NBPF20

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
1hemidesmosome assembly (GO:0031581)5.72876269
2regulation of DNA endoreduplication (GO:0032875)4.24836264
3establishment of protein localization to Golgi (GO:0072600)4.11740879
4sister chromatid cohesion (GO:0007062)4.07477809
5protein targeting to Golgi (GO:0000042)3.97060738
6retrograde transport, vesicle recycling within Golgi (GO:0000301)3.81421385
7regulation of RNA export from nucleus (GO:0046831)3.59700316
8mitotic sister chromatid cohesion (GO:0007064)3.37885450
9protein localization to Golgi apparatus (GO:0034067)3.32587887
10regulation of hippo signaling (GO:0035330)3.29053777
11replication fork processing (GO:0031297)3.22781230
12microtubule anchoring (GO:0034453)3.17137400
13RNA localization (GO:0006403)3.06671134
14limb bud formation (GO:0060174)2.92414716
15intraciliary transport (GO:0042073)2.91981403
16epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.90977356
17negative regulation of axon guidance (GO:1902668)2.86657442
18histone H2A acetylation (GO:0043968)2.86336278
19regulation of nucleobase-containing compound transport (GO:0032239)2.81026629
20kinetochore organization (GO:0051383)2.79254278
21pericardium development (GO:0060039)2.75632315
22centriole replication (GO:0007099)2.73939503
23nuclear pore complex assembly (GO:0051292)2.71688644
24microtubule polymerization or depolymerization (GO:0031109)2.70412100
25mitotic cytokinesis (GO:0000281)2.70404073
26negative regulation of DNA-dependent DNA replication (GO:2000104)2.69124960
27negative regulation of axon extension involved in axon guidance (GO:0048843)2.67790955
28kinetochore assembly (GO:0051382)2.63814257
29cerebral cortex radially oriented cell migration (GO:0021799)2.58936768
30hindbrain development (GO:0030902)2.55109557
31microtubule depolymerization (GO:0007019)2.54443138
32regulation of hexokinase activity (GO:1903299)2.54419049
33regulation of glucokinase activity (GO:0033131)2.54419049
34DNA-dependent DNA replication (GO:0006261)2.54371859
35cilium morphogenesis (GO:0060271)2.53394017
36intra-Golgi vesicle-mediated transport (GO:0006891)2.52865473
37establishment of nucleus localization (GO:0040023)2.50403212
38cornea development in camera-type eye (GO:0061303)2.49526845
39negative regulation of keratinocyte proliferation (GO:0010839)2.44023610
40regulation of mitotic spindle organization (GO:0060236)2.43859011
41nucleus localization (GO:0051647)2.43316519
42nuclear pore organization (GO:0006999)2.43134472
43monoubiquitinated protein deubiquitination (GO:0035520)2.43025059
44snRNA transcription (GO:0009301)2.42530403
45cytoskeleton-dependent cytokinesis (GO:0061640)2.39013350
46regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.38234754
47oxidative demethylation (GO:0070989)2.38057485
48regulation of non-canonical Wnt signaling pathway (GO:2000050)2.37198825
49behavioral response to nicotine (GO:0035095)2.36820439
50maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.34862968
51positive regulation of meiosis (GO:0045836)2.31452535
52regulation of axon guidance (GO:1902667)2.30843301
53negative regulation of activin receptor signaling pathway (GO:0032926)2.30193540
54double-strand break repair via homologous recombination (GO:0000724)2.28558050
55substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.28290589
56substrate-independent telencephalic tangential migration (GO:0021826)2.28290589
57detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.26966958
58auditory receptor cell differentiation (GO:0042491)2.26618990
