NBPF12

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 neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of protein localization to Golgi (GO:0072600)4.80569535
2protein targeting to Golgi (GO:0000042)4.57023919
3histone H3-K36 demethylation (GO:0070544)4.48229650
4histone H3-K4 trimethylation (GO:0080182)4.47871673
5retrograde transport, vesicle recycling within Golgi (GO:0000301)4.41082918
6maintenance of gastrointestinal epithelium (GO:0030277)4.10406256
7interkinetic nuclear migration (GO:0022027)3.90196426
8histone H3-K9 demethylation (GO:0033169)3.87874518
9drug catabolic process (GO:0042737)3.76645452
10histone H3-K9 methylation (GO:0051567)3.74147157
11histone H3-K9 modification (GO:0061647)3.60628170
12cellular response to ethanol (GO:0071361)3.57948855
13peptidyl-lysine trimethylation (GO:0018023)3.56038481
14poly(A)+ mRNA export from nucleus (GO:0016973)3.49883900
15negative regulation of translation, ncRNA-mediated (GO:0040033)3.48800038
16regulation of translation, ncRNA-mediated (GO:0045974)3.48800038
17negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.48800038
18phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.43486919
19omega-hydroxylase P450 pathway (GO:0097267)3.42529488
20protein localization to Golgi apparatus (GO:0034067)3.40899772
21histone H3-K4 methylation (GO:0051568)3.40869989
22regulation of ARF GTPase activity (GO:0032312)3.39995806
23monoubiquitinated protein deubiquitination (GO:0035520)3.34294376
24S-adenosylmethionine metabolic process (GO:0046500)3.31550213
25epithelial structure maintenance (GO:0010669)3.29811134
26histone lysine demethylation (GO:0070076)3.18941354
27histone lysine methylation (GO:0034968)3.14431824
28histone demethylation (GO:0016577)3.13680830
29positive regulation of granulocyte differentiation (GO:0030854)3.07890878
30complement activation, alternative pathway (GO:0006957)3.07046998
31exogenous drug catabolic process (GO:0042738)3.02113839
32pyrimidine nucleobase catabolic process (GO:0006208)2.99739661
33epoxygenase P450 pathway (GO:0019373)2.99005975
34Golgi to endosome transport (GO:0006895)2.92440498
35peptidyl-lysine methylation (GO:0018022)2.88224622
36N-terminal protein amino acid acetylation (GO:0006474)2.84390512
37embryonic retina morphogenesis in camera-type eye (GO:0060059)2.79820832
38negative regulation of sterol transport (GO:0032372)2.76847399
39negative regulation of cholesterol transport (GO:0032375)2.76847399
40regulation of fibrinolysis (GO:0051917)2.74874736
41regulation of protein activation cascade (GO:2000257)2.73923160
42negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.73220886
43negative regulation of cAMP-mediated signaling (GO:0043951)2.71604947
44regulation of gamma-delta T cell activation (GO:0046643)2.71197387
45histone deubiquitination (GO:0016578)2.70051406
46mannose metabolic process (GO:0006013)2.68873112
47TOR signaling (GO:0031929)2.66975525
48protein demethylation (GO:0006482)2.66945381
49protein dealkylation (GO:0008214)2.66945381
50regulation of complement activation (GO:0030449)2.66495154
51positive regulation of gamma-delta T cell activation (GO:0046645)2.63695319
52cytoplasmic mRNA processing body assembly (GO:0033962)2.63549350
53growth hormone receptor signaling pathway (GO:0060396)2.61820959
54alkaloid metabolic process (GO:0009820)2.59260953
55negative regulation of immunoglobulin mediated immune response (GO:0002890)2.57075517
56negative regulation of B cell mediated immunity (GO:0002713)2.57075517
57regulation of RNA export from nucleus (GO:0046831)2.57017253
58regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.56886036
