NBPF15

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
1pericardium development (GO:0060039)3.85653005
2sequestering of extracellular ligand from receptor (GO:0035581)3.84517633
3mannose metabolic process (GO:0006013)3.35381693
4cell adhesion mediated by integrin (GO:0033627)3.32209656
5positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.29293457
6collagen fibril organization (GO:0030199)3.25567105
7fibroblast migration (GO:0010761)3.23603666
8histone H3-K4 trimethylation (GO:0080182)3.11554622
9skin morphogenesis (GO:0043589)3.08002851
10glomerular basement membrane development (GO:0032836)3.07518786
11phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.03842555
12negative regulation of activin receptor signaling pathway (GO:0032926)3.03369103
13positive regulation of blood vessel endothelial cell migration (GO:0043536)3.03283869
14protein targeting to Golgi (GO:0000042)3.03259841
15establishment of protein localization to Golgi (GO:0072600)3.01266616
16insulin-like growth factor receptor signaling pathway (GO:0048009)2.98639610
17regulation of ARF GTPase activity (GO:0032312)2.98229920
18metanephric mesenchyme development (GO:0072075)2.91650302
19kidney mesenchyme development (GO:0072074)2.89913104
20retrograde transport, vesicle recycling within Golgi (GO:0000301)2.89128344
21coronary vasculature morphogenesis (GO:0060977)2.87125091
22vascular endothelial growth factor signaling pathway (GO:0038084)2.87025364
23hemidesmosome assembly (GO:0031581)2.85992497
24COPII vesicle coating (GO:0048208)2.83064410
25regulation of endothelial cell chemotaxis (GO:2001026)2.82730090
26negative regulation of axon extension involved in axon guidance (GO:0048843)2.81649225
27negative regulation of fatty acid transport (GO:2000192)2.81063349
28substrate-dependent cell migration (GO:0006929)2.78992414
29chondrocyte development (GO:0002063)2.77928704
30bone trabecula formation (GO:0060346)2.75617880
31cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.75322744
32regulation of fatty acid beta-oxidation (GO:0031998)2.72348033
33regulation of histone H3-K27 methylation (GO:0061085)2.70622250
34basement membrane organization (GO:0071711)2.65498689
35endocardial cushion development (GO:0003197)2.62866757
36embryonic camera-type eye morphogenesis (GO:0048596)2.61815591
37negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.56438466
38regulation of axon extension involved in axon guidance (GO:0048841)2.56084570
39regulation of extracellular matrix disassembly (GO:0010715)2.50829952
40atrioventricular valve morphogenesis (GO:0003181)2.49800115
41face morphogenesis (GO:0060325)2.49317952
42retrograde transport, endosome to Golgi (GO:0042147)2.47536070
43macroautophagy (GO:0016236)2.47301193
44head development (GO:0060322)2.46285725
45cell-substrate junction assembly (GO:0007044)2.46093479
46hypotonic response (GO:0006971)2.45979879
47histone H3-K36 demethylation (GO:0070544)2.45545095
48COPI coating of Golgi vesicle (GO:0048205)2.45400184
49Golgi transport vesicle coating (GO:0048200)2.45400184
50regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.45328240
51peptidyl-lysine trimethylation (GO:0018023)2.43077853
52negative regulation of cell size (GO:0045792)2.40791397
53negative regulation of complement activation (GO:0045916)2.40573781
54dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.39889590
55protein heterotrimerization (GO:0070208)2.38686912
56embryonic foregut morphogenesis (GO:0048617)2.36533877
57antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.34723372
58type B pancreatic cell proliferation (GO:0044342)2.34531288
59embryonic eye morphogenesis (GO:0048048)2.33972296
