GO:0051567)3.18247676
49positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.15339503
50proline transport (GO:0015824)3.15239911
51melanocyte differentiation (GO:0030318)3.13166734
52cell morphogenesis involved in neuron differentiation (GO:0048667)3.11433311
53quinone biosynthetic process (GO:1901663)3.07125518
54regulation of megakaryocyte differentiation (GO:0045652)3.03934328
55positive regulation of mitochondrial fission (GO:0090141)3.03408348
56purine nucleobase biosynthetic process (GO:0009113)2.96050021
57negative regulation of DNA-dependent DNA replication (GO:2000104)2.95880542
58microglial cell activation (GO:0001774)2.95790315
59epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.92633925
60neuroepithelial cell differentiation (GO:0060563)2.85680742
61positive regulation of B cell differentiation (GO:0045579)2.84168820
62positive regulation of muscle hypertrophy (GO:0014742)2.82601531
63positive regulation of cardiac muscle hypertrophy (GO:0010613)2.82601531
64carnitine shuttle (GO:0006853)2.82407891
65regulation of chemokine biosynthetic process (GO:0045073)2.80778376
66regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.78719612
67regulation of collateral sprouting (GO:0048670)2.76688967
68mitochondrial genome maintenance (GO:0000002)2.76571655
69positive regulation of growth hormone secretion (GO:0060124)2.75141459
70peroxisome fission (GO:0016559)2.75016023
71specification of organ identity (GO:0010092)2.74931498
72nucleobase metabolic process (GO:0009112)2.74606132
73mitochondrion distribution (GO:0048311)2.73354088
74positive regulation of cell size (GO:0045793)2.72938639
75cellular response to osmotic stress (GO:0071470)2.72523881
76cellular response to antibiotic (GO:0071236)2.72068654
77pigment cell differentiation (GO:0050931)2.70673227
78NADPH regeneration (GO:0006740)2.70175694
79regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.69827848
80pentose-phosphate shunt (GO:0006098)2.67669560
81cell wall macromolecule metabolic process (GO:0044036)2.65954438
82regulation of penile erection (GO:0060405)2.65658583
83positive regulation of chemokine biosynthetic process (GO:0045080)2.60289118
84grooming behavior (GO:0007625)2.55797369
85regulation of protein homodimerization activity (GO:0043496)2.54301464
86extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)2.54195843
87negative regulation of interleukin-1 beta production (GO:0032691)2.54039097
88Arp2/3 complex-mediated actin nucleation (GO:0034314)2.53892935
89carnitine transmembrane transport (GO:1902603)2.52979004
90DNA damage response, detection of DNA damage (GO:0042769)2.51372198
91intraciliary transport (GO:0042073)2.49765663
92androgen receptor signaling pathway (GO:0030521)2.49010148
93tryptophan catabolic process (GO:0006569)2.47783014
94indole-containing compound catabolic process (GO:0042436)2.47783014
95indolalkylamine catabolic process (GO:0046218)2.47783014
96regulation of MHC class II biosynthetic process (GO:0045346)2.47768697
97histone mRNA metabolic process (GO:0008334)2.47506687
98mRNA splice site selection (GO:0006376)2.47179761
99immunoglobulin mediated immune response (GO:0016064)2.46910604
100aggressive behavior (GO:0002118)2.45325526

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.69440492
2IGF1R_20145208_ChIP-Seq_DFB_Human4.32415273
3SALL1_21062744_ChIP-ChIP_HESCs_Human3.56548262
4ZNF274_21170338_ChIP-Seq_K562_Hela3.32592823
5MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.22275691
6FUS_26573619_Chip-Seq_HEK293_Human3.18618719
7EZH2_22144423_ChIP-Seq_EOC_Human3.11353749
8POU3F2_20337985_ChIP-ChIP_501MEL_Human3.05718691
9TAF15_26573619_Chip-Seq_HEK293_Human2.85243365
10ESR1_15608294_ChIP-ChIP_MCF-7_Human2.81501771
11GBX2_23144817_ChIP-Seq_PC3_Human2.78554626
