NBPF25P

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
1regulation of phospholipid biosynthetic process (GO:0071071)6.24781073
2somite development (GO:0061053)5.98640760
3negative regulation of oligodendrocyte differentiation (GO:0048715)5.39717665
4axon ensheathment in central nervous system (GO:0032291)5.30528194
5central nervous system myelination (GO:0022010)5.30528194
6serotonin receptor signaling pathway (GO:0007210)5.11854610
7sequestering of actin monomers (GO:0042989)4.98064499
8positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-4.63187541
9otic vesicle formation (GO:0030916)4.61886162
10negative regulation of transcription regulatory region DNA binding (GO:2000678)4.46048245
11cGMP biosynthetic process (GO:0006182)4.45454864
12lateral sprouting from an epithelium (GO:0060601)4.34618065
13nonmotile primary cilium assembly (GO:0035058)4.34035568
14negative regulation of astrocyte differentiation (GO:0048712)4.26978390
15limb bud formation (GO:0060174)4.24121207
16epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.11267989
17mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.08222600
18epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)4.01885381
19behavioral response to cocaine (GO:0048148)3.86355222
20establishment of protein localization to mitochondrial membrane (GO:0090151)3.85758344
21cranial suture morphogenesis (GO:0060363)3.83436396
22energy coupled proton transport, down electrochemical gradient (GO:0015985)3.81234783
23ATP synthesis coupled proton transport (GO:0015986)3.81234783
24centriole replication (GO:0007099)3.80583971
25cartilage morphogenesis (GO:0060536)3.69554862
26regulation of pigment cell differentiation (GO:0050932)3.69261340
27regulation of cilium movement (GO:0003352)3.66909101
28substrate-independent telencephalic tangential migration (GO:0021826)3.64480993
29substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.64480993
30presynaptic membrane assembly (GO:0097105)3.62637520
31behavioral defense response (GO:0002209)3.62482004
32behavioral fear response (GO:0001662)3.62482004
33regulation of appetite (GO:0032098)3.61217496
34regulation of non-canonical Wnt signaling pathway (GO:2000050)3.56308272
35neuronal stem cell maintenance (GO:0097150)3.53422609
36G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.52980753
37ventricular trabecula myocardium morphogenesis (GO:0003222)3.43504429
38neural tube formation (GO:0001841)3.42795853
39regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.41230022
40regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.41230022
41cGMP metabolic process (GO:0046068)3.40059836
42midbrain development (GO:0030901)3.36457595
43viral transcription (GO:0019083)3.33669568
44translational termination (GO:0006415)3.32505442
45postsynaptic membrane organization (GO:0001941)3.31548359
46forebrain neuron differentiation (GO:0021879)3.30177030
47retinal ganglion cell axon guidance (GO:0031290)3.28394907
48fear response (GO:0042596)3.27947643
49urinary tract smooth muscle contraction (GO:0014848)3.24410262
50tongue development (GO:0043586)3.20172381
51negative regulation of glial cell differentiation (GO:0045686)3.20052318
52regulation of oligodendrocyte differentiation (GO:0048713)3.18329483
53cell wall macromolecule catabolic process (GO:0016998)3.16349812
54regulation of mesenchymal cell apoptotic process (GO:2001053)3.15861719
55behavioral response to nicotine (GO:0035095)3.13639100
56presynaptic membrane organization (GO:0097090)3.11948530
57neuron fate determination (GO:0048664)3.11878821
58negative regulation of axon guidance (GO:1902668)3.11353982
59axonemal dynein complex assembly (GO:0070286)3.09317104