59TOR signaling (GO:0031929)2.25427544
60epithelial cilium movement (GO:0003351)2.25366758
61drug catabolic process (GO:0042737)2.25077917
62central nervous system neuron axonogenesis (GO:0021955)2.24761248
63genitalia morphogenesis (GO:0035112)2.24403407
64regulation of timing of cell differentiation (GO:0048505)2.23547958
65recombinational repair (GO:0000725)2.23369634
66embryonic retina morphogenesis in camera-type eye (GO:0060059)2.23181940
67centriole assembly (GO:0098534)2.22964608
68peristalsis (GO:0030432)2.22186686
69regulation of centriole replication (GO:0046599)2.19656985
70positive regulation of meiotic cell cycle (GO:0051446)2.19647642
71sympathetic nervous system development (GO:0048485)2.19528511
72intestinal cholesterol absorption (GO:0030299)2.18929369
73protein prenylation (GO:0018342)2.18115642
74prenylation (GO:0097354)2.18115642
75lens development in camera-type eye (GO:0002088)2.17509285
76photoreceptor cell development (GO:0042461)2.17068180
77myoblast fusion (GO:0007520)2.14697419
78negative regulation of systemic arterial blood pressure (GO:0003085)2.14545098
79negative regulation of translation, ncRNA-mediated (GO:0040033)2.14429634
80regulation of translation, ncRNA-mediated (GO:0045974)2.14429634
81negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.14429634
82regulation of sarcomere organization (GO:0060297)2.13604644
83photoreceptor cell differentiation (GO:0046530)2.13307299
84eye photoreceptor cell differentiation (GO:0001754)2.13307299
85negative regulation of smooth muscle cell differentiation (GO:0051151)2.13013945
86regulation of axon extension involved in axon guidance (GO:0048841)2.12081523
87cellular response to sterol (GO:0036315)2.10796680
88cilium assembly (GO:0042384)2.10736561
89cilium organization (GO:0044782)2.10169772
90indolalkylamine metabolic process (GO:0006586)2.09468548
91nephron tubule morphogenesis (GO:0072078)2.09352657
92nephron epithelium morphogenesis (GO:0072088)2.09352657
93cell wall macromolecule catabolic process (GO:0016998)2.08622687
94protein localization to cytoskeleton (GO:0044380)2.07900353
95myelin assembly (GO:0032288)2.07690006
96regulation of centrosome duplication (GO:0010824)2.07395908
97peripheral nervous system axon ensheathment (GO:0032292)2.06366213
98myelination in peripheral nervous system (GO:0022011)2.06366213
99cytoplasmic microtubule organization (GO:0031122)2.06190615
100musculoskeletal movement (GO:0050881)2.05975130

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.85754443
2SALL1_21062744_ChIP-ChIP_HESCs_Human3.31237942
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.87877199
4CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.85758959
5ZNF274_21170338_ChIP-Seq_K562_Hela2.49772989
6POU3F2_20337985_ChIP-ChIP_501MEL_Human2.46672318
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.36729738
8BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.34537072
9TP53_16413492_ChIP-PET_HCT116_Human2.14365310
10SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.13596888
11TAF15_26573619_Chip-Seq_HEK293_Human2.11721481
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.11627705
13FUS_26573619_Chip-Seq_HEK293_Human2.10194350
14AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.09922342
15EWS_26573619_Chip-Seq_HEK293_Human2.08062181
16CTBP2_25329375_ChIP-Seq_LNCAP_Human2.00690556
17ER_23166858_ChIP-Seq_MCF-7_Human2.00228674
18SMAD4_21799915_ChIP-Seq_A2780_Human1.99176522
19CTBP1_25329375_ChIP-Seq_LNCAP_Human1.97162029
20VDR_22108803_ChIP-Seq_LS180_Human1.96909869
21BCAT_22108803_ChIP-Seq_LS180_Human1.92804591