59phospholipid efflux (GO:0033700)2.55479602
60nucleobase catabolic process (GO:0046113)2.54096112
61regulation of pigment cell differentiation (GO:0050932)2.50010477
62regulation of histone H3-K27 methylation (GO:0061085)2.49939612
63regulation of gamma-delta T cell differentiation (GO:0045586)2.47336614
64phenylpropanoid metabolic process (GO:0009698)2.45483259
65positive regulation of CREB transcription factor activity (GO:0032793)2.43880869
66oxidative demethylation (GO:0070989)2.42502233
67auditory receptor cell differentiation (GO:0042491)2.40321248
68histone H4-K16 acetylation (GO:0043984)2.39160642
69positive regulation of developmental pigmentation (GO:0048087)2.36404017
70negative thymic T cell selection (GO:0045060)2.36156293
71regulation of triglyceride catabolic process (GO:0010896)2.34567431
72negative regulation of bone resorption (GO:0045779)2.34363526
73cilium or flagellum-dependent cell motility (GO:0001539)2.34124917
74negative regulation of histone methylation (GO:0031061)2.34024778
75T-helper cell differentiation (GO:0042093)2.33791745
76CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.33791745
77nucleus localization (GO:0051647)2.31886465
78CD4-positive, alpha-beta T cell differentiation (GO:0043367)2.30617338
79negative regulation of cell killing (GO:0031342)2.30020894
80negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.30020894
81definitive hemopoiesis (GO:0060216)2.28476062
82regulation of B cell receptor signaling pathway (GO:0050855)2.26178949
83intra-Golgi vesicle-mediated transport (GO:0006891)2.25594166
84cellular response to growth hormone stimulus (GO:0071378)2.25466147
85intra-S DNA damage checkpoint (GO:0031573)2.24037915
86microtubule nucleation (GO:0007020)2.22942447
87negative regulation of fibrinolysis (GO:0051918)2.21982173
88regulation of establishment or maintenance of cell polarity (GO:0032878)2.21648803
89positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.21319918
90regulation of apoptotic cell clearance (GO:2000425)2.21029511
91activated T cell proliferation (GO:0050798)2.20479164
92T cell selection (GO:0045058)2.19799750
93negative T cell selection (GO:0043383)2.19559647
94regulation of granulocyte differentiation (GO:0030852)2.18008329
95tryptophan catabolic process (GO:0006569)2.16972619
96indole-containing compound catabolic process (GO:0042436)2.16972619
97indolalkylamine catabolic process (GO:0046218)2.16972619
98histone methylation (GO:0016571)2.15031007
99serine family amino acid catabolic process (GO:0009071)2.14545843
100B cell receptor signaling pathway (GO:0050853)2.13434010

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human2.73491648
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.34475675
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.30152289
4CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.27528310
5SALL1_21062744_ChIP-ChIP_HESCs_Human2.17152055
6ESR1_20079471_ChIP-ChIP_T-47D_Human2.16464794
7GBX2_23144817_ChIP-Seq_PC3_Human2.12009205
8ER_23166858_ChIP-Seq_MCF-7_Human2.00045790
9SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.97775699
10VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.96987149
11DROSHA_22980978_ChIP-Seq_HELA_Human1.89263763
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.87763022
13RUNX_20019798_ChIP-Seq_JUKART_Human1.82691629
14POU3F2_20337985_ChIP-ChIP_501MEL_Human1.67046933
15BCAT_22108803_ChIP-Seq_LS180_Human1.66692354
16AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.64975167
17AHR_22903824_ChIP-Seq_MCF-7_Human1.53260197
18NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.53231211