60behavioral response to ethanol (GO:0048149)3.08887429
61adaptation of signaling pathway (GO:0023058)3.04154655
62axon extension involved in axon guidance (GO:0048846)3.01985345
63neuron projection extension involved in neuron projection guidance (GO:1902284)3.01985345
64regulation of astrocyte differentiation (GO:0048710)2.96910515
65cerebral cortex neuron differentiation (GO:0021895)2.96204869
66regulation of penile erection (GO:0060405)2.95340662
67Notch signaling involved in heart development (GO:0061314)2.93488342
68prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.92729893
69heart trabecula morphogenesis (GO:0061384)2.92277553
70gamma-aminobutyric acid transport (GO:0015812)2.86933829
71endocardial cushion morphogenesis (GO:0003203)2.85964636
72regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.85693055
73smoothened signaling pathway (GO:0007224)2.85017701
74epithelial cilium movement (GO:0003351)2.83261305
75regulation of transcription regulatory region DNA binding (GO:2000677)2.82763534
76intraciliary transport (GO:0042073)2.80558229
77negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.77251056
78negative regulation of translation, ncRNA-mediated (GO:0040033)2.77251056
79regulation of translation, ncRNA-mediated (GO:0045974)2.77251056
80positive regulation of developmental pigmentation (GO:0048087)2.76767566
81cilium organization (GO:0044782)2.74861032
82mesenchymal cell differentiation (GO:0048762)2.74164452
83short-term memory (GO:0007614)2.72907211
84cilium assembly (GO:0042384)2.71061047
85cell wall macromolecule metabolic process (GO:0044036)2.69537533
86regulation of timing of cell differentiation (GO:0048505)2.69321749
87prostate gland growth (GO:0060736)2.67002387
88positive regulation of gastrulation (GO:2000543)2.66790667
89detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.66462283
90startle response (GO:0001964)2.60942189
91transmission of nerve impulse (GO:0019226)2.60827487
92regulation of neurotransmitter uptake (GO:0051580)2.60487876
93negative regulation of DNA binding (GO:0043392)2.59402231
94cotranslational protein targeting to membrane (GO:0006613)2.59394363
95outer ear morphogenesis (GO:0042473)2.57614834
96neuroblast proliferation (GO:0007405)2.57267893
97cilium morphogenesis (GO:0060271)2.56729667
98photoreceptor cell development (GO:0042461)2.53792339
99chaperone-mediated protein transport (GO:0072321)2.53391656
100SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.51414336

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RBPJ_22232070_ChIP-Seq_NCS_Mouse3.86875182
2EZH2_22144423_ChIP-Seq_EOC_Human3.56960398
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.44672612
4VDR_22108803_ChIP-Seq_LS180_Human2.93914556
5TAF15_26573619_Chip-Seq_HEK293_Human2.70071513
6GBX2_23144817_ChIP-Seq_PC3_Human2.68904385
7CBX2_27304074_Chip-Seq_ESCs_Mouse2.65429258
8FUS_26573619_Chip-Seq_HEK293_Human2.55617847
9AR_21572438_ChIP-Seq_LNCaP_Human2.51034073
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.40285036
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.38301398
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.37541107
13EWS_26573619_Chip-Seq_HEK293_Human2.32391056
14CTBP1_25329375_ChIP-Seq_LNCAP_Human2.30329582
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.28229027
16BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.19172235
17IGF1R_20145208_ChIP-Seq_DFB_Human2.17647465
18ZNF274_21170338_ChIP-Seq_K562_Hela2.13397939
19BMI1_23680149_ChIP-Seq_NPCS_Mouse2.11469562
20POU3F2_20337985_ChIP-ChIP_501MEL_Human2.09615090
21POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.03347386
22TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.03347386
23P300_19829295_ChIP-Seq_ESCs_Human2.01521260
24TP63_19390658_ChIP-ChIP_HaCaT_Human1.92743813
25JARID2_20064375_ChIP-Seq_MESCs_Mouse1.90986133
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.89806065
27CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.89328008
28POU5F1_16153702_ChIP-ChIP_HESCs_Human1.88125846
29PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.82898983
30CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.74906207
31PIAS1_25552417_ChIP-Seq_VCAP_Human1.72275689
32ER_23166858_ChIP-Seq_MCF-7_Human1.68790912
33SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.68169852
34SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.67140813
35EED_16625203_ChIP-ChIP_MESCs_Mouse1.60412558
36RNF2_27304074_Chip-Seq_NSC_Mouse1.59189810
37AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.58736286
38SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.56858898
39SMAD4_21799915_ChIP-Seq_A2780_Human1.53714640
40SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.52696538
41RNF2_27304074_Chip-Seq_ESCs_Mouse1.52167337
42JARID2_20075857_ChIP-Seq_MESCs_Mouse1.50357421
43UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.48373562
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.47695985
45SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.46534087
46MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43794522
47AR_25329375_ChIP-Seq_VCAP_Human1.43577399
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.43377404
49CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41260385
50SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.40735383
51MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.38944684
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37557277
53HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.37446046
54BCAT_22108803_ChIP-Seq_LS180_Human1.37228036
55REST_21632747_ChIP-Seq_MESCs_Mouse1.35293919
56SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.34916139
57STAT3_23295773_ChIP-Seq_U87_Human1.32785471
58SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31374475
59RNF2_18974828_ChIP-Seq_MESCs_Mouse1.27268666
60EZH2_18974828_ChIP-Seq_MESCs_Mouse1.27268666
61TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.26454435
62ESR1_20079471_ChIP-ChIP_T-47D_Human1.24953301
63NR3C1_21868756_ChIP-Seq_MCF10A_Human1.23987194
64MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.23224615
65TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.23062390
66SOX2_19829295_ChIP-Seq_ESCs_Human1.22815203
67NANOG_19829295_ChIP-Seq_ESCs_Human1.22815203
68IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.22166126
69CBP_20019798_ChIP-Seq_JUKART_Human1.22166126
70NANOG_18555785_Chip-Seq_ESCs_Mouse1.22063372
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20992056
72TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20160366
73EZH2_27294783_Chip-Seq_ESCs_Mouse1.19963427
74LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18785206
75RUNX2_22187159_ChIP-Seq_PCA_Human1.18633732
76SUZ12_27294783_Chip-Seq_ESCs_Mouse1.17911550
77RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.17525397
78PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.17098518
79TCF4_22108803_ChIP-Seq_LS180_Human1.14408732
80PCGF2_27294783_Chip-Seq_NPCs_Mouse1.12557828
81NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.12027963
82TP53_16413492_ChIP-PET_HCT116_Human1.10682081
83GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.09805786
84RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08498131
85RXR_22108803_ChIP-Seq_LS180_Human1.08151882
86EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.07419108