60negative regulation of protein activation cascade (GO:2000258)2.33501086
61peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.33338675
62antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.32773351
63platelet-derived growth factor receptor signaling pathway (GO:0048008)2.32258597
64intra-Golgi vesicle-mediated transport (GO:0006891)2.32192237
65regulation of plasminogen activation (GO:0010755)2.31166107
66regulation of hippo signaling (GO:0035330)2.30983229
67smooth muscle tissue development (GO:0048745)2.30236116
68negative regulation of osteoblast proliferation (GO:0033689)2.29432530
69retina vasculature morphogenesis in camera-type eye (GO:0061299)2.29378915
70endothelial cell chemotaxis (GO:0035767)2.28845089
71regulation of neuroblast proliferation (GO:1902692)2.28026561
72regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.26858865
73histone H3-K9 demethylation (GO:0033169)2.26692528
74cell-substrate adherens junction assembly (GO:0007045)2.26430751
75focal adhesion assembly (GO:0048041)2.26430751
76semaphorin-plexin signaling pathway (GO:0071526)2.26220320
77negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.24205191
78histone deubiquitination (GO:0016578)2.23979679
79facial nerve structural organization (GO:0021612)2.23607775
80negative regulation of axon guidance (GO:1902668)2.23549474
81atrial septum morphogenesis (GO:0060413)2.22597817
82endodermal cell differentiation (GO:0035987)2.22474927
83peptidyl-lysine methylation (GO:0018022)2.22159185
84protein localization to Golgi apparatus (GO:0034067)2.21851522
85regulation of axon guidance (GO:1902667)2.21498220
86gland morphogenesis (GO:0022612)2.21176441
87activation of Rac GTPase activity (GO:0032863)2.21099716
88negative regulation of chondrocyte differentiation (GO:0032331)2.20126634
89negative regulation of fibrinolysis (GO:0051918)2.19848376
90negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.18987121
91negative regulation of cell killing (GO:0031342)2.18987121
92growth hormone receptor signaling pathway (GO:0060396)2.18399168
93Golgi organization (GO:0007030)2.16964897
94vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.16869840
95heart valve morphogenesis (GO:0003179)2.16781511
96mammary gland development (GO:0030879)2.16480545
97adherens junction assembly (GO:0034333)2.15247140
98extracellular negative regulation of signal transduction (GO:1900116)2.14843300
99extracellular regulation of signal transduction (GO:1900115)2.14843300
100protein localization to endosome (GO:0036010)2.11934938

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SMAD_19615063_ChIP-ChIP_OVARY_Human4.19047190
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.90852741
3* ESR1_20079471_ChIP-ChIP_T-47D_Human3.54530501
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.30284659
5BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.29568435
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.72847738
7AHR_22903824_ChIP-Seq_MCF-7_Human2.48237952
8CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.39860635
9ZNF217_24962896_ChIP-Seq_MCF-7_Human2.36041108
10STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.34494027
11BRD4_25478319_ChIP-Seq_HGPS_Human2.12273826
12TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.07178426
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.04928824
14* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.04752343
15* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.04752343
16HIF1A_21447827_ChIP-Seq_MCF-7_Human1.99795738
17TP53_16413492_ChIP-PET_HCT116_Human1.99058873
18CJUN_26792858_Chip-Seq_BT549_Human1.98206997
19CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.98126700
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.97101056
21ARNT_22903824_ChIP-Seq_MCF-7_Human1.96765390
22WT1_19549856_ChIP-ChIP_CCG9911_Human1.90801460
23ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.90677008
24NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.88982388
25GATA2_21666600_ChIP-Seq_HMVEC_Human1.85062338
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.82950584
27TRIM28_21343339_ChIP-Seq_HEK293_Human1.77143127
28KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.73606026
29WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.63573485
30SOX9_24532713_ChIP-Seq_HFSC_Mouse1.63284277
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.62392387
32ESR1_21235772_ChIP-Seq_MCF-7_Human1.59751635
33CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.58592234
34CTNNB1_20460455_ChIP-Seq_HCT116_Human1.54591760
35DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.51591382
36SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.48487083
37* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.48450005
38PPAR_26484153_Chip-Seq_NCI-H1993_Human1.48441422
39TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.48206831
40TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.47817826
41* ELK3_25401928_ChIP-Seq_HUVEC_Human1.45918402
42TP53_18474530_ChIP-ChIP_U2OS_Human1.45647300
43* RUNX1_27514584_Chip-Seq_MCF-7_Human1.44355217
44CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.44271733
45SALL1_21062744_ChIP-ChIP_HESCs_Human1.42384859
46FOXO3_23340844_ChIP-Seq_DLD1_Human1.41121964
47RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.38668474
48NRF2_20460467_ChIP-Seq_MEFs_Mouse1.38376364
49NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.38376364
50GBX2_23144817_ChIP-Seq_PC3_Human1.33492531
51* UBF1/2_26484160_Chip-Seq_HMECs_Human1.33268366
52JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.33102643
53RUNX_20019798_ChIP-Seq_JUKART_Human1.30676042
54RBPJ_22232070_ChIP-Seq_NCS_Mouse1.30166079
55CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.29691093
56JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28848052
57TCF4_18268006_ChIP-ChIP_LS174T_Human1.28313204
58IRF8_22096565_ChIP-ChIP_GC-B_Human1.27647490
59PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.27519820
60CDX2_19796622_ChIP-Seq_MESCs_Mouse1.26892533
61KDM2B_26808549_Chip-Seq_SUP-B15_Human1.26828811
62ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.25278944
63FOXA2_19822575_ChIP-Seq_HepG2_Human1.25257890
64TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.23775685
65SALL4_18804426_ChIP-ChIP_XEN_Mouse1.22109239
66FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.20183704
67* KDM2B_26808549_Chip-Seq_JURKAT_Human1.19173856
68EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.18786263
69ELK4_26923725_Chip-Seq_MESODERM_Mouse1.13537540
70STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.12633847
71STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.12504579
72NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.09254646
73KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.07663427
74PKCTHETA_26484144_Chip-Seq_BREAST_Human1.07198762
75KDM2B_26808549_Chip-Seq_DND41_Human1.06844190
76ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.06726006
77ISL1_27105846_Chip-Seq_CPCs_Mouse1.06251512
78* ER_23166858_ChIP-Seq_MCF-7_Human1.05472960
79FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.04622719
80ZFP281_27345836_Chip-Seq_ESCs_Mouse1.03732032
81PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.02634702
82NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.02280161