12EWS_26573619_Chip-Seq_HEK293_Human2.65991970
13ELK1_19687146_ChIP-ChIP_HELA_Human2.40454606
14BP1_19119308_ChIP-ChIP_Hs578T_Human2.31376759
15POU5F1_16153702_ChIP-ChIP_HESCs_Human2.25602184
16IRF8_21731497_ChIP-ChIP_J774_Mouse2.20844387
17E2F4_17652178_ChIP-ChIP_JURKAT_Human2.05572458
18P300_19829295_ChIP-Seq_ESCs_Human2.04873989
19SCL_19346495_ChIP-Seq_HPC-7_Human1.93421424
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.87019707
21CBX2_27304074_Chip-Seq_ESCs_Mouse1.79522690
22ZFP57_27257070_Chip-Seq_ESCs_Mouse1.75116831
23KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.73236249
24RNF2_27304074_Chip-Seq_NSC_Mouse1.64917777
25CTBP1_25329375_ChIP-Seq_LNCAP_Human1.59281088
26FOXP3_21729870_ChIP-Seq_TREG_Human1.59098583
27CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.56984797
28MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.54628447
29VDR_23849224_ChIP-Seq_CD4+_Human1.53001797
30IRF8_22096565_ChIP-ChIP_GC-B_Human1.47683757
31UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.46434936
32GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.45318257
33KLF5_20875108_ChIP-Seq_MESCs_Mouse1.45047835
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.44158347
35TAL1_26923725_Chip-Seq_HPCs_Mouse1.42672457
36RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.41866657
37FOXA1_21572438_ChIP-Seq_LNCaP_Human1.38196145
38VDR_22108803_ChIP-Seq_LS180_Human1.32454696
39CREB1_15753290_ChIP-ChIP_HEK293T_Human1.32360298
40CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.31791964
41POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.31409333
42TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31409333
43PADI4_21655091_ChIP-ChIP_MCF-7_Human1.30434886
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.29476565
45HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.29099282
46FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.28849997
47KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.28342384
48AR_21572438_ChIP-Seq_LNCaP_Human1.26090765
49CBP_20019798_ChIP-Seq_JUKART_Human1.26005834
50IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.26005834
51SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24978662
52RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24736271
53MYC_18940864_ChIP-ChIP_HL60_Human1.24666550
54SPI1_23547873_ChIP-Seq_NB4_Human1.24242857
55SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.21385837
56SMAD4_21799915_ChIP-Seq_A2780_Human1.18803989
57TOP2B_26459242_ChIP-Seq_MCF-7_Human1.18626077
58EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.17027026
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.16444222
60SALL4_22934838_ChIP-ChIP_CD34+_Human1.15544744
61NOTCH1_21737748_ChIP-Seq_TLL_Human1.15156719
62CDX2_19796622_ChIP-Seq_MESCs_Mouse1.14746751
63CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.14723527
64FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.13665190
65* RUNX2_22187159_ChIP-Seq_PCA_Human1.13608055
66CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.12208803
67GABP_17652178_ChIP-ChIP_JURKAT_Human1.10891414
68YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10014207
69TCF4_22108803_ChIP-Seq_LS180_Human1.09744412
70HOXB4_20404135_ChIP-ChIP_EML_Mouse1.08537664
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07815823
72IRF1_19129219_ChIP-ChIP_H3396_Human1.07803410
73SOX2_19829295_ChIP-Seq_ESCs_Human1.07321985
74NANOG_19829295_ChIP-Seq_ESCs_Human1.07321985
75FLI1_21867929_ChIP-Seq_TH2_Mouse1.07156303
76EST1_17652178_ChIP-ChIP_JURKAT_Human1.06487812
77TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.04753495
78MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04718151
79PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.04618191
80KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01331872
81STAT3_23295773_ChIP-Seq_U87_Human1.00016760
82CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.99606551
83HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.98359759
84SMAD3_21741376_ChIP-Seq_EPCs_Human0.97333292
85MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.97101091
86AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.96533151
87SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95303578
88IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.95090743
89E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.94525371
90MYB_26560356_Chip-Seq_TH2_Human0.94516143
91ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.93913827
92NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.92554295
93E2F1_21310950_ChIP-Seq_MCF-7_Human0.92067268
94EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.91462459
95ELK4_26923725_Chip-Seq_MESODERM_Mouse0.91173326
96AR_25329375_ChIP-Seq_VCAP_Human0.89235799
97EGR1_19374776_ChIP-ChIP_THP-1_Human0.88429369
98PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.88306611
99SOX2_16153702_ChIP-ChIP_HESCs_Human0.87420824
100NANOG_16153702_ChIP-ChIP_HESCs_Human0.86886874

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002009_preneoplasia4.70435925
2MP0008007_abnormal_cellular_replicative3.47166194
3MP0000569_abnormal_digit_pigmentation3.44379826
4MP0005174_abnormal_tail_pigmentation3.08254549
5MP0000015_abnormal_ear_pigmentation3.02587091
6MP0006292_abnormal_olfactory_placode2.92701873
7MP0003806_abnormal_nucleotide_metabolis2.90486114
8MP0000372_irregular_coat_pigmentation2.85849132
9MP0003172_abnormal_lysosome_physiology2.41225943
10MP0002822_catalepsy2.38588049
11MP0003880_abnormal_central_pattern2.16774768
12MP0002095_abnormal_skin_pigmentation2.13600211
13MP0000681_abnormal_thyroid_gland2.05628197
14MP0002837_dystrophic_cardiac_calcinosis1.96435450
15MP0001764_abnormal_homeostasis1.96087721
16MP0010094_abnormal_chromosome_stability1.88497341
17MP0001545_abnormal_hematopoietic_system1.81491149
18MP0005397_hematopoietic_system_phenotyp1.81491149
19MP0003718_maternal_effect1.71654958
20MP0001835_abnormal_antigen_presentation1.69865700
21MP0002102_abnormal_ear_morphology1.69376745
22MP0003136_yellow_coat_color1.66703602
23MP0009278_abnormal_bone_marrow1.66319867
24MP0000778_abnormal_nervous_system1.65721245
25MP0009697_abnormal_copulation1.57113682
26MP0009333_abnormal_splenocyte_physiolog1.56186957
27MP0005171_absent_coat_pigmentation1.53571439
28MP0000490_abnormal_crypts_of1.52493223
29MP0004084_abnormal_cardiac_muscle1.52349745
30MP0005670_abnormal_white_adipose1.50608934
31MP0002735_abnormal_chemical_nociception1.44293701
32MP0008058_abnormal_DNA_repair1.40218082
33MP0003315_abnormal_perineum_morphology1.36309233
34MP0001293_anophthalmia1.34571891
35MP0008995_early_reproductive_senescence1.32311501
36MP0001188_hyperpigmentation1.32078222
37MP0003077_abnormal_cell_cycle1.31005421
38MP0005248_abnormal_Harderian_gland1.25362321
39MP0005084_abnormal_gallbladder_morpholo1.23214491
40MP0001486_abnormal_startle_reflex1.23056040
41MP0005464_abnormal_platelet_physiology1.21635862
42MP0008877_abnormal_DNA_methylation1.19476462
43MP0000371_diluted_coat_color1.19335086
44MP0005266_abnormal_metabolism1.18808974
45MP0005075_abnormal_melanosome_morpholog1.18521776
46MP0000516_abnormal_urinary_system1.16918988
47MP0005367_renal/urinary_system_phenotyp1.16918988
48MP0006054_spinal_hemorrhage1.14154478
49MP0006035_abnormal_mitochondrial_morpho1.12559956
50MP0009250_abnormal_appendicular_skeleto1.09907396
51MP0008057_abnormal_DNA_replication1.08722082
52MP0001324_abnormal_eye_pigmentation1.07224179
53MP0003567_abnormal_fetal_cardiomyocyte1.02741962