19STAT3_23295773_ChIP-Seq_U87_Human1.52871779
20TP53_16413492_ChIP-PET_HCT116_Human1.52609283
21ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.50175438
22FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.50160705
23ZFP57_27257070_Chip-Seq_ESCs_Mouse1.49948984
24EZH2_22144423_ChIP-Seq_EOC_Human1.48408071
25ZNF217_24962896_ChIP-Seq_MCF-7_Human1.45977180
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.45333482
27SMAD4_21799915_ChIP-Seq_A2780_Human1.45042718
28EGR1_19374776_ChIP-ChIP_THP-1_Human1.44667772
29AR_21572438_ChIP-Seq_LNCaP_Human1.43993503
30FUS_26573619_Chip-Seq_HEK293_Human1.42864994
31IGF1R_20145208_ChIP-Seq_DFB_Human1.42421962
32SMAD_19615063_ChIP-ChIP_OVARY_Human1.40869977
33TCF4_23295773_ChIP-Seq_U87_Human1.39949504
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39891723
35BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.37360699
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.35833397
37ARNT_22903824_ChIP-Seq_MCF-7_Human1.35540936
38WDR5_24793694_ChIP-Seq_LNCAP_Human1.34849302
39CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.34061264
40IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.32006777
41FOXA2_19822575_ChIP-Seq_HepG2_Human1.31832671
42CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.30063555
43CDX2_19796622_ChIP-Seq_MESCs_Mouse1.28660436
44CBP_20019798_ChIP-Seq_JUKART_Human1.28329184
45IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.28329184
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.27959787
47MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.26528352
48PRDM14_20953172_ChIP-Seq_ESCs_Human1.26486711
49TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.25688719
50TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25338391
51POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.25338391
52NR3C1_21868756_ChIP-Seq_MCF10A_Human1.24296370
53VDR_24787735_ChIP-Seq_THP-1_Human1.23240511
54CTBP2_25329375_ChIP-Seq_LNCAP_Human1.23054589
55ZNF274_21170338_ChIP-Seq_K562_Hela1.22580312
56EGR1_23403033_ChIP-Seq_LIVER_Mouse1.19871160
57SCL_19346495_ChIP-Seq_HPC-7_Human1.19826468
58FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.18808515
59RUNX2_22187159_ChIP-Seq_PCA_Human1.17467034
60CTNNB1_20460455_ChIP-Seq_HCT116_Human1.16457248
61TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.15385009
62GATA3_27048872_Chip-Seq_THYMUS_Human1.15149503
63TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.14342482
64IRF8_27001747_Chip-Seq_BMDM_Mouse1.13424604
65SPI1_23127762_ChIP-Seq_K562_Human1.13251260
66BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.12913435
67ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.12290958
68KDM2B_26808549_Chip-Seq_REH_Human1.12191592
69VDR_22108803_ChIP-Seq_LS180_Human1.11237125
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11121448
71AR_25329375_ChIP-Seq_VCAP_Human1.11009594
72STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.09104491
73RXR_22108803_ChIP-Seq_LS180_Human1.07040753
74GATA1_22025678_ChIP-Seq_K562_Human1.06830946
75CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.06502136
76KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.05575663
77EZH2_27294783_Chip-Seq_NPCs_Mouse1.04582627
78OCT4_21477851_ChIP-Seq_ESCs_Mouse1.04463821
79P300_19829295_ChIP-Seq_ESCs_Human1.03875966
80CDX2_22108803_ChIP-Seq_LS180_Human1.03433795
81LXR_22158963_ChIP-Seq_LIVER_Mouse1.03285443
82NANOG_18555785_Chip-Seq_ESCs_Mouse1.02938384
83GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02183350
84SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01336968
85TCF4_18268006_ChIP-ChIP_LS174T_Human1.01222092