83TP53_22127205_ChIP-Seq_IMR90_Human1.02124436
84CLOCK_20551151_ChIP-Seq_293T_Human1.01663837
85KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.01579722
86* RACK7_27058665_Chip-Seq_MCF-7_Human1.00349070
87TCF7_22412390_ChIP-Seq_EML_Mouse0.99349233
88TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.99180879
89PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.98997361
90AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.98221604
91EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97274837
92KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.96934193
93TP63_23658742_ChIP-Seq_EP156T_Human0.96542780
94NFIB_24661679_ChIP-Seq_LUNG_Mouse0.96409669
95VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.95443426
96EP300_21415370_ChIP-Seq_HL-1_Mouse0.94244060
97TBX20_22328084_ChIP-Seq_HEART_Mouse0.93394296
98TBX20_22080862_ChIP-Seq_HEART_Mouse0.93394296
99THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.91814977
100RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.90678681

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.44108426
2MP0005503_abnormal_tendon_morphology3.59888100
3MP0003705_abnormal_hypodermis_morpholog3.34437649
4MP0004272_abnormal_basement_membrane2.97230744
5MP0001958_emphysema2.93350537
6MP0005275_abnormal_skin_tensile2.91587251
7MP0006054_spinal_hemorrhage2.90436791
8MP0009384_cardiac_valve_regurgitation2.70025012
9MP0003279_aneurysm2.65643611
10MP0005257_abnormal_intraocular_pressure2.57072226
11MP0010368_abnormal_lymphatic_system2.56231640
12MP0003091_abnormal_cell_migration2.33549603
13MP0000013_abnormal_adipose_tissue2.18560839
14MP0000767_abnormal_smooth_muscle2.15977723
15MP0003566_abnormal_cell_adhesion1.87628803
16MP0000733_abnormal_muscle_development1.87199410
17MP0009780_abnormal_chondrocyte_physiolo1.86985617
18MP0005023_abnormal_wound_healing1.79837705
19MP0010234_abnormal_vibrissa_follicle1.73958997
20MP0002009_preneoplasia1.68514023
21MP0002932_abnormal_joint_morphology1.66167607
22MP0003763_abnormal_thymus_physiology1.64233667
23MP0002108_abnormal_muscle_morphology1.50740881
24MP0002168_other_aberrant_phenotype1.50577547
25MP0002060_abnormal_skin_morphology1.49500278
26MP0000003_abnormal_adipose_tissue1.48876832
27MP0008260_abnormal_autophagy1.47069300
28MP0000427_abnormal_hair_cycle1.45383468
29MP0010030_abnormal_orbit_morphology1.42183749
30MP0003942_abnormal_urinary_system1.35251451
31MP0001849_ear_inflammation1.34746886
32MP0009053_abnormal_anal_canal1.31926624
33MP0003385_abnormal_body_wall1.31914024
34MP0002896_abnormal_bone_mineralization1.29123952
35MP0005164_abnormal_response_to1.28704955
36MP0000534_abnormal_ureter_morphology1.26036799
37MP0005408_hypopigmentation1.25221579
38MP0001879_abnormal_lymphatic_vessel1.24035774
39MP0005248_abnormal_Harderian_gland1.23870941
40MP0003950_abnormal_plasma_membrane1.22933781
41MP0003300_gastrointestinal_ulcer1.20448377
42MP0002928_abnormal_bile_duct1.20215357
43MP0000569_abnormal_digit_pigmentation1.19462710
44MP0001270_distended_abdomen1.18155752
45MP0001299_abnormal_eye_distance/1.16442279
46MP0005623_abnormal_meninges_morphology1.15610047
47MP0002933_joint_inflammation1.15293693
48MP0001348_abnormal_lacrimal_gland1.14044123
49MP0005409_darkened_coat_color1.13799053
50MP0005508_abnormal_skeleton_morphology1.13285813
51MP0000428_abnormal_craniofacial_morphol1.12752948
52MP0001243_abnormal_dermal_layer1.12591746
53MP0000538_abnormal_urinary_bladder1.04960308
54MP0001873_stomach_inflammation1.04111373
55MP0003191_abnormal_cellular_cholesterol1.02536382
56MP0002115_abnormal_skeleton_extremities1.02432980
57MP0003935_abnormal_craniofacial_develop1.01326478
58MP0003045_fibrosis1.00248508