54MP0005646_abnormal_pituitary_gland1.01319114
55MP0001529_abnormal_vocalization1.00135795
56MP0003693_abnormal_embryo_hatching0.98897648
57MP0005253_abnormal_eye_physiology0.98603224
58MP0005058_abnormal_lysosome_morphology0.96222958
59MP0005408_hypopigmentation0.96150429
60MP0000465_gastrointestinal_hemorrhage0.95862968
61MP0006082_CNS_inflammation0.93859540
62MP0002160_abnormal_reproductive_system0.92465058
63MP0006276_abnormal_autonomic_nervous0.92038772
64MP0002090_abnormal_vision0.91952360
65MP0005535_abnormal_body_temperature0.91902264
66MP0008789_abnormal_olfactory_epithelium0.91419740
67MP0002249_abnormal_larynx_morphology0.90356411
68MP0002075_abnormal_coat/hair_pigmentati0.89373613
69MP0001929_abnormal_gametogenesis0.89213748
70MP0005391_vision/eye_phenotype0.86154302
71MP0005666_abnormal_adipose_tissue0.86055470
72MP0006036_abnormal_mitochondrial_physio0.85204008
73MP0002419_abnormal_innate_immunity0.84952066
74MP0003121_genomic_imprinting0.83760394
75MP0005647_abnormal_sex_gland0.82965133
76MP0003937_abnormal_limbs/digits/tail_de0.81437117
77MP0005410_abnormal_fertilization0.80185479
78MP0005551_abnormal_eye_electrophysiolog0.78770228
79MP0002092_abnormal_eye_morphology0.77163138
80MP0003303_peritoneal_inflammation0.74067482
81MP0002653_abnormal_ependyma_morphology0.73877540
82MP0001984_abnormal_olfaction0.72666341
83MP0003698_abnormal_male_reproductive0.72469621
84MP0002148_abnormal_hypersensitivity_rea0.69697156
85MP0000631_abnormal_neuroendocrine_gland0.69282108
86MP0002405_respiratory_system_inflammati0.68908026
87MP0002166_altered_tumor_susceptibility0.66962764
88MP0002006_tumorigenesis0.66915107
89MP0002751_abnormal_autonomic_nervous0.66524324
90MP0002229_neurodegeneration0.66260040
91MP0003943_abnormal_hepatobiliary_system0.65020398
92MP0002210_abnormal_sex_determination0.63215323
93MP0003763_abnormal_thymus_physiology0.62692446
94MP0009384_cardiac_valve_regurgitation0.61591829
95MP0009765_abnormal_xenobiotic_induced0.58569997
96MP0001145_abnormal_male_reproductive0.58058230
97MP0006072_abnormal_retinal_apoptosis0.57792365
98MP0008004_abnormal_stomach_pH0.57434389
99MP0002452_abnormal_antigen_presenting0.57229103
100MP0005645_abnormal_hypothalamus_physiol0.57007171

Predicted human phenotypes

RankGene SetZ-score
1Volvulus (HP:0002580)4.74270290
2Reduced antithrombin III activity (HP:0001976)4.66979937
3Amyotrophic lateral sclerosis (HP:0007354)3.94564103
4Type I transferrin isoform profile (HP:0003642)3.76401072
5Dynein arm defect of respiratory motile cilia (HP:0012255)3.54412504
6Absent/shortened dynein arms (HP:0200106)3.54412504
7Abnormality of the intrinsic pathway (HP:0010989)3.49447844
8Renal cortical cysts (HP:0000803)3.18943794
9Atrophy/Degeneration involving motor neurons (HP:0007373)3.06713405
10Esophageal atresia (HP:0002032)3.06625373
11Supernumerary spleens (HP:0009799)2.96354551
12Abnormality of the preputium (HP:0100587)2.95737970
13Hypoplastic pelvis (HP:0008839)2.94485504
14Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.79835399
15Abnormal protein N-linked glycosylation (HP:0012347)2.79835399
16Abnormal protein glycosylation (HP:0012346)2.79835399
17Abnormal glycosylation (HP:0012345)2.79835399
18Acute lymphatic leukemia (HP:0006721)2.57236775
19Gastrointestinal atresia (HP:0002589)2.56075814
20True hermaphroditism (HP:0010459)2.55485782
21Abnormality of the prostate (HP:0008775)2.54324759
22Central scotoma (HP:0000603)2.53432569
23Poikiloderma (HP:0001029)2.46110900
24Abnormality of the lower motor neuron (HP:0002366)2.42459939
25Aplasia/Hypoplasia of the uvula (HP:0010293)2.42317920
26Drooling (HP:0002307)2.39284615
27Abnormality of male internal genitalia (HP:0000022)2.39140841
28Decreased central vision (HP:0007663)2.37464335
