NBPF14

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
1detection of molecule of bacterial origin (GO:0032490)4.19365955
2cellular extravasation (GO:0045123)4.16195732
3positive regulation of gamma-delta T cell activation (GO:0046645)3.86713953
4regulation of fibroblast apoptotic process (GO:2000269)3.79806640
5neutrophil mediated immunity (GO:0002446)3.61601201
6retrograde transport, vesicle recycling within Golgi (GO:0000301)3.46606532
7macrophage activation involved in immune response (GO:0002281)3.44467457
8establishment of protein localization to Golgi (GO:0072600)3.39625217
9microglial cell activation (GO:0001774)3.37552848
10negative regulation of fibroblast apoptotic process (GO:2000270)3.37382532
11positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.35681994
12modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.26725396
13modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.26725396
14positive regulation by organism of defense response of other organism involved in symbiotic interact3.26725396
15modulation by symbiont of host immune response (GO:0052553)3.26725396
16positive regulation by symbiont of host defense response (GO:0052509)3.26725396
17modulation by symbiont of host defense response (GO:0052031)3.26725396
18protein targeting to Golgi (GO:0000042)3.24331610
19response to peptidoglycan (GO:0032494)3.22419195
20regulation of MHC class I biosynthetic process (GO:0045343)3.20445913
21neutrophil activation involved in immune response (GO:0002283)3.16736797
22detection of external biotic stimulus (GO:0098581)3.16706370
23production of molecular mediator involved in inflammatory response (GO:0002532)3.09599377
24positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.07379331
25hepatocyte apoptotic process (GO:0097284)3.05322123
26regulation of B cell receptor signaling pathway (GO:0050855)3.04421391
27detection of other organism (GO:0098543)3.02796314
28macrophage activation (GO:0042116)2.98860392
29histone H3-K4 trimethylation (GO:0080182)2.91240149
30regulation of gamma-delta T cell activation (GO:0046643)2.90122103
31detection of biotic stimulus (GO:0009595)2.88487218
32positive regulation of cellular amide metabolic process (GO:0034250)2.87625641
33pericardium development (GO:0060039)2.85663955
34cell wall macromolecule catabolic process (GO:0016998)2.81326643
35cellular response to ethanol (GO:0071361)2.79916420
36dendritic cell migration (GO:0036336)2.79710686
37negative regulation of complement activation (GO:0045916)2.78606716
38regulation of mast cell activation (GO:0033003)2.78442179
39regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.78074611
40peptidyl-lysine trimethylation (GO:0018023)2.77600765
41myeloid leukocyte mediated immunity (GO:0002444)2.74153072
42negative regulation of translation, ncRNA-mediated (GO:0040033)2.72040271
43regulation of translation, ncRNA-mediated (GO:0045974)2.72040271
44negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.72040271
45histone H3-K9 modification (GO:0061647)2.69518692
46growth hormone receptor signaling pathway (GO:0060396)2.69348368
47neutrophil activation (GO:0042119)2.68620499
48antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.68427190
49negative regulation of interleukin-12 production (GO:0032695)2.66821875
50phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.65615273
51negative regulation of granulocyte differentiation (GO:0030853)2.64244413
52positive regulation of interleukin-1 production (GO:0032732)2.60330312
53negative regulation of humoral immune response (GO:0002921)2.58502189
54detection of bacterium (GO:0016045)2.57857494
55histone H3-K36 demethylation (GO:0070544)2.57633818