59MP0004883_abnormal_blood_vessel1.00000142
60MP0003115_abnormal_respiratory_system0.99307369
61MP0002166_altered_tumor_susceptibility0.96767006
62MP0001542_abnormal_bone_strength0.95559710
63MP0000537_abnormal_urethra_morphology0.95348902
64MP0002128_abnormal_blood_circulation0.95027942
65MP0006138_congestive_heart_failure0.94107953
66MP0010678_abnormal_skin_adnexa0.93418945
67MP0002109_abnormal_limb_morphology0.92004476
68MP0009250_abnormal_appendicular_skeleto0.91941774
69MP0000432_abnormal_head_morphology0.91853264
70MP0000163_abnormal_cartilage_morphology0.91035867
71MP0002925_abnormal_cardiovascular_devel0.90523713
72MP0002116_abnormal_craniofacial_bone0.89019231
73MP0004381_abnormal_hair_follicle0.88748887
74MP0002114_abnormal_axial_skeleton0.87826558
75MP0003755_abnormal_palate_morphology0.87286551
76MP0005076_abnormal_cell_differentiation0.86919856
77MP0003868_abnormal_feces_composition0.84880778
78MP0004233_abnormal_muscle_weight0.84835337
79MP0002177_abnormal_outer_ear0.83343745
80MP0003172_abnormal_lysosome_physiology0.82503790
81MP0003828_pulmonary_edema0.80190936
82MP0001614_abnormal_blood_vessel0.79862726
83MP0001175_abnormal_lung_morphology0.79820686
84MP0002113_abnormal_skeleton_development0.78959443
85MP0002295_abnormal_pulmonary_circulatio0.78929422
86MP0005360_urolithiasis0.77466839
87MP0001340_abnormal_eyelid_morphology0.76221774
88MP0003943_abnormal_hepatobiliary_system0.75949979
89MP0004858_abnormal_nervous_system0.75692963
90MP0001661_extended_life_span0.73889443
91MP0005621_abnormal_cell_physiology0.73692167
92MP0002282_abnormal_trachea_morphology0.73442799
93MP0004808_abnormal_hematopoietic_stem0.73113779
94MP0000371_diluted_coat_color0.72987090
95MP0000751_myopathy0.70038864
96MP0003937_abnormal_limbs/digits/tail_de0.69974544
97MP0008961_abnormal_basal_metabolism0.69766821
98MP0005595_abnormal_vascular_smooth0.69707289
99MP0004134_abnormal_chest_morphology0.69336296
100MP0002127_abnormal_cardiovascular_syste0.67325754

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)4.56646249
2Premature rupture of membranes (HP:0001788)4.44781538
3Cervical subluxation (HP:0003308)4.29699662
4Aortic dissection (HP:0002647)4.07432774
5Aortic aneurysm (HP:0004942)3.65109661
6Arterial tortuosity (HP:0005116)3.48817090
7Vascular tortuosity (HP:0004948)3.46826088
8Absent frontal sinuses (HP:0002688)3.36981335
9Broad face (HP:0000283)3.26108097
10Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)3.25593340
11Atrophic scars (HP:0001075)3.18151331
12Spinal cord lesions (HP:0100561)3.12913703
13Syringomyelia (HP:0003396)3.12913703
14Asymmetry of the thorax (HP:0001555)2.97630172
15Biconcave vertebral bodies (HP:0004586)2.91885087
16Peritonitis (HP:0002586)2.86817438
17Fragile skin (HP:0001030)2.82356958
18Abnormality of the frontal sinuses (HP:0002687)2.71499529
19Aortic regurgitation (HP:0001659)2.63435926
20Short nail (HP:0001799)2.59029723
21Dilatation of the ascending aorta (HP:0005111)2.56097806
22Wormian bones (HP:0002645)2.54311988
23Spondylolisthesis (HP:0003302)2.54016513
24Dislocated radial head (HP:0003083)2.53695590
25Cerebral aneurysm (HP:0004944)2.52087401
26Soft skin (HP:0000977)2.51192897
27Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.50674721
28Neonatal short-limb short stature (HP:0008921)2.49954571
29Mitral valve prolapse (HP:0001634)2.46364321
30Mitral regurgitation (HP:0001653)2.40160824
31Abnormality of dentin (HP:0010299)2.39560355
32Abnormality of the radial head (HP:0003995)2.39273426
33Bladder diverticulum (HP:0000015)2.39023603
34Abnormality of the ischium (HP:0003174)2.30745540
35Overgrowth (HP:0001548)2.28441004
