NBPF4

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
1nuclear pore complex assembly (GO:0051292)6.83122902
2regulation of histone H3-K27 methylation (GO:0061085)5.97348674
3nuclear pore organization (GO:0006999)5.72336024
4protein-DNA complex disassembly (GO:0032986)5.28141965
5nucleosome disassembly (GO:0006337)5.28141965
6COPI coating of Golgi vesicle (GO:0048205)5.20421545
7Golgi transport vesicle coating (GO:0048200)5.20421545
8pore complex assembly (GO:0046931)4.98448016
9regulation of translational fidelity (GO:0006450)4.89469818
10chromosome condensation (GO:0030261)4.59605014
11synapsis (GO:0007129)4.53345106
12DNA unwinding involved in DNA replication (GO:0006268)4.52671649
13homocysteine metabolic process (GO:0050667)4.45224961
14diterpenoid biosynthetic process (GO:0016102)4.42503720
15mitotic chromosome condensation (GO:0007076)4.26480395
16DNA packaging (GO:0006323)4.23958716
17binding of sperm to zona pellucida (GO:0007339)4.21130726
18regulation of histone H3-K4 methylation (GO:0051569)4.16236637
19DNA replication initiation (GO:0006270)4.11582624
20mitotic nuclear envelope disassembly (GO:0007077)3.96071779
21regulation of RNA export from nucleus (GO:0046831)3.89879433
22mitotic sister chromatid segregation (GO:0000070)3.85657949
23male meiosis (GO:0007140)3.79430294
24DNA replication checkpoint (GO:0000076)3.79089880
25TOR signaling (GO:0031929)3.75759722
26sister chromatid segregation (GO:0000819)3.75132582
27proline biosynthetic process (GO:0006561)3.74408640
28regulation of centriole replication (GO:0046599)3.72895866
29DNA topological change (GO:0006265)3.71813507
30regulation of nucleobase-containing compound transport (GO:0032239)3.62664612
31nuclear envelope disassembly (GO:0051081)3.62580507
32membrane disassembly (GO:0030397)3.62580507
33protein export from nucleus (GO:0006611)3.62510386
34DNA synthesis involved in DNA repair (GO:0000731)3.61905231
35face development (GO:0060324)3.50604064
36potassium ion export (GO:0071435)3.48074429
37terpenoid biosynthetic process (GO:0016114)3.47930870
38poly(A)+ mRNA export from nucleus (GO:0016973)3.47568623
39definitive hemopoiesis (GO:0060216)3.47386132
40regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.42152977
41microtubule depolymerization (GO:0007019)3.36640350
42formation of translation preinitiation complex (GO:0001731)3.35246555
43DNA conformation change (GO:0071103)3.33274518
44DNA strand elongation (GO:0022616)3.31533414
45DNA strand elongation involved in DNA replication (GO:0006271)3.31476503
46midgut development (GO:0007494)3.28258330
47regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.26551161
48chromosome organization involved in meiosis (GO:0070192)3.24408273
49acrosome reaction (GO:0007340)3.14220916
50glucose 6-phosphate metabolic process (GO:0051156)3.13343023
51histone H3-K9 demethylation (GO:0033169)3.12765407
52sperm-egg recognition (GO:0035036)3.12343972
53erythrocyte maturation (GO:0043249)3.12240197
54regulation of histone methylation (GO:0031060)3.10666408
55folic acid-containing compound biosynthetic process (GO:0009396)3.08879553
56negative regulation of erythrocyte differentiation (GO:0045647)3.06715551
57response to vitamin A (GO:0033189)3.04092877
58mRNA cleavage (GO:0006379)2.99039290
59resolution of meiotic recombination intermediates (GO:0000712)2.99032627
60retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.95970298
61COPII vesicle coating (GO:0048208)2.92688322
62cellular zinc ion homeostasis (GO:0006882)2.91098814
63regulation of centrosome cycle (GO:0046605)2.89649628
64spermatid development (GO:0007286)2.89594876
65glutamine family amino acid biosynthetic process (GO:0009084)2.89136033
66regulation of translational elongation (GO:0006448)2.88773676
67vesicle coating (GO:0006901)2.88080285
68peptidyl-arginine omega-N-methylation (GO:0035247)2.87038405
69telomere maintenance via semi-conservative replication (GO:0032201)2.85957827
70DNA duplex unwinding (GO:0032508)2.83974608
71nucleobase-containing small molecule interconversion (GO:0015949)2.81725707
72protein complex localization (GO:0031503)2.80795704
73DNA methylation involved in gamete generation (GO:0043046)2.80023676
74spliceosomal tri-snRNP complex assembly (GO:0000244)2.78510255
75regulation of mitotic spindle organization (GO:0060236)2.78487255
76gas transport (GO:0015669)2.78216647
77nuclear envelope organization (GO:0006998)2.75460527
78ribosome biogenesis (GO:0042254)2.75117730
79chromosome segregation (GO:0007059)2.73751513
80negative regulation of histone methylation (GO:0031061)2.73288565