56positive regulation of extracellular matrix organization (GO:1903055)2.56838740
57histone H3-K9 methylation (GO:0051567)2.56343949
58regulation of macrophage cytokine production (GO:0010935)2.56265499
59response to muramyl dipeptide (GO:0032495)2.55526335
60negative regulation of osteoblast proliferation (GO:0033689)2.53708923
61negative thymic T cell selection (GO:0045060)2.53354347
62fibroblast migration (GO:0010761)2.52444863
63positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.51603172
64myeloid cell activation involved in immune response (GO:0002275)2.48901608
65positive regulation of interleukin-1 beta production (GO:0032731)2.48591944
66regulation of mast cell activation involved in immune response (GO:0033006)2.48271458
67coronary vasculature morphogenesis (GO:0060977)2.47966219
68response to host (GO:0075136)2.47413498
69response to host defenses (GO:0052200)2.47413498
70response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.47413498
71negative regulation of interleukin-8 production (GO:0032717)2.46627137
72regulation of interferon-beta biosynthetic process (GO:0045357)2.45523273
73regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.45127348
74negative regulation of T-helper cell differentiation (GO:0045623)2.42341715
75negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.42341715
76regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.42136439
77regulation of gamma-delta T cell differentiation (GO:0045586)2.42107664
78positive regulation of transcription from RNA polymerase III promoter (GO:0045945)2.41375085
79negative regulation of cell killing (GO:0031342)2.41052140
80negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.41052140
81immunoglobulin mediated immune response (GO:0016064)2.40897332
82leukocyte aggregation (GO:0070486)2.40822158
83cell wall macromolecule metabolic process (GO:0044036)2.39548834
84regulation of mast cell degranulation (GO:0043304)2.39292784
85negative T cell selection (GO:0043383)2.38527920
86negative regulation of protein activation cascade (GO:2000258)2.37648527
87positive regulation of interleukin-1 beta secretion (GO:0050718)2.37136135
88maintenance of gastrointestinal epithelium (GO:0030277)2.36477934
89regulation of interleukin-12 biosynthetic process (GO:0045075)2.34553827
90granulocyte activation (GO:0036230)2.33248659
91positive regulation of interleukin-1 secretion (GO:0050716)2.33150595
92monoubiquitinated protein deubiquitination (GO:0035520)2.32988744
93cellular response to growth hormone stimulus (GO:0071378)2.31916186
94regulation of B cell differentiation (GO:0045577)2.31892691
95protein localization to Golgi apparatus (GO:0034067)2.31261655
96response to laminar fluid shear stress (GO:0034616)2.29141412
97antigen processing and presentation of endogenous antigen (GO:0019883)2.28561454
98germinal center formation (GO:0002467)2.28472063
99response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.27698994
100response to host immune response (GO:0052572)2.27698994

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.00246847
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.68782302
3SMAD_19615063_ChIP-ChIP_OVARY_Human3.32508196
4* ESR1_20079471_ChIP-ChIP_T-47D_Human2.93534084
5CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.72950333
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.68360472
7IRF8_21731497_ChIP-ChIP_J774_Mouse2.33596865
8STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.13766913
9TP53_16413492_ChIP-PET_HCT116_Human2.11668235
10Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.07113957
11IRF8_27001747_Chip-Seq_BMDM_Mouse2.06895188
12VDR_24787735_ChIP-Seq_THP-1_Human1.95898065
13BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.90807526
14AHR_22903824_ChIP-Seq_MCF-7_Human1.90794571
15SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.82317707
16MYB_21317192_ChIP-Seq_ERMYB_Mouse1.81736574
17ZNF217_24962896_ChIP-Seq_MCF-7_Human1.81277916
18RUNX_20019798_ChIP-Seq_JUKART_Human1.80267599
19CJUN_26792858_Chip-Seq_BT549_Human1.79658952
20CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.77172824
21SALL1_21062744_ChIP-ChIP_HESCs_Human1.71801085
22IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.69288036
23* ER_23166858_ChIP-Seq_MCF-7_Human1.67237825
24CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.64772384
25AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.62403639
26IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.60336912
27BRD4_25478319_ChIP-Seq_HGPS_Human1.58335796
28VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.57225848
29MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.55965025
30NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.55475765
31CDX2_19796622_ChIP-Seq_MESCs_Mouse1.54908563
32GATA2_21666600_ChIP-Seq_HMVEC_Human1.54068763
33PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.53416239
34RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.50598103
35STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.49166849
36ARNT_22903824_ChIP-Seq_MCF-7_Human1.48373253
37FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.47305051
38TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.46869765
39SPI1_23127762_ChIP-Seq_K562_Human1.45675911
40PIAS1_25552417_ChIP-Seq_VCAP_Human1.43331252
41AR_21572438_ChIP-Seq_LNCaP_Human1.39926062
42SCL_19346495_ChIP-Seq_HPC-7_Human1.37341299
43GBX2_23144817_ChIP-Seq_PC3_Human1.36736123
44RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.34345872
45FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.33768257
46ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.33675468
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.27955566
48SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.26677841
49PPAR_26484153_Chip-Seq_NCI-H1993_Human1.26663251
50ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.21990606
51BCAT_22108803_ChIP-Seq_LS180_Human1.21325476
52SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.21137988
53SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.21137988
54BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.20109637
55JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.19916612
56FOXM1_26456572_ChIP-Seq_MCF-7_Human1.18473704
57NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.18456136
58GATA3_26560356_Chip-Seq_TH2_Human1.17398481
59CTNNB1_20460455_ChIP-Seq_HCT116_Human1.16132028
60CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.15664138
61MYB_26560356_Chip-Seq_TH2_Human1.15624412
62STAT6_21828071_ChIP-Seq_BEAS2B_Human1.13989672
63NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.13340693
64NRF2_20460467_ChIP-Seq_MEFs_Mouse1.13340693
65NR3C1_21868756_ChIP-Seq_MCF10A_Human1.13096875
66BP1_19119308_ChIP-ChIP_Hs578T_Human1.12643280
67STAT3_23295773_ChIP-Seq_U87_Human1.12459824
68RXR_22108803_ChIP-Seq_LS180_Human1.11316495
69EZH2_27294783_Chip-Seq_NPCs_Mouse1.10936048
70FOXO3_23340844_ChIP-Seq_DLD1_Human1.10835572
71TP63_23658742_ChIP-Seq_EP156T_Human1.09390470
72SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08845754
73ESR1_21235772_ChIP-Seq_MCF-7_Human1.08834112
74NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.08770895
75POU3F2_20337985_ChIP-ChIP_501MEL_Human1.08589533
76SMAD4_21799915_ChIP-Seq_A2780_Human1.08368743
77PCGF2_27294783_Chip-Seq_NPCs_Mouse1.06954464
78SPI1_23547873_ChIP-Seq_NB4_Human1.06211142
79GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.05109210
80CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.04766923
81TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03946052
82POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03946052
83ZFP57_27257070_Chip-Seq_ESCs_Mouse1.02951867
84SOX9_24532713_ChIP-Seq_HFSC_Mouse1.02189507
85TCF4_18268006_ChIP-ChIP_LS174T_Human1.00758168
86TP53_18474530_ChIP-ChIP_U2OS_Human0.99294918
87ESR2_21235772_ChIP-Seq_MCF-7_Human0.98859027
88TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97944468
89CDX2_22108803_ChIP-Seq_LS180_Human0.97714279
90TAF15_26573619_Chip-Seq_HEK293_Human0.97706749
91NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.97573413
92JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94672782
93MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.93932991
94NFE2_27457419_Chip-Seq_LIVER_Mouse0.93400677
95OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93352400
96MYB_26560356_Chip-Seq_TH1_Human0.92602175
97RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.91960458
98TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91370631
99OCT4_21477851_ChIP-Seq_ESCs_Mouse0.90466794
100CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.90095747

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane3.78977150
2MP0000569_abnormal_digit_pigmentation3.53828879
3MP0001835_abnormal_antigen_presentation3.24471537
4MP0003828_pulmonary_edema2.82607837
5MP0003724_increased_susceptibility_to2.78649093
6MP0008438_abnormal_cutaneous_collagen2.59070457
7MP0004883_abnormal_blood_vessel2.41870885
8MP0005275_abnormal_skin_tensile2.24466699
9MP0006054_spinal_hemorrhage2.16591023
10MP0005164_abnormal_response_to1.96426007
11MP0002419_abnormal_innate_immunity1.94981469
12MP0005257_abnormal_intraocular_pressure1.90246395
13MP0001958_emphysema1.88822957
14MP0003303_peritoneal_inflammation1.84867928
15MP0003436_decreased_susceptibility_to1.81961314
16MP0004381_abnormal_hair_follicle1.81740264
17MP0008004_abnormal_stomach_pH1.79650636
18MP0001800_abnormal_humoral_immune1.75596276
19MP0003300_gastrointestinal_ulcer1.70911853
20MP0000383_abnormal_hair_follicle1.69402489
21MP0001853_heart_inflammation1.66935716
22MP0005171_absent_coat_pigmentation1.65376793
23MP0005310_abnormal_salivary_gland1.65342124
24MP0000685_abnormal_immune_system1.64881446
25MP0003091_abnormal_cell_migration1.64289407
26MP0002452_abnormal_antigen_presenting1.59862239
27MP0003705_abnormal_hypodermis_morpholog1.56686089
28MP0005408_hypopigmentation1.54807331
29MP0008057_abnormal_DNA_replication1.54345308
30MP0000015_abnormal_ear_pigmentation1.54153429
31MP0005174_abnormal_tail_pigmentation1.52640350
32MP0002723_abnormal_immune_serum1.50934931
33MP0002396_abnormal_hematopoietic_system1.50405194
34MP0006082_CNS_inflammation1.48229241
35MP0000371_diluted_coat_color1.47600787
36MP0002405_respiratory_system_inflammati1.43841160
37MP0009785_altered_susceptibility_to1.43335045
38MP0005025_abnormal_response_to1.40233281
39MP0003279_aneurysm1.38762582
40MP0003045_fibrosis1.37899041
41MP0010678_abnormal_skin_adnexa1.37819737
42MP0005000_abnormal_immune_tolerance1.35652137
43MP0000465_gastrointestinal_hemorrhage1.35306681
44MP0005409_darkened_coat_color1.34507159
45MP0008260_abnormal_autophagy1.34132428
46MP0002168_other_aberrant_phenotype1.30234633
47MP0001851_eye_inflammation1.28919384
48MP0000427_abnormal_hair_cycle1.28360909
49MP0005503_abnormal_tendon_morphology1.28039782
50MP0002420_abnormal_adaptive_immunity1.27907077
51MP0005248_abnormal_Harderian_gland1.27059183
52MP0009764_decreased_sensitivity_to1.26696858
53MP0001819_abnormal_immune_cell1.26386933
54MP0001545_abnormal_hematopoietic_system1.25696935