36Aneurysm (HP:0002617)2.26729145
37Mitral stenosis (HP:0001718)2.26060891
38Abnormality of skull ossification (HP:0002703)2.24062450
39Joint laxity (HP:0001388)2.23421505
40Hypoplastic ischia (HP:0003175)2.22382008
41Shallow orbits (HP:0000586)2.21880526
42Blue sclerae (HP:0000592)2.21740865
43Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.19753823
44Vertebral compression fractures (HP:0002953)2.15869781
45Genu recurvatum (HP:0002816)2.14624991
46Thin bony cortex (HP:0002753)2.14066477
47Wide anterior fontanel (HP:0000260)2.08843214
48Subacute progressive viral hepatitis (HP:0006572)2.07262445
49J-shaped sella turcica (HP:0002680)2.00844428
50Sparse lateral eyebrow (HP:0005338)1.96360882
51Flat acetabular roof (HP:0003180)1.96223641
52Glucose intolerance (HP:0000833)1.95339260
53Decreased skull ossification (HP:0004331)1.93519110
54Spinal rigidity (HP:0003306)1.92716245
55Narrow palate (HP:0000189)1.92262561
56Abnormality of the distal phalanges of the toes (HP:0010182)1.90882413
57Ulnar bowing (HP:0003031)1.89456508
58Coarse hair (HP:0002208)1.88029414
59Natal tooth (HP:0000695)1.87871853
60Abnormality of the aortic arch (HP:0012303)1.86681158
61Abnormality of the nasal septum (HP:0000419)1.86206913
62Urinary glycosaminoglycan excretion (HP:0003541)1.85308677
63Mucopolysacchariduria (HP:0008155)1.85308677
64Deformed sella turcica (HP:0002681)1.85097871
65Heterotopia (HP:0002282)1.83035479
66Aortic valve stenosis (HP:0001650)1.82612186
67Macroorchidism (HP:0000053)1.81978574
68Joint stiffness (HP:0001387)1.80897210
69Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.77426796
70Hypoplasia of the odontoid process (HP:0003311)1.76959675
71Lip pit (HP:0100267)1.76203747
72Follicular hyperkeratosis (HP:0007502)1.74680743
73Germ cell neoplasia (HP:0100728)1.74621134
74Cupped ribs (HP:0000887)1.74057230
75Abnormality of the acetabulum (HP:0003170)1.73942440
76Ovoid vertebral bodies (HP:0003300)1.73021610
77Short clavicles (HP:0000894)1.72965040
78Hyperextensible skin (HP:0000974)1.72469027
79Pulmonary artery stenosis (HP:0004415)1.71222552
80Abnormality of polysaccharide metabolism (HP:0011012)1.70117798
81Abnormality of glycosaminoglycan metabolism (HP:0004371)1.70117798
82Abnormality of mucopolysaccharide metabolism (HP:0011020)1.70117798
83Aplasia/Hypoplasia of the clavicles (HP:0006710)1.70059956
84Abnormality of the sella turcica (HP:0002679)1.69946473
85Facial hemangioma (HP:0000329)1.69937830
86Ankle contracture (HP:0006466)1.68563804
87Inguinal hernia (HP:0000023)1.68043831
88Bowel diverticulosis (HP:0005222)1.66770080
89Thoracolumbar scoliosis (HP:0002944)1.66592973
90Broad palm (HP:0001169)1.65542453
91Tibial bowing (HP:0002982)1.65494203
92Flared iliac wings (HP:0002869)1.65070738
93Round face (HP:0000311)1.64013354
94Broad metatarsal (HP:0001783)1.63949434
95Abnormality of the odontoid process (HP:0003310)1.63738252
96Osteolytic defects of the phalanges of the hand (HP:0009771)1.63324871
97Osteolytic defects of the hand bones (HP:0009699)1.63324871
98Abnormality of the anterior chamber (HP:0000593)1.61486663
99Obstructive sleep apnea (HP:0002870)1.61474223
100Abnormality of oral frenula (HP:0000190)1.61438590

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB33.08465915
2PDGFRA2.75299528
3MST1R2.58447700
4SIK12.58000422
5MAP3K132.54347917
6PKN22.53011956
7SIK32.36663389
8MET2.21829936
9FGFR42.10079482
10LATS12.09948782
11ERN12.04124346
12STK382.01010067
13EPHB11.99627186
14SIK21.79880156
15FGFR21.71814442
16PTK21.68743372
17AKT31.66416555
18PDGFRB1.65160755
19FGFR31.62126266
20EPHA21.54647804
21MYLK1.53880564
22PTK2B1.51023927
23MAP3K121.40178985
24FLT31.36971072