22RBPJ_22232070_ChIP-Seq_NCS_Mouse1.88835210
23STAT3_23295773_ChIP-Seq_U87_Human1.86757517
24PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.85820359
25FLI1_27457419_Chip-Seq_LIVER_Mouse1.82803577
26P300_19829295_ChIP-Seq_ESCs_Human1.77513718
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.75707842
28AHR_22903824_ChIP-Seq_MCF-7_Human1.71210152
29* ESR1_20079471_ChIP-ChIP_T-47D_Human1.69785972
30IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.65149056
31CBP_20019798_ChIP-Seq_JUKART_Human1.65149056
32TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.64472215
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.62421873
34SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.62158375
35* TCF4_23295773_ChIP-Seq_U87_Human1.59158597
36PIAS1_25552417_ChIP-Seq_VCAP_Human1.58607547
37PCGF2_27294783_Chip-Seq_ESCs_Mouse1.56123613
38TP53_18474530_ChIP-ChIP_U2OS_Human1.49181884
39SMAD3_21741376_ChIP-Seq_EPCs_Human1.48871137
40ZNF217_24962896_ChIP-Seq_MCF-7_Human1.48472415
41IGF1R_20145208_ChIP-Seq_DFB_Human1.47271830
42MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.46644347
43SUZ12_27294783_Chip-Seq_NPCs_Mouse1.45670176
44ARNT_22903824_ChIP-Seq_MCF-7_Human1.45054171
45TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.40643745
46NR3C1_21868756_ChIP-Seq_MCF10A_Human1.40351688
47PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.39070108
48CJUN_26792858_Chip-Seq_BT549_Human1.39064667
49AR_25329375_ChIP-Seq_VCAP_Human1.38395265
50SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36095595
51FOXM1_26456572_ChIP-Seq_MCF-7_Human1.34517477
52NANOG_18555785_Chip-Seq_ESCs_Mouse1.34495823
53NFE2_27457419_Chip-Seq_LIVER_Mouse1.33633228
54CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32293308
55UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.31848808
56CBX2_27304074_Chip-Seq_ESCs_Mouse1.31604221
57EZH2_27294783_Chip-Seq_NPCs_Mouse1.30928958
58KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.30623546
59TCF4_22108803_ChIP-Seq_LS180_Human1.28139352
60OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24978685
61TCF4_18268006_ChIP-ChIP_LS174T_Human1.24774609
62TBL1_22424771_ChIP-Seq_293T_Human1.24549593
63PCGF2_27294783_Chip-Seq_NPCs_Mouse1.23723655
64RUNX2_22187159_ChIP-Seq_PCA_Human1.23462587
65TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22549187
66EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.20210181
67CTNNB1_20460455_ChIP-Seq_HCT116_Human1.19802111
68P53_22387025_ChIP-Seq_ESCs_Mouse1.19133924
69BRD4_25478319_ChIP-Seq_HGPS_Human1.18699222
70CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.18008626
71SOX2_21211035_ChIP-Seq_LN229_Gbm1.17712739
72CDX2_22108803_ChIP-Seq_LS180_Human1.17611480
73CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.17330073
74CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.16514193
75FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.16139934
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15193762
77POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.15193762
78SMAD_19615063_ChIP-ChIP_OVARY_Human1.14331742
79EP300_21415370_ChIP-Seq_HL-1_Mouse1.13772916
80E2F1_18555785_Chip-Seq_ESCs_Mouse1.13543697
81KLF5_20875108_ChIP-Seq_MESCs_Mouse1.10444805
82AR_21572438_ChIP-Seq_LNCaP_Human1.09481272
83RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07758555
84NRF2_20460467_ChIP-Seq_MEFs_Mouse1.06571568
85NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.06571568
86NR3C1_23031785_ChIP-Seq_PC12_Mouse1.06140830
87TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04897113