86AR_19668381_ChIP-Seq_PC3_Human1.00317080
87PKCTHETA_26484144_Chip-Seq_BREAST_Human1.00222103
88GATA3_26560356_Chip-Seq_TH2_Human1.00044826
89FLI1_21867929_ChIP-Seq_TH2_Mouse0.99748028
90RBPJ_22232070_ChIP-Seq_NCS_Mouse0.98859022
91TAF15_26573619_Chip-Seq_HEK293_Human0.98588804
92RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.98523724
93SOX2_21211035_ChIP-Seq_LN229_Gbm0.98472666
94SMAD3_21741376_ChIP-Seq_EPCs_Human0.98242694
95MYB_26560356_Chip-Seq_TH1_Human0.96196725
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.95815296
97CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.95330449
98ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.95004143
99P53_22387025_ChIP-Seq_ESCs_Mouse0.94102393
100SUZ12_27294783_Chip-Seq_NPCs_Mouse0.92510479

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002138_abnormal_hepatobiliary_system4.05388458
2MP0003195_calcinosis3.63863873
3MP0008057_abnormal_DNA_replication3.40030266
4MP0002139_abnormal_hepatobiliary_system3.23260688
5MP0002928_abnormal_bile_duct3.01427073
6MP0000569_abnormal_digit_pigmentation2.53261756
7MP0003252_abnormal_bile_duct2.48498810
8MP0003787_abnormal_imprinting2.46301095
9MP0001986_abnormal_taste_sensitivity2.39319794
10MP0005409_darkened_coat_color2.34633921
11MP0002822_catalepsy2.24339599
12MP0006292_abnormal_olfactory_placode2.13389331
13MP0001666_abnormal_nutrient_absorption2.13154406
14MP0002009_preneoplasia2.10929429
15MP0008995_early_reproductive_senescence2.01778025
16MP0003868_abnormal_feces_composition1.94982319
17MP0003763_abnormal_thymus_physiology1.94412473
18MP0001800_abnormal_humoral_immune1.92901849
19MP0005365_abnormal_bile_salt1.81841906
20MP0001188_hyperpigmentation1.79706697
21MP0000015_abnormal_ear_pigmentation1.76274250
22MP0004264_abnormal_extraembryonic_tissu1.63455861
23MP0003172_abnormal_lysosome_physiology1.62040990
24MP0003943_abnormal_hepatobiliary_system1.61218783
25MP0005085_abnormal_gallbladder_physiolo1.53585898
26MP0004381_abnormal_hair_follicle1.53446589
27MP0001835_abnormal_antigen_presentation1.52792484
28MP0000465_gastrointestinal_hemorrhage1.48886645
29MP0005174_abnormal_tail_pigmentation1.47645554
30MP0003866_abnormal_defecation1.42705726
31MP0002163_abnormal_gland_morphology1.41968990
32MP0005646_abnormal_pituitary_gland1.41411085
33MP0005379_endocrine/exocrine_gland_phen1.38757593
34MP0008961_abnormal_basal_metabolism1.35360068
35MP0004043_abnormal_pH_regulation1.34017978
36MP0009115_abnormal_fat_cell1.31490889
37MP0000427_abnormal_hair_cycle1.30467569
38MP0001545_abnormal_hematopoietic_system1.27597747
39MP0005397_hematopoietic_system_phenotyp1.27597747
40MP0005387_immune_system_phenotype1.20742876
41MP0001790_abnormal_immune_system1.20742876
42MP0002396_abnormal_hematopoietic_system1.18948270
43MP0001851_eye_inflammation1.17586181
44MP0008004_abnormal_stomach_pH1.16304414
45MP0003890_abnormal_embryonic-extraembry1.14280604
46MP0010329_abnormal_lipoprotein_level1.13704125
47MP0010155_abnormal_intestine_physiology1.11993575
48MP0010368_abnormal_lymphatic_system1.11075591
49MP0008875_abnormal_xenobiotic_pharmacok1.07371968
50MP0005075_abnormal_melanosome_morpholog1.06341817
51MP0004808_abnormal_hematopoietic_stem1.06307226
52MP0005187_abnormal_penis_morphology1.06162328
53MP0004742_abnormal_vestibular_system1.04333080
54MP0002132_abnormal_respiratory_system1.03920617
55MP0005360_urolithiasis1.03151645
56MP0001501_abnormal_sleep_pattern1.02917564
57MP0009764_decreased_sensitivity_to1.01831186
58MP0001502_abnormal_circadian_rhythm1.01322555
59MP0002254_reproductive_system_inflammat1.01306214
60MP0001486_abnormal_startle_reflex1.00876132