55MP0005397_hematopoietic_system_phenotyp1.25696935
56MP0003191_abnormal_cellular_cholesterol1.23089108
57MP0001790_abnormal_immune_system1.21663149
58MP0005387_immune_system_phenotype1.21663149
59MP0002166_altered_tumor_susceptibility1.21165804
60MP0004808_abnormal_hematopoietic_stem1.19776239
61MP0000767_abnormal_smooth_muscle1.19746366
62MP0006292_abnormal_olfactory_placode1.18718414
63MP0003656_abnormal_erythrocyte_physiolo1.16744873
64MP0002928_abnormal_bile_duct1.16708716
65MP0002148_abnormal_hypersensitivity_rea1.16026590
66MP0003763_abnormal_thymus_physiology1.15332573
67MP0003172_abnormal_lysosome_physiology1.14055100
68MP0004947_skin_inflammation1.07525109
69MP0001533_abnormal_skeleton_physiology1.06908369
70MP0002282_abnormal_trachea_morphology1.05087633
71MP0010155_abnormal_intestine_physiology1.05079474
72MP0005076_abnormal_cell_differentiation1.03889448
73MP0003252_abnormal_bile_duct1.03807502
74MP0000372_irregular_coat_pigmentation1.03589181
75MP0002998_abnormal_bone_remodeling1.01541886
76MP0000249_abnormal_blood_vessel0.97973357
77MP0000716_abnormal_immune_system0.96330738
78MP0005388_respiratory_system_phenotype0.94285585
79MP0002133_abnormal_respiratory_system0.94285585
80MP0002060_abnormal_skin_morphology0.93867077
81MP0002095_abnormal_skin_pigmentation0.93851111
82MP0002398_abnormal_bone_marrow0.89419559
83MP0004043_abnormal_pH_regulation0.87279505
84MP0001845_abnormal_inflammatory_respons0.85493599
85MP0003183_abnormal_peptide_metabolism0.84539565
86MP0004484_altered_response_of0.84297047
87MP0005023_abnormal_wound_healing0.84034771
88MP0008961_abnormal_basal_metabolism0.83432859
89MP0002098_abnormal_vibrissa_morphology0.82739679
90MP0000613_abnormal_salivary_gland0.79269305
91MP0001324_abnormal_eye_pigmentation0.78268301
92MP0005595_abnormal_vascular_smooth0.78060593
93MP0002075_abnormal_coat/hair_pigmentati0.77282940
94MP0003866_abnormal_defecation0.76829454
95MP0005075_abnormal_melanosome_morpholog0.76224461
96MP0003646_muscle_fatigue0.74799036
97MP0002006_tumorigenesis0.73084726
98MP0005390_skeleton_phenotype0.72275119
99MP0005671_abnormal_response_to0.69743293
100MP0005464_abnormal_platelet_physiology0.69384395

Predicted human phenotypes

RankGene SetZ-score
1Absent frontal sinuses (HP:0002688)4.49670527
2Spondylolisthesis (HP:0003302)3.84953023
3Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)3.60696882
4Peritonitis (HP:0002586)3.29607817
5Recurrent abscess formation (HP:0002722)3.06754670
6Recurrent bacterial skin infections (HP:0005406)2.94723609
7Abnormality of the frontal sinuses (HP:0002687)2.91074553
8Retrobulbar optic neuritis (HP:0100654)2.88764029
9Optic neuritis (HP:0100653)2.88764029
10Aortic aneurysm (HP:0004942)2.87134188
11Aortic dissection (HP:0002647)2.85700520
12Abnormality of incisor morphology (HP:0011063)2.80015602
13Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.78422885
14Orchitis (HP:0100796)2.75217266
15Myositis (HP:0100614)2.66967202
16Recurrent fungal infections (HP:0002841)2.66107432
17Hypoplastic ischia (HP:0003175)2.64515480
18Syringomyelia (HP:0003396)2.62192853
19Spinal cord lesions (HP:0100561)2.62192853
20Follicular hyperkeratosis (HP:0007502)2.59057868
21Narrow palate (HP:0000189)2.57833440
22Eczematoid dermatitis (HP:0000976)2.56373936
23Abnormality of the ischium (HP:0003174)2.45396343
24Chronic mucocutaneous candidiasis (HP:0002728)2.43752329
25Recurrent cutaneous fungal infections (HP:0011370)2.43752329
26Toxemia of pregnancy (HP:0100603)2.41662179
27Abnormality of the fingertips (HP:0001211)2.34309770
28Periodontitis (HP:0000704)2.32362949
29Pulmonary artery stenosis (HP:0004415)2.31838995
30Recurrent gram-negative bacterial infections (HP:0005420)2.31737898