87SALL1_21062744_ChIP-ChIP_HESCs_Human1.07071551
88TP53_18474530_ChIP-ChIP_U2OS_Human1.06202444
89NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05626706
90TP53_20018659_ChIP-ChIP_R1E_Mouse1.05423139
91MTF2_20144788_ChIP-Seq_MESCs_Mouse1.04580943
92EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.04345172
93AUTS2_25519132_ChIP-Seq_293T-REX_Human1.03955385
94TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03547488
95P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03068290
96KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02859030
97HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.02848383
98STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.02529111
99P53_22387025_ChIP-Seq_ESCs_Mouse1.02454506
100PRDM14_20953172_ChIP-Seq_ESCs_Human1.02275701

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color6.44236278
2MP0000372_irregular_coat_pigmentation5.38085561
3MP0000566_synostosis5.04330041
4MP0009379_abnormal_foot_pigmentation4.13794407
5MP0002938_white_spotting3.09894899
6MP0002653_abnormal_ependyma_morphology2.75697060
7MP0000569_abnormal_digit_pigmentation2.75485721
8MP0008961_abnormal_basal_metabolism2.69408482
9MP0010030_abnormal_orbit_morphology2.44769932
10MP0004142_abnormal_muscle_tone2.39673521
11MP0002822_catalepsy2.38735352
12MP0003880_abnormal_central_pattern2.22193757
13MP0005174_abnormal_tail_pigmentation1.98914449
14MP0000778_abnormal_nervous_system1.89774732
15MP0002282_abnormal_trachea_morphology1.83022638
16MP0003938_abnormal_ear_development1.81920039
17MP0005423_abnormal_somatic_nervous1.78079539
18MP0006292_abnormal_olfactory_placode1.77914255
19MP0000579_abnormal_nail_morphology1.70419464
20MP0000537_abnormal_urethra_morphology1.67382668
21MP0004742_abnormal_vestibular_system1.67245244
22MP0004885_abnormal_endolymph1.66163508
23MP0002095_abnormal_skin_pigmentation1.61847376
24MP0001346_abnormal_lacrimal_gland1.58204069
25MP0001324_abnormal_eye_pigmentation1.54788331
26MP0000631_abnormal_neuroendocrine_gland1.50034486
27MP0005171_absent_coat_pigmentation1.49696661
28MP0000049_abnormal_middle_ear1.48418538
29MP0001485_abnormal_pinna_reflex1.47085990
30MP0002928_abnormal_bile_duct1.45189693
31MP0002277_abnormal_respiratory_mucosa1.42400931
32MP0006072_abnormal_retinal_apoptosis1.39076259
33MP0009745_abnormal_behavioral_response1.38561518
34MP0001293_anophthalmia1.33163366
35MP0000026_abnormal_inner_ear1.31592800
36MP0002733_abnormal_thermal_nociception1.31459367
37MP0001286_abnormal_eye_development1.31041106
38MP0002249_abnormal_larynx_morphology1.28583005
39MP0009250_abnormal_appendicular_skeleto1.26885630
40MP0005551_abnormal_eye_electrophysiolog1.26528419
41MP0004133_heterotaxia1.26257694
42MP0005084_abnormal_gallbladder_morpholo1.23832758
43MP0003011_delayed_dark_adaptation1.23411689
44MP0000383_abnormal_hair_follicle1.22118436
45MP0002736_abnormal_nociception_after1.21026372
46MP0003937_abnormal_limbs/digits/tail_de1.20581690
47MP0001968_abnormal_touch/_nociception1.20392534
48MP0002735_abnormal_chemical_nociception1.17891274
49MP0001188_hyperpigmentation1.16789667
50MP0002272_abnormal_nervous_system1.14984185
51MP0005377_hearing/vestibular/ear_phenot1.11605001
52MP0003878_abnormal_ear_physiology1.11605001
53MP0002572_abnormal_emotion/affect_behav1.10824243
54MP0001970_abnormal_pain_threshold1.10070990
55MP0003755_abnormal_palate_morphology1.09005447
56MP0002697_abnormal_eye_size1.08671695
57MP0001440_abnormal_grooming_behavior1.06521435
58MP0005187_abnormal_penis_morphology1.04627695
59MP0001984_abnormal_olfaction1.01654616
60MP0006276_abnormal_autonomic_nervous1.01199103
61MP0002067_abnormal_sensory_capabilities0.99342895