61MP0002452_abnormal_antigen_presenting1.00279603
62MP0000703_abnormal_thymus_morphology1.00189111
63MP0002723_abnormal_immune_serum1.00101947
64MP0002249_abnormal_larynx_morphology0.99184033
65MP0000470_abnormal_stomach_morphology0.99052245
66MP0000685_abnormal_immune_system0.97824902
67MP0005310_abnormal_salivary_gland0.93977037
68MP0003045_fibrosis0.93468410
69MP0000631_abnormal_neuroendocrine_gland0.93432924
70MP0003121_genomic_imprinting0.92252146
71MP0001485_abnormal_pinna_reflex0.92217472
72MP0004134_abnormal_chest_morphology0.90529041
73MP0005451_abnormal_body_composition0.90454538
74MP0002398_abnormal_bone_marrow0.89038606
75MP0005408_hypopigmentation0.88788014
76MP0003879_abnormal_hair_cell0.88504821
77MP0008877_abnormal_DNA_methylation0.88145583
78MP0004883_abnormal_blood_vessel0.87917472
79MP0002166_altered_tumor_susceptibility0.87212619
80MP0002168_other_aberrant_phenotype0.85633113
81MP0005386_behavior/neurological_phenoty0.85610006
82MP0004924_abnormal_behavior0.85610006
83MP0002420_abnormal_adaptive_immunity0.85068610
84MP0003690_abnormal_glial_cell0.84367460
85MP0001819_abnormal_immune_cell0.84039704
86MP0005551_abnormal_eye_electrophysiolog0.81705225
87MP0000689_abnormal_spleen_morphology0.81497807
88MP0003436_decreased_susceptibility_to0.80510286
89MP0001873_stomach_inflammation0.78440135
90MP0000371_diluted_coat_color0.78062368
91MP0000609_abnormal_liver_physiology0.77892329
92MP0009703_decreased_birth_body0.76970889
93MP0003122_maternal_imprinting0.76684140
94MP0002405_respiratory_system_inflammati0.76114797
95MP0004947_skin_inflammation0.75518882
96MP0000383_abnormal_hair_follicle0.75373568
97MP0005448_abnormal_energy_balance0.74819022
98MP0001764_abnormal_homeostasis0.74659630
99MP0000716_abnormal_immune_system0.74204136
100MP0002876_abnormal_thyroid_physiology0.71835311

Predicted human phenotypes

RankGene SetZ-score
1Hyperventilation (HP:0002883)3.63090343
2Abnormality of the fingertips (HP:0001211)3.41312999
3Abnormality of monocarboxylic acid metabolism (HP:0010996)3.22554263
4Protruding tongue (HP:0010808)3.05617959
5Tented upper lip vermilion (HP:0010804)3.04206617
6Hyperlipoproteinemia (HP:0010980)2.99473957
7Hypochromic microcytic anemia (HP:0004840)2.95440241
8Abnormality of the nasal septum (HP:0000419)2.91409143
9Submucous cleft hard palate (HP:0000176)2.89509496
10Abnormal hair whorl (HP:0010721)2.83952451
11Abnormality of pyrimidine metabolism (HP:0004353)2.79820118
12Truncal obesity (HP:0001956)2.78579686
13Macroorchidism (HP:0000053)2.75020134
14Volvulus (HP:0002580)2.74138015
15Heterotopia (HP:0002282)2.64667199
16Febrile seizures (HP:0002373)2.60797833
17Fair hair (HP:0002286)2.55791267
18Chronic hepatic failure (HP:0100626)2.50980220
19Panhypogammaglobulinemia (HP:0003139)2.48273868
20Abnormality of incisor morphology (HP:0011063)2.41355504
21Facial hemangioma (HP:0000329)2.38672286
22Complement deficiency (HP:0004431)2.33339855
23Abnormality of the columella (HP:0009929)2.33252969
24Stomach cancer (HP:0012126)2.30667243
25Peritonitis (HP:0002586)2.28937702
26Prolonged partial thromboplastin time (HP:0003645)2.27227834
27Progressive cerebellar ataxia (HP:0002073)2.26062262
28Joint hemorrhage (HP:0005261)2.25086998
29Deep palmar crease (HP:0006191)2.23832056
30Obstructive sleep apnea (HP:0002870)2.23497094
31Deep venous thrombosis (HP:0002625)2.22250997
32Self-mutilation (HP:0000742)2.21746179
33Gastrointestinal infarctions (HP:0005244)2.19017335
34Colitis (HP:0002583)2.17143431
35Hypoplastic ischia (HP:0003175)2.15124677
36Tubulointerstitial nephritis (HP:0001970)2.12292175
37Narrow palate (HP:0000189)2.11565329