31Stomach cancer (HP:0012126)2.30452257
32Arterial tortuosity (HP:0005116)2.26510889
33Keratoconus (HP:0000563)2.25899671
34Increased corneal curvature (HP:0100692)2.25899671
35Neonatal short-limb short stature (HP:0008921)2.24694917
36Vitreoretinal degeneration (HP:0000655)2.23817673
37Hypoplasia of the iris (HP:0007676)2.23264335
38Elevated erythrocyte sedimentation rate (HP:0003565)2.22987948
39Abnormality of the nasal septum (HP:0000419)2.22891100
40Subacute progressive viral hepatitis (HP:0006572)2.19758898
41Recurrent skin infections (HP:0001581)2.19149141
42Gastrointestinal infarctions (HP:0005244)2.18365652
43Vascular tortuosity (HP:0004948)2.18171315
44Abnormal delayed hypersensitivity skin test (HP:0002963)2.17106437
45Long eyelashes (HP:0000527)2.17057797
46Hypoplastic iliac wings (HP:0002866)2.16285242
47Eosinophilia (HP:0001880)2.11882206
48Infantile muscular hypotonia (HP:0008947)2.09026626
49Widely spaced teeth (HP:0000687)2.07974408
50Dislocated radial head (HP:0003083)2.07273748
51Cerebral aneurysm (HP:0004944)2.05725015
52Gingival bleeding (HP:0000225)2.03043656
53Pulmonary infiltrates (HP:0002113)2.01974954
54Leukocytosis (HP:0001974)1.95983167
55Mitral stenosis (HP:0001718)1.95981145
56Osteolytic defects of the phalanges of the hand (HP:0009771)1.95245583
57Osteolytic defects of the hand bones (HP:0009699)1.95245583
58Keratoconjunctivitis sicca (HP:0001097)1.95105015
59Abnormality of the radial head (HP:0003995)1.93988434
60Acute myeloid leukemia (HP:0004808)1.93362334
61Hemoptysis (HP:0002105)1.92531265
62Viral hepatitis (HP:0006562)1.89327302
63Polygenic inheritance (HP:0010982)1.88864176
64Recurrent viral infections (HP:0004429)1.88563152
65Coarse hair (HP:0002208)1.87153846
66Aortic regurgitation (HP:0001659)1.84982816
67Stomatitis (HP:0010280)1.84439664
68Ocular albinism (HP:0001107)1.83932565
69Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.82491348
70Hyperventilation (HP:0002883)1.81806001
71Tented upper lip vermilion (HP:0010804)1.80638975
72Tibial bowing (HP:0002982)1.79338276
73Keratoconjunctivitis (HP:0001096)1.79043813
74Papillary thyroid carcinoma (HP:0002895)1.78940552
75Pustule (HP:0200039)1.77763825
76Granulocytopenia (HP:0001913)1.77620208
77Prolonged bleeding time (HP:0003010)1.74672404
78Hemiplegia (HP:0002301)1.74157286
79Long clavicles (HP:0000890)1.73506516
80Wide anterior fontanel (HP:0000260)1.72322756
81Gingivitis (HP:0000230)1.71392760
82Abnormality of T cell number (HP:0011839)1.70565246
83Abnormality of macrophages (HP:0004311)1.70202287
84Prominent nose (HP:0000448)1.69804408
85Chest pain (HP:0100749)1.68974183
86Low anterior hairline (HP:0000294)1.68351341
87Concave nail (HP:0001598)1.66843134
88Abnormality of skull ossification (HP:0002703)1.66341364
89Biconcave vertebral bodies (HP:0004586)1.65376586
90Mitral valve prolapse (HP:0001634)1.65265833
91Fibular hypoplasia (HP:0003038)1.64601271
92T lymphocytopenia (HP:0005403)1.64325569
93Panhypogammaglobulinemia (HP:0003139)1.64131280
94Lip pit (HP:0100267)1.64072226
95Decreased skull ossification (HP:0004331)1.63963205
96Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.63778373
97Soft skin (HP:0000977)1.62725877
98Depressed nasal tip (HP:0000437)1.61997079
99Abnormality of the peritoneum (HP:0002585)1.60496289
100Vasculitis (HP:0002633)1.60334347

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK2.95740550
2FRK2.63672560
3TAOK32.56167244
4TYK22.47699233
5RIPK42.01163655
6BMPR21.97040514
7PIK3CG1.96295393
8MAP3K31.95672546
9KIT1.82060200
10PTK2B1.75705366
11IKBKE1.69341452
12MST1R1.68004107
13CSK1.65622926
14JAK11.60948369
15IRAK41.57065068
16MARK31.53406402
17MAP2K31.53378854