29Abnormality of placental membranes (HP:0011409)2.37003555
30Amniotic constriction ring (HP:0009775)2.37003555
31Hyperglycinemia (HP:0002154)2.34523930
32Median cleft lip (HP:0000161)2.33480786
33Pancreatic fibrosis (HP:0100732)2.33163232
34Abnormality of midbrain morphology (HP:0002418)2.32005001
35Molar tooth sign on MRI (HP:0002419)2.32005001
36Intestinal atresia (HP:0011100)2.30780777
37Abolished electroretinogram (ERG) (HP:0000550)2.30142870
38Gonadotropin excess (HP:0000837)2.27497329
39Cerebral palsy (HP:0100021)2.26250919
40Severe visual impairment (HP:0001141)2.23661452
41Absent rod-and cone-mediated responses on ERG (HP:0007688)2.23098768
42Abnormal ciliary motility (HP:0012262)2.22889775
43Xerostomia (HP:0000217)2.21916435
44Abnormality of chromosome stability (HP:0003220)2.21471082
45Meckel diverticulum (HP:0002245)2.21355965
46Abnormality of salivation (HP:0100755)2.21025389
47Excessive salivation (HP:0003781)2.20526402
48Abnormality of the ileum (HP:0001549)2.19594867
49Facial hemangioma (HP:0000329)2.18040146
50Abnormality of macular pigmentation (HP:0008002)2.17610676
51Congenital stationary night blindness (HP:0007642)2.16709688
52Hip dysplasia (HP:0001385)2.14925381
53Rhabdomyolysis (HP:0003201)2.11597102
54Preaxial hand polydactyly (HP:0001177)2.10837585
55Spinal muscular atrophy (HP:0007269)2.10756734
56Pancreatic cysts (HP:0001737)2.07465381
57Dyskinesia (HP:0100660)2.05464957
58Aplastic anemia (HP:0001915)2.03728830
59Dyschromatopsia (HP:0007641)2.03323339
60Abnormal respiratory epithelium morphology (HP:0012253)2.01509115
61Abnormal respiratory motile cilium morphology (HP:0005938)2.01509115
62Aplasia/Hypoplasia of the fovea (HP:0008060)2.00549850
63Hypoplasia of the fovea (HP:0007750)2.00549850
64Adrenal hypoplasia (HP:0000835)2.00434720
65Abnormality of the metopic suture (HP:0005556)1.98815754
66Gingival bleeding (HP:0000225)1.98346787
67Hyperglycinuria (HP:0003108)1.97774984
68Abnormality of the fovea (HP:0000493)1.95943452
69Short tibia (HP:0005736)1.90759800
70Albinism (HP:0001022)1.90646762
71Triphalangeal thumb (HP:0001199)1.90046388
72Bifid tongue (HP:0010297)1.90006630
73Myelodysplasia (HP:0002863)1.87411437
74Aplasia/Hypoplasia of the tibia (HP:0005772)1.85322799
75Osteomalacia (HP:0002749)1.83114836
76Abnormal auditory evoked potentials (HP:0006958)1.83044887
77Patchy hypopigmentation of hair (HP:0011365)1.80570907
78Degeneration of anterior horn cells (HP:0002398)1.80385443
79Abnormality of the anterior horn cell (HP:0006802)1.80385443
80Small hand (HP:0200055)1.79210519
81Proximal placement of thumb (HP:0009623)1.78793596
82Abnormal rod and cone electroretinograms (HP:0008323)1.78553943
83Pustule (HP:0200039)1.78387732
84Periodontitis (HP:0000704)1.76634102
85Abnormality of DNA repair (HP:0003254)1.76249735
86High anterior hairline (HP:0009890)1.76041027
87Anencephaly (HP:0002323)1.74926461
88White forelock (HP:0002211)1.73756060
89Inflammation of the large intestine (HP:0002037)1.73750739
90B lymphocytopenia (HP:0010976)1.72621221
91Large earlobe (HP:0009748)1.72321391
92Short 5th finger (HP:0009237)1.70366143
93Respiratory difficulties (HP:0002880)1.69780540
94Postaxial foot polydactyly (HP:0001830)1.69530326
95Aplasia/Hypoplasia of the macula (HP:0008059)1.67825651
96Prominent metopic ridge (HP:0005487)1.66185729
97Abnormality of serine family amino acid metabolism (HP:0010894)1.64673400
98Abnormality of glycine metabolism (HP:0010895)1.64673400
99Neonatal respiratory distress (HP:0002643)1.62303319
100Neurodegeneration (HP:0002180)1.61998432

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.00521511
2CDK33.35914529
3CDK192.87346940
4TNK22.33380714
5MKNK12.24370289
6VRK12.22161833
7EIF2AK32.20138872
8ERBB32.02122195
9KIT2.00421281
10CDC71.92110898