88RXR_22108803_ChIP-Seq_LS180_Human1.01803803
89SMAD4_21741376_ChIP-Seq_EPCs_Human1.01379120
90TP53_22573176_ChIP-Seq_HFKS_Human1.01316601
91PRDM14_20953172_ChIP-Seq_ESCs_Human1.01309307
92CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.01211082
93CMYC_18555785_Chip-Seq_ESCs_Mouse1.00524214
94WDR5_24793694_ChIP-Seq_LNCAP_Human0.99453349
95ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.99219122
96STAT3_18555785_Chip-Seq_ESCs_Mouse0.98928040
97LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97697308
98NFYB_21822215_ChIP-Seq_K562_Human0.97648168
99ETV1_20927104_ChIP-Seq_GIST48_Human0.97508493
100CDX2_19796622_ChIP-Seq_MESCs_Mouse0.97328254

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000749_muscle_degeneration2.74050280
2MP0003950_abnormal_plasma_membrane2.63523448
3MP0000569_abnormal_digit_pigmentation2.32065180
4MP0001299_abnormal_eye_distance/2.23830345
5MP0000751_myopathy2.23425483
6MP0006292_abnormal_olfactory_placode2.06943077
7MP0003195_calcinosis1.95776202
8MP0009780_abnormal_chondrocyte_physiolo1.95372486
9MP0002938_white_spotting1.87678032
10MP0002269_muscular_atrophy1.79280917
11MP0005257_abnormal_intraocular_pressure1.76489959
12MP0005187_abnormal_penis_morphology1.74486939
13MP0000427_abnormal_hair_cycle1.72597050
14MP0002234_abnormal_pharynx_morphology1.71980560
15MP0010030_abnormal_orbit_morphology1.69077590
16MP0002168_other_aberrant_phenotype1.65980757
17MP0002332_abnormal_exercise_endurance1.64145486
18MP0009046_muscle_twitch1.60779554
19MP0008057_abnormal_DNA_replication1.59917830
20MP0003937_abnormal_limbs/digits/tail_de1.56480314
21MP0003252_abnormal_bile_duct1.55207172
22MP0003755_abnormal_palate_morphology1.52434338
23MP0003045_fibrosis1.51853745
24MP0002233_abnormal_nose_morphology1.49168716
25MP0002928_abnormal_bile_duct1.49019885
26MP0003935_abnormal_craniofacial_develop1.48790853
27MP0005408_hypopigmentation1.42973306
28MP0009697_abnormal_copulation1.40969146
29MP0003890_abnormal_embryonic-extraembry1.38439069
30MP0000778_abnormal_nervous_system1.35741359
31MP0004043_abnormal_pH_regulation1.35194641
32MP0002734_abnormal_mechanical_nocicepti1.30461573
33MP0005551_abnormal_eye_electrophysiolog1.29825634
34MP0005023_abnormal_wound_healing1.29808412
35MP0008877_abnormal_DNA_methylation1.29198577
36MP0008058_abnormal_DNA_repair1.28729032
37MP0002638_abnormal_pupillary_reflex1.22591396
38MP0002837_dystrophic_cardiac_calcinosis1.22432462
39MP0002697_abnormal_eye_size1.21800389
40MP0000762_abnormal_tongue_morphology1.17994795
41MP0000631_abnormal_neuroendocrine_gland1.17074909
42MP0000647_abnormal_sebaceous_gland1.16967236
43MP0003943_abnormal_hepatobiliary_system1.16703910
44MP0003868_abnormal_feces_composition1.16700167
45MP0003385_abnormal_body_wall1.16506932
46MP0003942_abnormal_urinary_system1.14645755
47MP0002184_abnormal_innervation1.13300369
48MP0002751_abnormal_autonomic_nervous1.12276445
49MP0002876_abnormal_thyroid_physiology1.09164627
50MP0010094_abnormal_chromosome_stability1.08571149
51MP0009250_abnormal_appendicular_skeleto1.07893492
52MP0000372_irregular_coat_pigmentation1.07072446
53MP0005395_other_phenotype1.06898146
54MP0003787_abnormal_imprinting1.06726362
55MP0000566_synostosis1.05696822
56MP0005266_abnormal_metabolism1.03280611
57MP0002095_abnormal_skin_pigmentation1.03254978
58MP0002249_abnormal_larynx_morphology1.02362666
59MP0004142_abnormal_muscle_tone1.01692968
60MP0002282_abnormal_trachea_morphology1.00323610
61MP0000015_abnormal_ear_pigmentation0.99896726
62MP0002177_abnormal_outer_ear0.99386325
63MP0002295_abnormal_pulmonary_circulatio0.98590434