25CDC42BPA1.36743472
26PRKD21.34848527
27MAP3K141.34799333
28TAOK31.29730962
29ICK1.29123112
30MARK21.27324015
31JAK11.25409155
32MAP3K71.20481789
33PTK61.20044427
34TYK21.15307808
35FRK1.14728697
36MTOR1.13507765
37RET1.11892018
38MARK31.09310466
39TRPM71.08786720
40RIPK11.08765886
41KSR11.08320021
42NTRK11.06592410
43PAK41.02630972
44BRD41.02467190
45CHUK1.02010816
46JAK31.01233340
47WNK11.00613751
48MAP3K21.00580996
49HIPK21.00421675
50MAPKAPK31.00024308
51ZAP700.98964517
52MAP3K60.93053004
53GRK60.91193705
54TTN0.87658179
55MAPK70.86844096
56TYRO30.85646406
57MELK0.83555596
58PIK3CA0.77965499
59DDR20.75525323
60RPS6KA20.74080311
61SGK30.73794227
62CDK120.72563416
63IKBKE0.70263575
64MAP2K30.69887564
65BLK0.68641596
66EPHB20.67567125
67ILK0.64160463
68LMTK20.62203884
69KSR20.61490055
70SGK20.60831946
71CDK90.60188909
72TGFBR20.60176651
73NEK90.59515240
74NEK60.57980833
75BCR0.56996429
76CSNK1A1L0.56148453
77MAP2K60.55710037
78NTRK20.54638366
79ERBB40.53618142
80MAP3K30.53441448
81EEF2K0.53404275
82PAK20.53183273
83EPHA30.52881050
84PRKD30.51581184
85PAK30.49401624
86IRAK30.46984768
87ERBB30.46330495
88IRAK40.45875940
89ITK0.45142706
90MAPK110.44686038
91MAP3K10.44141299
92MAPKAPK20.43247641
93HCK0.42335243
94MAP3K100.42074114
95RPS6KB10.40839710
96CDK80.40418797
97ROCK10.38223976
98RPS6KC10.35808693
99RPS6KL10.35808693
100MAP2K40.35147519

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan degradation_Homo sapiens_hsa005312.10977620
2ECM-receptor interaction_Homo sapiens_hsa045122.02855676
3Focal adhesion_Homo sapiens_hsa045101.93508356
4Other glycan degradation_Homo sapiens_hsa005111.86528957
5Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.81627590
6Small cell lung cancer_Homo sapiens_hsa052221.75096170
7Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.73778366
8Non-small cell lung cancer_Homo sapiens_hsa052231.62702613
9AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.60611644
10Chronic myeloid leukemia_Homo sapiens_hsa052201.52511951
11Lysine degradation_Homo sapiens_hsa003101.48474315
12T cell receptor signaling pathway_Homo sapiens_hsa046601.41456014
13Endometrial cancer_Homo sapiens_hsa052131.39430268
14Choline metabolism in cancer_Homo sapiens_hsa052311.38833970
15Proteoglycans in cancer_Homo sapiens_hsa052051.38349439
16mTOR signaling pathway_Homo sapiens_hsa041501.36273227
17Notch signaling pathway_Homo sapiens_hsa043301.28099968
18Pancreatic cancer_Homo sapiens_hsa052121.26146995
19Glioma_Homo sapiens_hsa052141.25530282
20Prolactin signaling pathway_Homo sapiens_hsa049171.25227835
21Prostate cancer_Homo sapiens_hsa052151.22989705
22Thyroid hormone signaling pathway_Homo sapiens_hsa049191.22463915
23Phosphatidylinositol signaling system_Homo sapiens_hsa040701.21811224
24Renal cell carcinoma_Homo sapiens_hsa052111.20317819
25VEGF signaling pathway_Homo sapiens_hsa043701.19109769
26Toxoplasmosis_Homo sapiens_hsa051451.17342192
27TGF-beta signaling pathway_Homo sapiens_hsa043501.16390787
28Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.16047337
29TNF signaling pathway_Homo sapiens_hsa046681.15877094
30Inositol phosphate metabolism_Homo sapiens_hsa005621.15524114
31ErbB signaling pathway_Homo sapiens_hsa040121.14298899
32Neurotrophin signaling pathway_Homo sapiens_hsa047221.12816129
33Thyroid cancer_Homo sapiens_hsa052161.12104010
34Acute myeloid leukemia_Homo sapiens_hsa052211.11245601
35FoxO signaling pathway_Homo sapiens_hsa040681.07714825
36RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.06785404
37MicroRNAs in cancer_Homo sapiens_hsa052061.04340432
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.04238489
39ABC transporters_Homo sapiens_hsa020101.03593013