11ZAK1.76706619
12MAP4K21.76113433
13SYK1.68177608
14RPS6KA41.66110712
15IRAK21.59516197
16CAMK1D1.53849665
17TRIM281.52770797
18CSF1R1.50355664
19TNIK1.44926124
20GRK61.44462783
21MAPK71.42826018
22MKNK21.41891812
23NUAK11.38288136
24IRAK11.37649263
25PLK41.37348073
26BMPR1B1.35097471
27SRPK11.34634725
28CAMK1G1.32184415
29ACVR1B1.29276482
30MARK31.29245088
31MAPK131.28118775
32BCR1.27464680
33CSNK1G21.24328050
34CAMKK21.23137511
35BRD41.22223960
36FLT31.22017482
37MAP3K41.16979632
38ATR1.14186528
39CSNK1A1L1.04531498
40MARK11.03860864
41CDK61.02845919
42MAPK121.02198414
43DYRK30.98002584
44CSNK1G30.97585859
45ATM0.96640523
46KDR0.95657430
47BRSK20.94865321
48FES0.94849881
49WEE10.93196077
50FRK0.92616608
51MAP2K70.92548107
52MATK0.92159444
53WNK30.91979216
54EPHA40.89126481
55BMPR20.87670986
56PDK20.87605253
57CHEK20.87423262
58TEC0.87105460
59TAOK30.86545002
60CCNB10.86339980
61CASK0.86216940
62MAP3K140.85115806
63PRKD30.81017265
64CSNK1G10.80576039
65PRKCE0.78239336
66DYRK20.75554219
67PAK60.73874531
68YES10.73847407
69RPS6KA50.71049450
70IGF1R0.70648455
71PLK30.69193445
72BLK0.68287496
73VRK20.67687792
74PINK10.66573617
75BTK0.65286833
76ADRBK20.62174344
77PBK0.60921533
78NTRK20.58082638
79PIM20.57427104
80LYN0.57035112
81HCK0.56884524
82PRKDC0.52375778
83PRKCH0.50760006
84PLK20.50618379
85NME20.50168881
86MAP3K130.49923888
87AURKB0.48338256
88EIF2AK20.47609668
89RAF10.46156279
90PKN10.46032424
91CLK10.45838679
92PNCK0.44348957
93CDK20.43853659
94CAMK10.41780836
95MAP3K70.40742875
96CDK50.39410061
97PLK10.38886476
98EGFR0.38599310
99GRK70.38121944
100CSNK2A10.37814184

Predicted pathways (KEGG)

RankGene SetZ-score
1Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001305.66480797
2Asthma_Homo sapiens_hsa053104.31591831
3Allograft rejection_Homo sapiens_hsa053302.84825138
4Type I diabetes mellitus_Homo sapiens_hsa049402.50200990
5Fanconi anemia pathway_Homo sapiens_hsa034602.48335225
6Graft-versus-host disease_Homo sapiens_hsa053322.41388017
7Intestinal immune network for IgA production_Homo sapiens_hsa046722.25947461
8Autoimmune thyroid disease_Homo sapiens_hsa053202.23522331
9Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.14744490
10Regulation of autophagy_Homo sapiens_hsa041401.96795406
11Staphylococcus aureus infection_Homo sapiens_hsa051501.92483174
12Homologous recombination_Homo sapiens_hsa034401.85606511
13Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.84214934
14Leishmaniasis_Homo sapiens_hsa051401.77208764
15Propanoate metabolism_Homo sapiens_hsa006401.74606954
16Systemic lupus erythematosus_Homo sapiens_hsa053221.65218924
17Rheumatoid arthritis_Homo sapiens_hsa053231.65107446
18Pentose phosphate pathway_Homo sapiens_hsa000301.61041355
19Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.60716136
20Selenocompound metabolism_Homo sapiens_hsa004501.59746351
21Spliceosome_Homo sapiens_hsa030401.58416360
22Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.57929398
23Purine metabolism_Homo sapiens_hsa002301.54391686
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.49606643
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.49041438
26Transcriptional misregulation in cancer_Homo sapiens_hsa052021.46914160
27African trypanosomiasis_Homo sapiens_hsa051431.46508232
28Antigen processing and presentation_Homo sapiens_hsa046121.44188057
29Pyrimidine metabolism_Homo sapiens_hsa002401.41239061
30Mismatch repair_Homo sapiens_hsa034301.40734238
31Viral myocarditis_Homo sapiens_hsa054161.37470852
32DNA replication_Homo sapiens_hsa030301.36071518
33Nucleotide excision repair_Homo sapiens_hsa034201.24970530
34RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.22607204
35Non-homologous end-joining_Homo sapiens_hsa034501.20792510