64MP0000383_abnormal_hair_follicle0.97303579
65MP0000049_abnormal_middle_ear0.96303423
66MP0001666_abnormal_nutrient_absorption0.95423167
67MP0000432_abnormal_head_morphology0.94777769
68MP0002160_abnormal_reproductive_system0.93912168
69MP0000428_abnormal_craniofacial_morphol0.93256310
70MP0002102_abnormal_ear_morphology0.93224740
71MP0004134_abnormal_chest_morphology0.92407893
72MP0010678_abnormal_skin_adnexa0.92168224
73MP0010368_abnormal_lymphatic_system0.91958382
74MP0008789_abnormal_olfactory_epithelium0.91399157
75MP0001324_abnormal_eye_pigmentation0.90327233
76MP0001968_abnormal_touch/_nociception0.89659577
77MP0001270_distended_abdomen0.89208365
78MP0002272_abnormal_nervous_system0.85109895
79MP0003121_genomic_imprinting0.84911891
80MP0001243_abnormal_dermal_layer0.84876061
81MP0002116_abnormal_craniofacial_bone0.84525920
82MP0002109_abnormal_limb_morphology0.82527247
83MP0005646_abnormal_pituitary_gland0.81971231
84MP0000534_abnormal_ureter_morphology0.81728356
85MP0008875_abnormal_xenobiotic_pharmacok0.81013472
86MP0005386_behavior/neurological_phenoty0.80095388
87MP0004924_abnormal_behavior0.80095388
88MP0001286_abnormal_eye_development0.80060806
89MP0002108_abnormal_muscle_morphology0.79834920
90MP0005174_abnormal_tail_pigmentation0.79759912
91MP0004272_abnormal_basement_membrane0.79237585
92MP0004270_analgesia0.78939091
93MP0004133_heterotaxia0.76357628
94MP0001486_abnormal_startle_reflex0.75904271
95MP0006035_abnormal_mitochondrial_morpho0.75869230
96MP0001929_abnormal_gametogenesis0.74672130
97MP0000613_abnormal_salivary_gland0.72838975
98MP0001984_abnormal_olfaction0.71057022
99MP0000579_abnormal_nail_morphology0.70078410
100MP0002210_abnormal_sex_determination0.69965698

Predicted human phenotypes

RankGene SetZ-score
1Urethral obstruction (HP:0000796)5.98411181
2Alopecia of scalp (HP:0002293)4.85483244
3Volvulus (HP:0002580)4.82278606
4Neonatal respiratory distress (HP:0002643)4.43971385
5Abnormality of the neuromuscular junction (HP:0003398)3.47347602
6Fatigable weakness (HP:0003473)3.47347602
7Hyperventilation (HP:0002883)3.16054043
8Milia (HP:0001056)3.12191978
9Thick nail (HP:0001805)2.94778892
10Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.85336153
11Short 1st metacarpal (HP:0010034)2.85336153
12Hypoplastic ischia (HP:0003175)2.80702268
13Abnormality of midbrain morphology (HP:0002418)2.74599172
14Molar tooth sign on MRI (HP:0002419)2.74599172
15Short chin (HP:0000331)2.72283545
16Abnormality of the lower motor neuron (HP:0002366)2.63823130
17Abnormality of the ischium (HP:0003174)2.57519109
18Pancreatic cysts (HP:0001737)2.54151787
19Fragile skin (HP:0001030)2.53059867
20Limited hip movement (HP:0008800)2.52109612
21Chromsome breakage (HP:0040012)2.47639174
22Oligomenorrhea (HP:0000876)2.47332066
23Abnormality of the 1st metacarpal (HP:0010009)2.44066443
24Abnormality of the renal cortex (HP:0011035)2.41987646
25Aplasia/Hypoplasia of the uvula (HP:0010293)2.39606264
26Pancreatic fibrosis (HP:0100732)2.36415697
27Oligodontia (HP:0000677)2.32099259
28Microtia (HP:0008551)2.31532357
29Ectopic kidney (HP:0000086)2.29600722
30Broad-based gait (HP:0002136)2.26655803
31Nephronophthisis (HP:0000090)2.25323559
32Chromosomal breakage induced by crosslinking agents (HP:0003221)2.24611409
33Increased connective tissue (HP:0009025)2.23906306
34Small hand (HP:0200055)2.23895518
35True hermaphroditism (HP:0010459)2.18767508
36Decreased lacrimation (HP:0000633)2.18714571
37Alacrima (HP:0000522)2.17039859
38Tubulointerstitial nephritis (HP:0001970)2.16502966