18MAP3K141.50352172
19CAMK1G1.50272630
20PDGFRB1.46898142
21STK241.45388634
22CDK121.45311755
23TGFBR21.43650103
24MAP3K131.39742372
25FES1.39735470
26CAMK1D1.37877057
27STK38L1.37787046
28TRPM71.37714641
29ERBB21.36851167
30IRAK11.35450104
31JAK31.34680135
32WNK11.30157311
33TEC1.28877129
34CSF1R1.28867427
35HCK1.27533714
36ZAP701.26470942
37IKBKB1.24523041
38MUSK1.24503340
39BRD41.23103568
40SGK21.22260662
41EPHB11.19733734
42MAPK71.13641531
43FGFR21.11018363
44SGK31.10886207
45AKT31.07910618
46BTK1.06302116
47PIK3CA1.03940454
48CCNB11.02024674
49FLT31.01920411
50FER1.00108443
51DDR20.98329772
52MELK0.94628754
53SYK0.91598571
54BRSK20.90902465
55PRKD20.90782610
56STK390.90762482
57CHUK0.90681375
58MAP3K70.89575956
59STK30.89048909
60TNK20.88244692
61TXK0.87497110
62PNCK0.87032566
63CDC42BPA0.85790092
64MET0.84355004
65JAK20.84346319
66NUAK10.83631314
67PAK30.82399006
68MARK20.81402127
69FGFR30.78148127
70NLK0.77907899
71GRK70.76747290
72FGR0.75971617
73MAP4K10.72206121
74LCK0.71837892
75GRK60.71340220
76LATS10.69621401
77LYN0.69601769
78PRKAA20.69150156
79MAP3K20.68732823
80ITK0.67942719
81NEK60.66929086
82STK100.66809687
83MAPK150.65735810
84SIK30.64821483
85BMPR1B0.64397892
86IRAK30.62025382
87YES10.61300336
88IRAK20.61125887
89ROCK10.60509799
90ABL10.60114934
91TAOK10.56991809
92HIPK20.56892961
93PRKCQ0.56663200
94STK380.54623673
95PKN10.53669900
96EPHA30.52916430
97MTOR0.52237354
98TBK10.50645022
99MAP3K10.46499503
100LRRK20.45370737

Predicted pathways (KEGG)

RankGene SetZ-score
1Dorso-ventral axis formation_Homo sapiens_hsa043202.61021215
2Leishmaniasis_Homo sapiens_hsa051402.53004880
3Staphylococcus aureus infection_Homo sapiens_hsa051502.46216578
4Osteoclast differentiation_Homo sapiens_hsa043802.27090429
5Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.05503083
6Graft-versus-host disease_Homo sapiens_hsa053321.90121288
7Allograft rejection_Homo sapiens_hsa053301.78005257
8NOD-like receptor signaling pathway_Homo sapiens_hsa046211.76510074
9Autoimmune thyroid disease_Homo sapiens_hsa053201.69785155
10Asthma_Homo sapiens_hsa053101.67528972
11Tuberculosis_Homo sapiens_hsa051521.65941506
12Toxoplasmosis_Homo sapiens_hsa051451.63417785
13Malaria_Homo sapiens_hsa051441.57266113
14NF-kappa B signaling pathway_Homo sapiens_hsa040641.49657846
15Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.47452636
16Influenza A_Homo sapiens_hsa051641.45562147
17B cell receptor signaling pathway_Homo sapiens_hsa046621.43020122
18Jak-STAT signaling pathway_Homo sapiens_hsa046301.40094794
19TNF signaling pathway_Homo sapiens_hsa046681.38235314
20Legionellosis_Homo sapiens_hsa051341.36867687
21Intestinal immune network for IgA production_Homo sapiens_hsa046721.35470566
22Toll-like receptor signaling pathway_Homo sapiens_hsa046201.35332104
23AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.33426348
24Platelet activation_Homo sapiens_hsa046111.30357141
25Notch signaling pathway_Homo sapiens_hsa043301.25933406
26Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.25875453
27Measles_Homo sapiens_hsa051621.25127577
28Hematopoietic cell lineage_Homo sapiens_hsa046401.18382985
29Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.18140596
30Amoebiasis_Homo sapiens_hsa051461.16947024
31RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.15286608
32T cell receptor signaling pathway_Homo sapiens_hsa046601.14415686
33Lysine degradation_Homo sapiens_hsa003101.09842000
34Viral myocarditis_Homo sapiens_hsa054161.09455414
35Antigen processing and presentation_Homo sapiens_hsa046121.09181893
36Hepatitis B_Homo sapiens_hsa051611.05734725
37Acute myeloid leukemia_Homo sapiens_hsa052211.04459323