36RNA transport_Homo sapiens_hsa030131.16760666
37RNA degradation_Homo sapiens_hsa030181.16133920
38Legionellosis_Homo sapiens_hsa051341.15612748
39Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.14728597
40Phototransduction_Homo sapiens_hsa047441.14338789
41Nicotine addiction_Homo sapiens_hsa050331.11425404
42Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.08243414
43Tuberculosis_Homo sapiens_hsa051521.04387864
44Protein export_Homo sapiens_hsa030600.99437960
45Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.99406976
46RNA polymerase_Homo sapiens_hsa030200.98073846
47Herpes simplex infection_Homo sapiens_hsa051680.98072774
48Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.97938321
49Glycosaminoglycan degradation_Homo sapiens_hsa005310.96769141
50Phagosome_Homo sapiens_hsa041450.93372105
51Pentose and glucuronate interconversions_Homo sapiens_hsa000400.92575156
52NOD-like receptor signaling pathway_Homo sapiens_hsa046210.89728943
53Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.88327513
54Lysosome_Homo sapiens_hsa041420.83200459
55mRNA surveillance pathway_Homo sapiens_hsa030150.81405295
56Peroxisome_Homo sapiens_hsa041460.80728455
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.77075205
58Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.74314268
59SNARE interactions in vesicular transport_Homo sapiens_hsa041300.74025483
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.74008488
61Toll-like receptor signaling pathway_Homo sapiens_hsa046200.71263154
62Base excision repair_Homo sapiens_hsa034100.71259928
63Proteasome_Homo sapiens_hsa030500.68952553
64Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.68026756
65Influenza A_Homo sapiens_hsa051640.66031207
66Salmonella infection_Homo sapiens_hsa051320.64030450
67Alcoholism_Homo sapiens_hsa050340.60886735
68Fatty acid metabolism_Homo sapiens_hsa012120.58547287
69Cell cycle_Homo sapiens_hsa041100.57821318
70Drug metabolism - other enzymes_Homo sapiens_hsa009830.56752888
71Carbon metabolism_Homo sapiens_hsa012000.54910925
72Fatty acid elongation_Homo sapiens_hsa000620.54548747
73Steroid biosynthesis_Homo sapiens_hsa001000.54058898
74Hematopoietic cell lineage_Homo sapiens_hsa046400.52405296
75Taste transduction_Homo sapiens_hsa047420.50127334
76Tryptophan metabolism_Homo sapiens_hsa003800.49934270
77Parkinsons disease_Homo sapiens_hsa050120.45196690
78Basal transcription factors_Homo sapiens_hsa030220.44967363
79Pertussis_Homo sapiens_hsa051330.44409211
80Cysteine and methionine metabolism_Homo sapiens_hsa002700.43923172
81Renin-angiotensin system_Homo sapiens_hsa046140.42385505
82Hepatitis B_Homo sapiens_hsa051610.36172702
83Toxoplasmosis_Homo sapiens_hsa051450.35748969
84Epstein-Barr virus infection_Homo sapiens_hsa051690.35524165
85Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34080597
86Shigellosis_Homo sapiens_hsa051310.33694016
87Other glycan degradation_Homo sapiens_hsa005110.32861834
88Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.32714664
89Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.30960670
90Oocyte meiosis_Homo sapiens_hsa041140.30787423
91One carbon pool by folate_Homo sapiens_hsa006700.29644355
92Aldosterone synthesis and secretion_Homo sapiens_hsa049250.27480655
93Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.27463231
94MicroRNAs in cancer_Homo sapiens_hsa052060.26998912
95N-Glycan biosynthesis_Homo sapiens_hsa005100.26824896
96Biosynthesis of amino acids_Homo sapiens_hsa012300.26262348
97Serotonergic synapse_Homo sapiens_hsa047260.26070774
98Metabolic pathways_Homo sapiens_hsa011000.25858800
99Huntingtons disease_Homo sapiens_hsa050160.22169012
100Fatty acid degradation_Homo sapiens_hsa000710.21516570

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