39Abnormality of the renal medulla (HP:0100957)2.16457351
40Long clavicles (HP:0000890)2.15446484
41Renal cortical cysts (HP:0000803)2.15197595
42Gaze-evoked nystagmus (HP:0000640)2.13933841
43Bifid tongue (HP:0010297)2.09141918
44Difficulty climbing stairs (HP:0003551)2.08678734
45Intestinal atresia (HP:0011100)2.03679329
46Short phalanx of the thumb (HP:0009660)2.00866028
47Heterotopia (HP:0002282)1.99310181
48Abnormality of the carotid arteries (HP:0005344)1.98586826
49Type II lissencephaly (HP:0007260)1.98405491
50Abnormality of the nasal septum (HP:0000419)1.97183053
51Tubular atrophy (HP:0000092)1.97161305
52Abnormality of chromosome stability (HP:0003220)1.97101463
53Cerebellar dysplasia (HP:0007033)1.96656739
54Abnormality of the preputium (HP:0100587)1.95940681
55Abnormality of the astrocytes (HP:0100707)1.94374086
56Astrocytoma (HP:0009592)1.94374086
57Increased number of teeth (HP:0011069)1.93526820
58Abnormality of the ileum (HP:0001549)1.93185794
59Neoplasm of the oral cavity (HP:0100649)1.92636784
60Gowers sign (HP:0003391)1.90979474
61Meckel diverticulum (HP:0002245)1.89865042
62Popliteal pterygium (HP:0009756)1.83175036
63Aplasia/Hypoplasia of the tibia (HP:0005772)1.81900634
64Low anterior hairline (HP:0000294)1.81743637
65Glioma (HP:0009733)1.80732066
66Truncal obesity (HP:0001956)1.80648782
67Chronic hepatic failure (HP:0100626)1.80324231
68Widely spaced teeth (HP:0000687)1.79861871
69Increased nuchal translucency (HP:0010880)1.79271980
70Cystic liver disease (HP:0006706)1.79257302
71Weak cry (HP:0001612)1.78928635
72Muscular dystrophy (HP:0003560)1.78371127
73Depressed nasal tip (HP:0000437)1.75832153
74Abnormality of the phalanges of the hallux (HP:0010057)1.75408258
75Fair hair (HP:0002286)1.75125810
76Clubbing of toes (HP:0100760)1.75030229
77Hand muscle atrophy (HP:0009130)1.72103983
78Sloping forehead (HP:0000340)1.71206027
79Preaxial foot polydactyly (HP:0001841)1.70347722
80Overlapping toe (HP:0001845)1.68394933
81Hypoplastic labia majora (HP:0000059)1.67772827
82Smooth philtrum (HP:0000319)1.67081210
83Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.66476011
84Aplasia/Hypoplasia of the tongue (HP:0010295)1.63609853
85Tubulointerstitial abnormality (HP:0001969)1.62661767
86Limited elbow extension (HP:0001377)1.62457552
87Abnormality of the labia majora (HP:0012881)1.62146699
88Highly arched eyebrow (HP:0002553)1.61743991
89Long nose (HP:0003189)1.61285423
90Atrophic scars (HP:0001075)1.60076497
91Hypoplastic iliac wings (HP:0002866)1.59815816
92Increased corneal curvature (HP:0100692)1.59242113
93Keratoconus (HP:0000563)1.59242113
94Gastrointestinal atresia (HP:0002589)1.58957453
95Short thumb (HP:0009778)1.58611361
96Distal upper limb amyotrophy (HP:0007149)1.58565433
97Upper limb amyotrophy (HP:0009129)1.58565433
98Underdeveloped nasal alae (HP:0000430)1.57988020
99Attenuation of retinal blood vessels (HP:0007843)1.57906693
100Exotropia (HP:0000577)1.56127706

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.58560794
2PNCK3.48935180
3CASK3.23681594
4MST1R3.13719851
5WNK42.28860769
6BMPR1B2.11480179
7MAP3K92.02049078
8MET1.96773279
9FGFR21.88851334
10LATS11.87747563
11NTRK31.80594098
12MAP3K121.80227080
13MAP4K21.80178692
14BRSK21.73273838
15STK391.72399434
16MAP3K41.69736670
17EIF2AK31.68308927
18NUAK11.54706981
19EPHA41.53938004
20WNK31.53270483
21CDK31.53075347
22TNIK1.51375154
23BCR1.44011023
24PAK31.38757272
25WEE11.38717049
26MUSK1.34418428
27EIF2AK11.31944883
28CAMK1G1.27915611
29SIK21.27121622
30MAPK131.26500726
31NEK21.24769693
32OXSR11.18089855
33CDK121.11839659