38Optic neuritis (HP:0100653)2.11406950
39Retrobulbar optic neuritis (HP:0100654)2.11406950
40Neonatal hypoglycemia (HP:0001998)2.11045058
41Broad-based gait (HP:0002136)2.10475823
42Excessive salivation (HP:0003781)2.09872957
43Abnormality of the ischium (HP:0003174)2.09599662
44Hypoplasia of the thymus (HP:0000778)2.07037151
45Glomerulonephritis (HP:0000099)2.06734417
46Drooling (HP:0002307)2.06506166
47Obsessive-compulsive behavior (HP:0000722)2.05791347
48Abnormality of the incisor (HP:0000676)2.05016033
49Vitreoretinal degeneration (HP:0000655)2.03959999
50Long eyelashes (HP:0000527)2.02552440
51Generalized hypopigmentation of hair (HP:0011358)2.02312867
52Depressed nasal tip (HP:0000437)2.01028724
53Hyperkalemia (HP:0002153)1.99539568
54Broad face (HP:0000283)1.99000658
55Impulsivity (HP:0100710)1.93757603
56Hypoplastic iliac wings (HP:0002866)1.93307695
57Blue irides (HP:0000635)1.91872323
58Acute lymphatic leukemia (HP:0006721)1.89883102
59Gaze-evoked nystagmus (HP:0000640)1.87476628
60Hypochromic anemia (HP:0001931)1.86515189
61Prominent nose (HP:0000448)1.85569553
62Sandal gap (HP:0001852)1.84859363
63Gingival bleeding (HP:0000225)1.82297189
64Inflammation of the large intestine (HP:0002037)1.82214386
65Tapered finger (HP:0001182)1.81300893
66Neoplasm of the heart (HP:0100544)1.81191257
67Thyroiditis (HP:0100646)1.79638610
68Oligodactyly (hands) (HP:0001180)1.76259190
69Abnormality of the sella turcica (HP:0002679)1.76067335
70Widely spaced teeth (HP:0000687)1.74924152
71Abnormality of the aortic arch (HP:0012303)1.74876763
72Atonic seizures (HP:0010819)1.73010780
73Spontaneous abortion (HP:0005268)1.72049694
74Intellectual disability, severe (HP:0010864)1.71305212
75Acute myeloid leukemia (HP:0004808)1.70937842
76Absent speech (HP:0001344)1.69735880
77Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.69449579
78Papillary thyroid carcinoma (HP:0002895)1.68380986
79Recurrent gram-negative bacterial infections (HP:0005420)1.68125407
80Papilledema (HP:0001085)1.66320295
81Acute hepatic failure (HP:0006554)1.66093478
82Intellectual disability, progressive (HP:0006887)1.65283558
83Genetic anticipation (HP:0003743)1.64472181
84Gastrointestinal inflammation (HP:0004386)1.64050879
85Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.64008956
86Short 4th metacarpal (HP:0010044)1.64008956
87Urethral obstruction (HP:0000796)1.62916651
88Pulmonary embolism (HP:0002204)1.61629176
89Ectopic kidney (HP:0000086)1.61362829
90Abnormal biliary tract physiology (HP:0012439)1.60114421
91Bile duct proliferation (HP:0001408)1.60114421
92Hypobetalipoproteinemia (HP:0003563)1.58853925
93Hepatoblastoma (HP:0002884)1.58782531
94Abnormality of complement system (HP:0005339)1.58626319
95Sporadic (HP:0003745)1.58494286
96Abnormal pancreas size (HP:0012094)1.58353995
97Abnormal delayed hypersensitivity skin test (HP:0002963)1.58111041
98Low anterior hairline (HP:0000294)1.57932072
99Laryngomalacia (HP:0001601)1.55619861
100Enlarged epiphyses (HP:0010580)1.51903385

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K133.39378866
2FRK3.08436057
3CASK2.72890950
4AKT32.26313211
5TAOK32.10334482
6SIK21.91335140
7SGK21.89447390
8CDK121.82856090
9NLK1.76635036
10MAP4K11.74964034
11BRD41.72874116
12BLK1.63969581
13TNK21.63804938
14STK38L1.52678781
15WNK41.51666566
16TEC1.49600631
17MAP3K141.48184167
18WNK11.44708130
19MAP3K71.44361471
20FGFR21.42200848
21CAMK1D1.38902222
22MARK31.35744456
23SGK31.33666504
24CAMK1G1.32546710
25PRPF4B1.32150403
26FGFR31.29439534
27RIPK41.26894446
28SGK2231.21010890
29SGK4941.21010890
30STK241.20693643
31TIE11.18959751