40Complement and coagulation cascades_Homo sapiens_hsa046101.02293019
41B cell receptor signaling pathway_Homo sapiens_hsa046621.01624599
42PI3K-Akt signaling pathway_Homo sapiens_hsa041511.01313311
43Axon guidance_Homo sapiens_hsa043600.98392924
44Circadian rhythm_Homo sapiens_hsa047100.98276939
45Longevity regulating pathway - mammal_Homo sapiens_hsa042110.96907475
46Hepatitis B_Homo sapiens_hsa051610.95800631
47Dorso-ventral axis formation_Homo sapiens_hsa043200.95606959
48Adherens junction_Homo sapiens_hsa045200.95606239
49Amoebiasis_Homo sapiens_hsa051460.94997053
50Hepatitis C_Homo sapiens_hsa051600.94764206
51Phospholipase D signaling pathway_Homo sapiens_hsa040720.93828674
52Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.92225079
53Endocytosis_Homo sapiens_hsa041440.91751928
54NF-kappa B signaling pathway_Homo sapiens_hsa040640.88380291
55Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.85694166
56Insulin resistance_Homo sapiens_hsa049310.85681604
57Leukocyte transendothelial migration_Homo sapiens_hsa046700.83574111
58Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.82757768
59Measles_Homo sapiens_hsa051620.82705139
60Colorectal cancer_Homo sapiens_hsa052100.82532097
61Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.82147936
62Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.82081622
63Hedgehog signaling pathway_Homo sapiens_hsa043400.82039111
64Osteoclast differentiation_Homo sapiens_hsa043800.81513297
65Central carbon metabolism in cancer_Homo sapiens_hsa052300.79253005
66Regulation of actin cytoskeleton_Homo sapiens_hsa048100.79233892
67Hippo signaling pathway_Homo sapiens_hsa043900.79080068
68Pathways in cancer_Homo sapiens_hsa052000.78284107
69Jak-STAT signaling pathway_Homo sapiens_hsa046300.77256073
70GnRH signaling pathway_Homo sapiens_hsa049120.77007017
71Insulin signaling pathway_Homo sapiens_hsa049100.76775144
72Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.74632157
73AMPK signaling pathway_Homo sapiens_hsa041520.74137299
74Shigellosis_Homo sapiens_hsa051310.73854150
75Estrogen signaling pathway_Homo sapiens_hsa049150.72993592
76Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72992493
77Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.71418780
78Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.69765760
79N-Glycan biosynthesis_Homo sapiens_hsa005100.68697145
80Basal cell carcinoma_Homo sapiens_hsa052170.67890103
81Melanoma_Homo sapiens_hsa052180.67419867
82Protein digestion and absorption_Homo sapiens_hsa049740.67019154
83HTLV-I infection_Homo sapiens_hsa051660.65455429
84Influenza A_Homo sapiens_hsa051640.64605452
85Rap1 signaling pathway_Homo sapiens_hsa040150.62899945
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.60861525
87Platelet activation_Homo sapiens_hsa046110.60286336
88MAPK signaling pathway_Homo sapiens_hsa040100.58589375
89Bladder cancer_Homo sapiens_hsa052190.58040565
90NOD-like receptor signaling pathway_Homo sapiens_hsa046210.57196894
91Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.56873792
92Herpes simplex infection_Homo sapiens_hsa051680.55397144
93Viral myocarditis_Homo sapiens_hsa054160.54974928
94Glucagon signaling pathway_Homo sapiens_hsa049220.54521294
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.53696888
96Apoptosis_Homo sapiens_hsa042100.52491015
97Selenocompound metabolism_Homo sapiens_hsa004500.50573711
98Toll-like receptor signaling pathway_Homo sapiens_hsa046200.50442962
99Wnt signaling pathway_Homo sapiens_hsa043100.50321908
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50096929

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