62MP0002064_seizures0.98748560
63MP0008995_early_reproductive_senescence0.98079947
64MP0000647_abnormal_sebaceous_gland0.97729673
65MP0003195_calcinosis0.97578416
66MP0008789_abnormal_olfactory_epithelium0.97503246
67MP0003959_abnormal_lean_body0.95830113
68MP0001486_abnormal_startle_reflex0.93770594
69MP0005195_abnormal_posterior_eye0.93430483
70MP0002557_abnormal_social/conspecific_i0.90672647
71MP0002734_abnormal_mechanical_nocicepti0.90271169
72MP0003122_maternal_imprinting0.89214505
73MP0008569_lethality_at_weaning0.85552114
74MP0002102_abnormal_ear_morphology0.82351584
75MP0002075_abnormal_coat/hair_pigmentati0.81326905
76MP0003942_abnormal_urinary_system0.80815835
77MP0003635_abnormal_synaptic_transmissio0.79940830
78MP0000762_abnormal_tongue_morphology0.79608775
79MP0003638_abnormal_response/metabolism_0.79471760
80MP0001963_abnormal_hearing_physiology0.79216336
81MP0005253_abnormal_eye_physiology0.78862263
82MP0000534_abnormal_ureter_morphology0.75055419
83MP0002752_abnormal_somatic_nervous0.74693648
84MP0000371_diluted_coat_color0.73653313
85MP0000427_abnormal_hair_cycle0.73149635
86MP0009384_cardiac_valve_regurgitation0.71214562
87MP0002063_abnormal_learning/memory/cond0.70781872
88MP0003121_genomic_imprinting0.70766840
89MP0005391_vision/eye_phenotype0.67729131
90MP0002152_abnormal_brain_morphology0.64596100
91MP0002234_abnormal_pharynx_morphology0.63905792
92MP0002233_abnormal_nose_morphology0.62942099
93MP0002751_abnormal_autonomic_nervous0.62679119
94MP0000015_abnormal_ear_pigmentation0.62032700
95MP0001879_abnormal_lymphatic_vessel0.61195684
96MP0003861_abnormal_nervous_system0.60979815
97MP0001529_abnormal_vocalization0.60188620
98MP0002116_abnormal_craniofacial_bone0.59708440
99MP0002882_abnormal_neuron_morphology0.58980060
100MP0003890_abnormal_embryonic-extraembry0.58968849

Predicted human phenotypes

RankGene SetZ-score
1Absent/shortened dynein arms (HP:0200106)4.52066219
2Dynein arm defect of respiratory motile cilia (HP:0012255)4.52066219
3Abnormality of the phalanges of the 2nd finger (HP:0009541)4.40090431
4Abnormality of midbrain morphology (HP:0002418)3.99795721
5Molar tooth sign on MRI (HP:0002419)3.99795721
6Pancreatic fibrosis (HP:0100732)3.97135763
7True hermaphroditism (HP:0010459)3.89237709
8Concave nail (HP:0001598)3.76263691
9Pancreatic cysts (HP:0001737)3.66927050
10Focal motor seizures (HP:0011153)3.64232898
11Abnormality of the parietal bone (HP:0002696)3.56985609
12Partial duplication of the phalanx of hand (HP:0009999)3.38486990
13Abnormal respiratory epithelium morphology (HP:0012253)3.33036208
14Abnormal respiratory motile cilium morphology (HP:0005938)3.33036208
15Septo-optic dysplasia (HP:0100842)3.23438999
16Abnormality of the labia minora (HP:0012880)3.21891580
17Esophageal atresia (HP:0002032)3.14055615
18Medial flaring of the eyebrow (HP:0010747)3.09309349
19Coronal craniosynostosis (HP:0004440)3.08219774
20Atonic seizures (HP:0010819)3.06684735
21Nephronophthisis (HP:0000090)3.06368351
22Intellectual disability, moderate (HP:0002342)2.86772008
23Abnormal ciliary motility (HP:0012262)2.80729025
24Reticulocytopenia (HP:0001896)2.80367162
25Genital tract atresia (HP:0001827)2.79625146
26Chronic otitis media (HP:0000389)2.78789043
27Vaginal atresia (HP:0000148)2.76744943
28Gait imbalance (HP:0002141)2.73679507
29Stomach cancer (HP:0012126)2.66775176
30Anencephaly (HP:0002323)2.65354414
31Progressive cerebellar ataxia (HP:0002073)2.64487666
32Abnormal respiratory motile cilium physiology (HP:0012261)2.63929494
33Cystic liver disease (HP:0006706)2.60356156
34Abnormality of the 2nd finger (HP:0004100)2.52105479
35Abnormality of the renal medulla (HP:0100957)2.49386446