34WNK11.11242115
35EPHA31.08923556
36MKNK21.04620692
37TRPM71.00987016
38GRK10.97476899
39PTK20.97366144
40PLK10.96971736
41MARK10.95996728
42PRKCE0.93371913
43STK30.93091724
44AKT30.92345902
45INSRR0.92187245
46PLK20.91733567
47ACVR1B0.89792180
48MST40.88791152
49TRIM280.86906497
50PTK2B0.86461896
51TAOK30.85960776
52STK380.85895399
53STK38L0.85334966
54ATM0.79972141
55SGK20.78478238
56PDGFRB0.77601283
57PBK0.76731350
58CCNB10.76508897
59PKN10.76480536
60ZAK0.73136914
61ROCK10.68898063
62MTOR0.68062675
63AURKB0.68058847
64PLK40.67318621
65NME10.64075402
66PRKACB0.61751505
67FER0.61501669
68DMPK0.58879653
69SGK10.58856944
70CHEK10.58242469
71CSNK1E0.57681872
72PRKDC0.56249247
73ADRBK10.55981274
74ADRBK20.54279074
75TGFBR20.53572919
76MELK0.51743312
77CAMK2A0.51535547
78PINK10.51329213
79MAPK140.49905780
80CHEK20.49753904
81BRSK10.49649922
82ATR0.48072744
83CDC42BPA0.47575731
84CDK10.47408938
85FGFR10.45514548
86NTRK20.45170849
87CDK80.44742390
88TSSK60.44523908
89CAMK2D0.43979817
90PIK3CA0.43602291
91CAMK2B0.42802180
92PRKG10.42296312
93BRD40.42065141
94KSR10.42005221
95PHKG10.39051632
96PHKG20.39051632
97MAP2K10.37731724
98BUB10.37263218
99CSNK1D0.37101886
100MAP2K60.36678059

Predicted pathways (KEGG)

RankGene SetZ-score
1Fanconi anemia pathway_Homo sapiens_hsa034602.61179969
2Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.18778312
3Basal transcription factors_Homo sapiens_hsa030222.11648223
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.09319389
5Maturity onset diabetes of the young_Homo sapiens_hsa049502.07265652
6Non-homologous end-joining_Homo sapiens_hsa034501.95096085
7Lysine degradation_Homo sapiens_hsa003101.94778789
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.93570191
9Butanoate metabolism_Homo sapiens_hsa006501.88251542
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.82987578
11Homologous recombination_Homo sapiens_hsa034401.80858869
12Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.71078100
13Protein export_Homo sapiens_hsa030601.68089679
14ABC transporters_Homo sapiens_hsa020101.67840121
15RNA polymerase_Homo sapiens_hsa030201.66243029
16Caffeine metabolism_Homo sapiens_hsa002321.62212162
17Taste transduction_Homo sapiens_hsa047421.60631683
18Primary bile acid biosynthesis_Homo sapiens_hsa001201.59493800
19Chemical carcinogenesis_Homo sapiens_hsa052041.53422965
20Propanoate metabolism_Homo sapiens_hsa006401.53341722
21Steroid hormone biosynthesis_Homo sapiens_hsa001401.52019413
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.50962442
23Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.48009613
24Retinol metabolism_Homo sapiens_hsa008301.43361513
25Complement and coagulation cascades_Homo sapiens_hsa046101.43000894
26TGF-beta signaling pathway_Homo sapiens_hsa043501.42567823
27Selenocompound metabolism_Homo sapiens_hsa004501.42438392
28Nicotine addiction_Homo sapiens_hsa050331.32141757
29Phototransduction_Homo sapiens_hsa047441.28164159
30Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.22861246
31Insulin secretion_Homo sapiens_hsa049111.20519885
32Vitamin B6 metabolism_Homo sapiens_hsa007501.20096684
33RNA transport_Homo sapiens_hsa030131.18667008
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.18335081
35Dorso-ventral axis formation_Homo sapiens_hsa043201.16647959
36Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.14872092
37Tryptophan metabolism_Homo sapiens_hsa003801.14526460
38Nitrogen metabolism_Homo sapiens_hsa009101.13881456
39RNA degradation_Homo sapiens_hsa030181.13871935
40Circadian rhythm_Homo sapiens_hsa047101.10009601