38Non-small cell lung cancer_Homo sapiens_hsa052231.03083405
39Herpes simplex infection_Homo sapiens_hsa051681.02595919
40Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.02450108
41Chemokine signaling pathway_Homo sapiens_hsa040620.98449490
42Renal cell carcinoma_Homo sapiens_hsa052110.97985621
43FoxO signaling pathway_Homo sapiens_hsa040680.97287518
44Chronic myeloid leukemia_Homo sapiens_hsa052200.95131586
45Prostate cancer_Homo sapiens_hsa052150.93929353
46Focal adhesion_Homo sapiens_hsa045100.93340467
47Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.92051721
48ECM-receptor interaction_Homo sapiens_hsa045120.91117598
49Phosphatidylinositol signaling system_Homo sapiens_hsa040700.90379828
50Inositol phosphate metabolism_Homo sapiens_hsa005620.89840917
51Leukocyte transendothelial migration_Homo sapiens_hsa046700.89321204
52Type I diabetes mellitus_Homo sapiens_hsa049400.87261995
53Pertussis_Homo sapiens_hsa051330.86767990
54Glycosaminoglycan degradation_Homo sapiens_hsa005310.86549797
55Complement and coagulation cascades_Homo sapiens_hsa046100.85405786
56African trypanosomiasis_Homo sapiens_hsa051430.84915820
57Pancreatic cancer_Homo sapiens_hsa052120.84301758
58MicroRNAs in cancer_Homo sapiens_hsa052060.82682042
59Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81662976
60Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.81295796
61Endometrial cancer_Homo sapiens_hsa052130.80160609
62Other glycan degradation_Homo sapiens_hsa005110.80152222
63Rheumatoid arthritis_Homo sapiens_hsa053230.80112868
64Choline metabolism in cancer_Homo sapiens_hsa052310.78815126
65Small cell lung cancer_Homo sapiens_hsa052220.78562108
66Phagosome_Homo sapiens_hsa041450.78129608
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.77153967
68Transcriptional misregulation in cancer_Homo sapiens_hsa052020.75173159
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.74101403
70Proteoglycans in cancer_Homo sapiens_hsa052050.73963133
71Hepatitis C_Homo sapiens_hsa051600.73872816
72Prolactin signaling pathway_Homo sapiens_hsa049170.71266434
73Regulation of actin cytoskeleton_Homo sapiens_hsa048100.69062996
74Apoptosis_Homo sapiens_hsa042100.64620943
75Neurotrophin signaling pathway_Homo sapiens_hsa047220.64547937
76ABC transporters_Homo sapiens_hsa020100.63785527
77Primary immunodeficiency_Homo sapiens_hsa053400.63245053
78Adherens junction_Homo sapiens_hsa045200.62126243
79Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61279778
80ErbB signaling pathway_Homo sapiens_hsa040120.60776368
81TGF-beta signaling pathway_Homo sapiens_hsa043500.59758837
82Lysosome_Homo sapiens_hsa041420.59663952
83Nitrogen metabolism_Homo sapiens_hsa009100.56659352
84Salivary secretion_Homo sapiens_hsa049700.56269744
85HTLV-I infection_Homo sapiens_hsa051660.54256895
86Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.53767136
87Colorectal cancer_Homo sapiens_hsa052100.52851951
88Pathways in cancer_Homo sapiens_hsa052000.52274627
89mTOR signaling pathway_Homo sapiens_hsa041500.51952024
90Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51797552
91Circadian rhythm_Homo sapiens_hsa047100.50102992
92Vascular smooth muscle contraction_Homo sapiens_hsa042700.49899604
93MAPK signaling pathway_Homo sapiens_hsa040100.48429551
94Estrogen signaling pathway_Homo sapiens_hsa049150.46654901
95Insulin resistance_Homo sapiens_hsa049310.46105853
96Glioma_Homo sapiens_hsa052140.45837038
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45421649
98HIF-1 signaling pathway_Homo sapiens_hsa040660.43632429
99Salmonella infection_Homo sapiens_hsa051320.43506625
100VEGF signaling pathway_Homo sapiens_hsa043700.43486705

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