36Congenital primary aphakia (HP:0007707)2.49213822
37Absent septum pellucidum (HP:0001331)2.47751641
38Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.47348843
39Rib fusion (HP:0000902)2.42434958
40Hyperventilation (HP:0002883)2.38895089
41Buphthalmos (HP:0000557)2.32570064
42Long nose (HP:0003189)2.31057944
43Absence seizures (HP:0002121)2.30688799
44Aqueductal stenosis (HP:0002410)2.29695291
45Abnormality of incisor morphology (HP:0011063)2.29558496
46Stenosis of the external auditory canal (HP:0000402)2.28106612
47Dialeptic seizures (HP:0011146)2.28019068
48Gastrointestinal atresia (HP:0002589)2.27425738
49Aplasia/Hypoplasia of the tongue (HP:0010295)2.23973665
50Abnormal number of erythroid precursors (HP:0012131)2.23598844
51Partial duplication of thumb phalanx (HP:0009944)2.23234081
52Sclerocornea (HP:0000647)2.21494900
53Abnormality of the septum pellucidum (HP:0007375)2.15326722
54Nephrogenic diabetes insipidus (HP:0009806)2.14890791
55Abnormality of cells of the erythroid lineage (HP:0012130)2.05177532
56Maternal diabetes (HP:0009800)2.02405730
57Broad distal phalanx of finger (HP:0009836)2.02275883
58Anophthalmia (HP:0000528)2.01699479
59Tubular atrophy (HP:0000092)2.01073373
60Congenital hepatic fibrosis (HP:0002612)1.99243102
61Abnormality of the renal cortex (HP:0011035)1.99224112
62Abnormality of the middle phalanges of the toes (HP:0010183)1.99005851
63Postaxial hand polydactyly (HP:0001162)1.98021579
64Optic nerve hypoplasia (HP:0000609)1.97431452
65Postaxial foot polydactyly (HP:0001830)1.94551275
66Hemiparesis (HP:0001269)1.94178793
67Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.94121364
68Chronic hepatic failure (HP:0100626)1.94072083
69Synostosis involving the elbow (HP:0003938)1.93444108
70Humeroradial synostosis (HP:0003041)1.93444108
71Abnormality of the diencephalon (HP:0010662)1.91866915
72Febrile seizures (HP:0002373)1.90270661
73Broad-based gait (HP:0002136)1.89667769
74Morphological abnormality of the middle ear (HP:0008609)1.88441045
75Focal seizures (HP:0007359)1.86603439
76Poor coordination (HP:0002370)1.86456787
77Choroideremia (HP:0001139)1.86276877
78Abnormality of the nasolacrimal system (HP:0000614)1.84798899
79Rhinitis (HP:0012384)1.84483594
80Male pseudohermaphroditism (HP:0000037)1.83873034
81Midline defect of the nose (HP:0004122)1.80827470
82Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.80504440
83Short 4th metacarpal (HP:0010044)1.80504440
84Cutaneous finger syndactyly (HP:0010554)1.79019025
85Facial hemangioma (HP:0000329)1.78314207
86Myelomeningocele (HP:0002475)1.77357541
87Congenital, generalized hypertrichosis (HP:0004540)1.77017237
88Supernumerary bones of the axial skeleton (HP:0009144)1.76144402
89Tubulointerstitial nephritis (HP:0001970)1.75948954
90Congenital stationary night blindness (HP:0007642)1.75325898
91Trigonocephaly (HP:0000243)1.75054149
92Megalencephaly (HP:0001355)1.74490482
93Furrowed tongue (HP:0000221)1.74447958
94Broad metatarsal (HP:0001783)1.74293822
95Turricephaly (HP:0000262)1.73794833
96Respiratory distress (HP:0002098)1.73612300
97Myokymia (HP:0002411)1.72732958
98Sleep apnea (HP:0010535)1.72446340
99Aplasia/Hypoplasia of the lens (HP:0008063)1.72377614
100Hypoplastic labia majora (HP:0000059)1.71784087

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK3.87843230
2FGFR23.72346966
3MAPK153.40582572
4PNCK3.34093363
5EPHB23.07883856
6TNIK2.96982759
7TAOK32.64146931
8MAP3K122.31365571
9NUAK12.17253400
10EPHA42.16509195
11WEE12.13339392
12MARK12.05741497
13MAP3K42.03718348
14STK38L2.01974352
15WNK42.01832129
16WNK31.94459914
17PKN11.73880600
18VRK11.68741653
19NTRK21.64816982