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.08351767
42Olfactory transduction_Homo sapiens_hsa047401.07627213
43Nucleotide excision repair_Homo sapiens_hsa034201.06896370
44Oocyte meiosis_Homo sapiens_hsa041141.02967441
45Axon guidance_Homo sapiens_hsa043601.00242623
46Hippo signaling pathway_Homo sapiens_hsa043900.97609622
47Pentose and glucuronate interconversions_Homo sapiens_hsa000400.97294772
48Basal cell carcinoma_Homo sapiens_hsa052170.93569461
49Linoleic acid metabolism_Homo sapiens_hsa005910.93302422
50Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.91703506
51Mineral absorption_Homo sapiens_hsa049780.90320149
52Hedgehog signaling pathway_Homo sapiens_hsa043400.89780530
53Bile secretion_Homo sapiens_hsa049760.88064152
54ECM-receptor interaction_Homo sapiens_hsa045120.88050473
55Glutamatergic synapse_Homo sapiens_hsa047240.86157971
56N-Glycan biosynthesis_Homo sapiens_hsa005100.84892734
57One carbon pool by folate_Homo sapiens_hsa006700.84404277
58Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.82817983
59Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.82496963
60Folate biosynthesis_Homo sapiens_hsa007900.82411816
61Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.81650228
62Wnt signaling pathway_Homo sapiens_hsa043100.79221668
63Glycerolipid metabolism_Homo sapiens_hsa005610.77260867
64Steroid biosynthesis_Homo sapiens_hsa001000.77114277
65Mismatch repair_Homo sapiens_hsa034300.76586133
66Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.75255811
67Sphingolipid metabolism_Homo sapiens_hsa006000.74592667
68Salivary secretion_Homo sapiens_hsa049700.74559815
69Pyrimidine metabolism_Homo sapiens_hsa002400.73853384
70Circadian entrainment_Homo sapiens_hsa047130.72266689
71Regulation of autophagy_Homo sapiens_hsa041400.68596606
72Adherens junction_Homo sapiens_hsa045200.67675551
73Cocaine addiction_Homo sapiens_hsa050300.65709244
74Aldosterone synthesis and secretion_Homo sapiens_hsa049250.64929480
75Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63886651
76Sulfur metabolism_Homo sapiens_hsa009200.61907857
77Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.59368430
78Serotonergic synapse_Homo sapiens_hsa047260.59354416
79Tight junction_Homo sapiens_hsa045300.59266021
80Thyroid hormone synthesis_Homo sapiens_hsa049180.59176011
81Calcium signaling pathway_Homo sapiens_hsa040200.58745622
82Spliceosome_Homo sapiens_hsa030400.58128279
83Peroxisome_Homo sapiens_hsa041460.58040526
84mRNA surveillance pathway_Homo sapiens_hsa030150.54945702
85Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54940172
86Phosphatidylinositol signaling system_Homo sapiens_hsa040700.54484239
87Inositol phosphate metabolism_Homo sapiens_hsa005620.53836452
88Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.52370568
89Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.52147490
90Dopaminergic synapse_Homo sapiens_hsa047280.51870429
91Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.51720502
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.51445033
93Purine metabolism_Homo sapiens_hsa002300.48037976
94Focal adhesion_Homo sapiens_hsa045100.47622103
95Protein digestion and absorption_Homo sapiens_hsa049740.47020740
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46033652
97Ovarian steroidogenesis_Homo sapiens_hsa049130.44877145
98Cell cycle_Homo sapiens_hsa041100.44782895
99Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44256770
100Drug metabolism - other enzymes_Homo sapiens_hsa009830.44103380

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