32TYK21.16943521
33TYRO31.16781740
34CHUK1.13509322
35MST1R1.08960726
36TNIK1.08304577
37PINK11.06879132
38JAK11.02673591
39MAP4K21.02036669
40SGK11.01478384
41CDC42BPA0.99153286
42MAP3K40.96992702
43IRAK10.96815367
44TRPM70.96391214
45MELK0.94684855
46BMPR1B0.92505571
47EPHA30.91030103
48PDGFRB0.87332309
49IKBKE0.85898349
50YES10.85572571
51JAK30.85441916
52MARK20.84245085
53CDK30.83857507
54NEK20.83464737
55FGFR40.81980472
56BTK0.81641042
57MAPK130.80115860
58ACVR1B0.79516235
59MAP3K100.78781808
60IRAK20.78119759
61PIK3CA0.77541845
62MAPK70.77304730
63IKBKB0.77213657
64HIPK20.74778526
65HCK0.73984550
66PRKCQ0.73636278
67PRKCH0.72706123
68ERBB20.71405514
69CAMK40.71209446
70MTOR0.70631865
71MAP3K90.70411367
72STK30.69794072
73PRKAA20.68155929
74FES0.68076367
75PDK10.64559992
76TXK0.61020989
77PAK30.60442391
78PASK0.60309170
79ICK0.60248215
80LCK0.60222413
81RET0.59127470
82NME10.58365753
83DYRK1A0.56960487
84ITK0.56484472
85RPS6KB10.56296650
86PKN20.55287072
87SYK0.54595126
88CSF1R0.53776171
89MKNK20.51781916
90JAK20.51250635
91MAPK150.51018379
92PRKD20.50492208
93MAPK10.50141949
94INSRR0.50120483
95SIK10.49173817
96STK380.46103522
97MAPK100.45945138
98MAP2K40.45676089
99NTRK30.43583716
100PRKCZ0.42330090

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046102.27248886
2Lysine degradation_Homo sapiens_hsa003101.96536301
3Staphylococcus aureus infection_Homo sapiens_hsa051501.85752017
4ABC transporters_Homo sapiens_hsa020101.84007257
5Caffeine metabolism_Homo sapiens_hsa002321.69039201
6B cell receptor signaling pathway_Homo sapiens_hsa046621.53817993
7Butanoate metabolism_Homo sapiens_hsa006501.53512110
8Maturity onset diabetes of the young_Homo sapiens_hsa049501.48842899
9Retinol metabolism_Homo sapiens_hsa008301.41392501
10Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.40604972
11Phosphatidylinositol signaling system_Homo sapiens_hsa040701.40514201
12Dorso-ventral axis formation_Homo sapiens_hsa043201.39932051
13Type II diabetes mellitus_Homo sapiens_hsa049301.33895570
14FoxO signaling pathway_Homo sapiens_hsa040681.28463759
15T cell receptor signaling pathway_Homo sapiens_hsa046601.23300584
16Notch signaling pathway_Homo sapiens_hsa043301.22612062
17Circadian rhythm_Homo sapiens_hsa047101.21818913
18Acute myeloid leukemia_Homo sapiens_hsa052211.19726151
19Choline metabolism in cancer_Homo sapiens_hsa052311.18756823
20Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.14501558
21Osteoclast differentiation_Homo sapiens_hsa043801.08632730
22Chemical carcinogenesis_Homo sapiens_hsa052041.08546151
23Inositol phosphate metabolism_Homo sapiens_hsa005621.07050782
24Prolactin signaling pathway_Homo sapiens_hsa049171.06725062
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.05816173
26Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.05527334
27Primary bile acid biosynthesis_Homo sapiens_hsa001201.04480745
28Jak-STAT signaling pathway_Homo sapiens_hsa046301.04115711
29Endometrial cancer_Homo sapiens_hsa052131.03880136
30Non-small cell lung cancer_Homo sapiens_hsa052231.03815572
31Bile secretion_Homo sapiens_hsa049761.03371269
32Insulin resistance_Homo sapiens_hsa049311.01114933
33mTOR signaling pathway_Homo sapiens_hsa041501.00531174
34Prostate cancer_Homo sapiens_hsa052150.96876881
35Primary immunodeficiency_Homo sapiens_hsa053400.95217476
36NF-kappa B signaling pathway_Homo sapiens_hsa040640.94570734
37Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.94540565
38Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.93967298
39Aldosterone synthesis and secretion_Homo sapiens_hsa049250.93609186
40ErbB signaling pathway_Homo sapiens_hsa040120.92777291
41Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.92607702
42Linoleic acid metabolism_Homo sapiens_hsa005910.90150345
43Leishmaniasis_Homo sapiens_hsa051400.86961738
44Herpes simplex infection_Homo sapiens_hsa051680.86961210
45Olfactory transduction_Homo sapiens_hsa047400.86240894
46Graft-versus-host disease_Homo sapiens_hsa053320.86022203
47Long-term potentiation_Homo sapiens_hsa047200.84917245
48Fatty acid degradation_Homo sapiens_hsa000710.84404093
49Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.82311196
50TNF signaling pathway_Homo sapiens_hsa046680.80180447
51Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79990121
52NOD-like receptor signaling pathway_Homo sapiens_hsa046210.79525680
53Influenza A_Homo sapiens_hsa051640.78066020
54Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.77412651
55AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.75749003
56Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.74626321
57Histidine metabolism_Homo sapiens_hsa003400.74141526
58Autoimmune thyroid disease_Homo sapiens_hsa053200.74008663
59GnRH signaling pathway_Homo sapiens_hsa049120.71983258
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.71924058
61Transcriptional misregulation in cancer_Homo sapiens_hsa052020.71840026
62Chronic myeloid leukemia_Homo sapiens_hsa052200.71674267
63Allograft rejection_Homo sapiens_hsa053300.71194737
64Renal cell carcinoma_Homo sapiens_hsa052110.70967808
65Type I diabetes mellitus_Homo sapiens_hsa049400.70527827
66Tryptophan metabolism_Homo sapiens_hsa003800.69501377
67Estrogen signaling pathway_Homo sapiens_hsa049150.68849566
68PPAR signaling pathway_Homo sapiens_hsa033200.68734675
69Insulin secretion_Homo sapiens_hsa049110.68369286
70Measles_Homo sapiens_hsa051620.67833410
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.66796045
72Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.66191667
73Cholinergic synapse_Homo sapiens_hsa047250.66117412
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.66068378
75Salivary secretion_Homo sapiens_hsa049700.65916740
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.65751953
77Hepatitis B_Homo sapiens_hsa051610.65715119
78Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.65182586
79Circadian entrainment_Homo sapiens_hsa047130.64864469
80Adipocytokine signaling pathway_Homo sapiens_hsa049200.64549763
81Toll-like receptor signaling pathway_Homo sapiens_hsa046200.63429999
82Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.61292485
83Intestinal immune network for IgA production_Homo sapiens_hsa046720.61212113
84Long-term depression_Homo sapiens_hsa047300.59935517
85Chemokine signaling pathway_Homo sapiens_hsa040620.59741001
86African trypanosomiasis_Homo sapiens_hsa051430.58674419
87Platelet activation_Homo sapiens_hsa046110.58224299
88mRNA surveillance pathway_Homo sapiens_hsa030150.57188157
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.55856584
90Glutamatergic synapse_Homo sapiens_hsa047240.53626790
91Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.53410590
92MAPK signaling pathway_Homo sapiens_hsa040100.52560986
93Glioma_Homo sapiens_hsa052140.52175657
94Tuberculosis_Homo sapiens_hsa051520.51187922
95Glycerolipid metabolism_Homo sapiens_hsa005610.50920527
96RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.50830307
97Hepatitis C_Homo sapiens_hsa051600.50554618
98Glucagon signaling pathway_Homo sapiens_hsa049220.48928797
99Taste transduction_Homo sapiens_hsa047420.48184214
100Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48181473

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