20DYRK31.58944615
21STK391.57683259
22FRK1.51899342
23PINK11.50601340
24MAPK131.49724266
25ADRBK21.47475488
26EPHA31.44904305
27MAP2K41.41777794
28DYRK21.36941351
29PASK1.34253586
30STK241.33908696
31BMPR1B1.24021472
32BUB11.22845355
33TXK1.20778130
34MAP3K61.15495319
35BCKDK1.12288457
36PRKCG1.10816009
37VRK21.09020757
38GRK71.08750910
39STK161.05928382
40GRK11.01756565
41SGK21.01650936
42PAK31.00743945
43INSRR1.00672710
44ADRBK10.92370133
45TYRO30.91871029
46CDK30.91206948
47MAP2K70.89881176
48LATS10.88662210
49WNK10.88366100
50BRSK20.86958517
51STK30.85857229
52PRKCE0.80026351
53TGFBR10.78705767
54ACVR1B0.77487566
55TLK10.75279408
56MKNK20.74608512
57MARK30.74409149
58FGFR10.74253202
59SGK2230.73834684
60SGK4940.73834684
61SGK10.71777692
62MAPK70.69402262
63RPS6KA40.69345287
64MKNK10.65487841
65PIK3CA0.62003490
66PTK2B0.59385526
67PRKCQ0.58247486
68NLK0.57819744
69DYRK1A0.57179767
70DDR20.56068583
71PRKG10.53187013
72MAP3K50.50579783
73MAP4K20.49766159
74MUSK0.49418004
75MINK10.48478042
76PHKG20.47977675
77PHKG10.47977675
78PRKACB0.47244361
79PRKCZ0.42810232
80ERBB20.42375507
81UHMK10.39272460
82ITK0.39231429
83NEK20.37739026
84RPS6KA50.37726787
85PRKACA0.37217333
86PLK40.37043165
87PLK30.36363458
88OBSCN0.34585651
89CHUK0.31427067
90PLK20.30175177
91MATK0.29412785
92SIK20.26312163
93IKBKE0.25420376
94TEC0.25035790
95ZAK0.24541907
96CDK190.23817435
97CDK80.23563012
98RPS6KA10.23463682
99CAMK2A0.22450386
100OXSR10.22363198

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.70135212
2Ribosome_Homo sapiens_hsa030103.41161582
3Parkinsons disease_Homo sapiens_hsa050122.87432634
4Nicotine addiction_Homo sapiens_hsa050332.43707269
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.43614579
6Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.37541861
7Cardiac muscle contraction_Homo sapiens_hsa042602.17148264
8TGF-beta signaling pathway_Homo sapiens_hsa043502.09258735
9Alzheimers disease_Homo sapiens_hsa050102.01107823
10Huntingtons disease_Homo sapiens_hsa050161.89953358
11Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.89407060
12Cocaine addiction_Homo sapiens_hsa050301.88877326
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.80809522
14Gap junction_Homo sapiens_hsa045401.76504353
15Fanconi anemia pathway_Homo sapiens_hsa034601.75134968
16Phototransduction_Homo sapiens_hsa047441.72864497
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.58277617
18Primary bile acid biosynthesis_Homo sapiens_hsa001201.49766834
19Linoleic acid metabolism_Homo sapiens_hsa005911.49650933
20Serotonergic synapse_Homo sapiens_hsa047261.46962521
21Protein export_Homo sapiens_hsa030601.46863176
22Collecting duct acid secretion_Homo sapiens_hsa049661.44025882
23Folate biosynthesis_Homo sapiens_hsa007901.36625547
24Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.32583093
25Glutamatergic synapse_Homo sapiens_hsa047241.31505907
26Dorso-ventral axis formation_Homo sapiens_hsa043201.28060667
27Basal cell carcinoma_Homo sapiens_hsa052171.25410718
28Hedgehog signaling pathway_Homo sapiens_hsa043401.25144842
29Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.21319005
30Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.19683973
31Butanoate metabolism_Homo sapiens_hsa006501.14776979
32alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.13839109
33Maturity onset diabetes of the young_Homo sapiens_hsa049501.12778738
34Olfactory transduction_Homo sapiens_hsa047401.12437204
35Nitrogen metabolism_Homo sapiens_hsa009101.12409092
36Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.12178086
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.10275061
38Chemical carcinogenesis_Homo sapiens_hsa052041.09919782
39Calcium signaling pathway_Homo sapiens_hsa040201.09691410
40Taste transduction_Homo sapiens_hsa047421.08432413
41Circadian entrainment_Homo sapiens_hsa047131.05855926
42Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.04183310
43Basal transcription factors_Homo sapiens_hsa030221.02603354
44Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.02284202
45Tryptophan metabolism_Homo sapiens_hsa003801.02259570
46Morphine addiction_Homo sapiens_hsa050321.00395897
47Homologous recombination_Homo sapiens_hsa034401.00366719
48Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.98447458
49Caffeine metabolism_Homo sapiens_hsa002320.96963129
50Amphetamine addiction_Homo sapiens_hsa050310.94707744
51GABAergic synapse_Homo sapiens_hsa047270.92081048
52NOD-like receptor signaling pathway_Homo sapiens_hsa046210.91946735
53ABC transporters_Homo sapiens_hsa020100.90903723
54Steroid biosynthesis_Homo sapiens_hsa001000.89577868
55Rheumatoid arthritis_Homo sapiens_hsa053230.89504329
56Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.86749842
57Dopaminergic synapse_Homo sapiens_hsa047280.85796419
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.84460845
59Ether lipid metabolism_Homo sapiens_hsa005650.81392743
60Retinol metabolism_Homo sapiens_hsa008300.79547273
61Steroid hormone biosynthesis_Homo sapiens_hsa001400.79072443
62Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.78932170
63Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.77710209
64Axon guidance_Homo sapiens_hsa043600.77381698
65cAMP signaling pathway_Homo sapiens_hsa040240.77200909
66Cholinergic synapse_Homo sapiens_hsa047250.74747670
67RNA degradation_Homo sapiens_hsa030180.72676307
68Vitamin digestion and absorption_Homo sapiens_hsa049770.64021612
69Intestinal immune network for IgA production_Homo sapiens_hsa046720.61340279
70Renin secretion_Homo sapiens_hsa049240.61112062
71Insulin secretion_Homo sapiens_hsa049110.59730256
72Hippo signaling pathway_Homo sapiens_hsa043900.58173234
73Asthma_Homo sapiens_hsa053100.57173483
74Mineral absorption_Homo sapiens_hsa049780.56172272
75Arachidonic acid metabolism_Homo sapiens_hsa005900.55078896
76Circadian rhythm_Homo sapiens_hsa047100.53426264
77Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.52247384
78Propanoate metabolism_Homo sapiens_hsa006400.51615651
79Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50627297
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.50438184
81Wnt signaling pathway_Homo sapiens_hsa043100.41971520
82Peroxisome_Homo sapiens_hsa041460.41667440
83Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.40552990
84Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39250428
85Salivary secretion_Homo sapiens_hsa049700.37414788
86Alcoholism_Homo sapiens_hsa050340.34526510
87beta-Alanine metabolism_Homo sapiens_hsa004100.34035085
88Vascular smooth muscle contraction_Homo sapiens_hsa042700.32940507
89Graft-versus-host disease_Homo sapiens_hsa053320.32587227
90Oxytocin signaling pathway_Homo sapiens_hsa049210.31522974
91Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31514064
92Glycerolipid metabolism_Homo sapiens_hsa005610.30059638
93MAPK signaling pathway_Homo sapiens_hsa040100.29437592
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28747966
95RNA polymerase_Homo sapiens_hsa030200.28320348
96Hematopoietic cell lineage_Homo sapiens_hsa046400.28294783
97Type I diabetes mellitus_Homo sapiens_hsa049400.28266871
98Carbohydrate digestion and absorption_Homo sapiens_hsa049730.26449103
99Malaria_Homo sapiens_hsa051440.25758056
100Melanoma_Homo sapiens_hsa052180.25593730

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