81regulation of phosphoprotein phosphatase activity (GO:0043666)2.73272345
82tRNA aminoacylation for protein translation (GO:0006418)2.72038081
83DNA geometric change (GO:0032392)2.71045311
84mitotic sister chromatid cohesion (GO:0007064)2.69962128
85vitamin A metabolic process (GO:0006776)2.69039331
86meiotic chromosome segregation (GO:0045132)2.67784119
87positive regulation of DNA-dependent DNA replication (GO:2000105)2.66818516
88protoporphyrinogen IX metabolic process (GO:0046501)2.66781267
89motile cilium assembly (GO:0044458)2.63252715
90snRNA metabolic process (GO:0016073)2.61186010
91rRNA methylation (GO:0031167)2.59840164
92oxygen transport (GO:0015671)2.59261680
93regulation of DNA damage checkpoint (GO:2000001)2.58309367
94cell-cell recognition (GO:0009988)2.56555050
95amino acid activation (GO:0043038)2.56112275
96tRNA aminoacylation (GO:0043039)2.56112275
97regulation of centrosome duplication (GO:0010824)2.55649553
98maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.53350222
99intra-S DNA damage checkpoint (GO:0031573)2.52973766
100negative regulation of cell size (GO:0045792)2.52247037

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.65702593
2FOXM1_23109430_ChIP-Seq_U2OS_Human3.71338506
3ZNF263_19887448_ChIP-Seq_K562_Human3.34972081
4HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.09125184
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.86330357
6MYC_18555785_ChIP-Seq_MESCs_Mouse2.77403197
7ESR1_20079471_ChIP-ChIP_T-47D_Human2.52319532
8MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.47683476
9FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.43601737
10NCOR1_26117541_ChIP-Seq_K562_Human2.37102371
11EGR1_19374776_ChIP-ChIP_THP-1_Human2.36229042
12XRN2_22483619_ChIP-Seq_HELA_Human2.16482395
13MYC_22102868_ChIP-Seq_BL_Human2.11130265
14MYC_19079543_ChIP-ChIP_MESCs_Mouse2.08300787
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.04883752
16MYC_18358816_ChIP-ChIP_MESCs_Mouse2.04103735
17KDM5A_27292631_Chip-Seq_BREAST_Human1.93743474
18AR_21909140_ChIP-Seq_LNCAP_Human1.84692348
19MYC_19030024_ChIP-ChIP_MESCs_Mouse1.84554454
20DCP1A_22483619_ChIP-Seq_HELA_Human1.83715835
21JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.82548130
22RACK7_27058665_Chip-Seq_MCF-7_Human1.75405690
23GATA1_19941826_ChIP-Seq_K562_Human1.73578478
24E2F1_21310950_ChIP-Seq_MCF-7_Human1.72421659
25LXR_22292898_ChIP-Seq_THP-1_Human1.72025627
26PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.71430734
27DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.71257506
28TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.70856741
29VDR_21846776_ChIP-Seq_THP-1_Human1.66640228
30* RUNX1_27514584_Chip-Seq_MCF-7_Human1.66569721
31POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.66532658
32CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.66290879
33GATA1_22025678_ChIP-Seq_K562_Human1.61053399
34ETS1_20019798_ChIP-Seq_JURKAT_Human1.59501442
35ESR1_15608294_ChIP-ChIP_MCF-7_Human1.58363772
36ZFX_18555785_ChIP-Seq_MESCs_Mouse1.56791663
37CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.55401546
38KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.50871326
39BP1_19119308_ChIP-ChIP_Hs578T_Human1.48748876
40KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.47651425
41KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.47087797
42MYCN_18555785_ChIP-Seq_MESCs_Mouse1.46399123
43TTF2_22483619_ChIP-Seq_HELA_Human1.45718300
44ESR1_21235772_ChIP-Seq_MCF-7_Human1.43459999
45ESR2_21235772_ChIP-Seq_MCF-7_Human1.42707529
46GABP_19822575_ChIP-Seq_HepG2_Human1.42358756
47KLF4_18555785_ChIP-Seq_MESCs_Mouse1.42263657
48NELFA_20434984_ChIP-Seq_ESCs_Mouse1.41648252
49CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.36758790
50SMC4_20622854_ChIP-Seq_HELA_Human1.31465898
51* PKCTHETA_26484144_Chip-Seq_BREAST_Human1.31111261
52ELK3_25401928_ChIP-Seq_HUVEC_Human1.29698733
53CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.29002702
54CHD1_26751641_Chip-Seq_LNCaP_Human1.28747940
55ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.28145993
56P68_20966046_ChIP-Seq_HELA_Human1.27268333
57TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26974346
58CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.26080992
59THAP11_20581084_ChIP-Seq_MESCs_Mouse1.25548573
60CIITA_25753668_ChIP-Seq_RAJI_Human1.24916188
61SPI1_23127762_ChIP-Seq_K562_Human1.21794044
62GATA2_19941826_ChIP-Seq_K562_Human1.20888329
63CREB1_15753290_ChIP-ChIP_HEK293T_Human1.20519353
64KDM2B_26808549_Chip-Seq_DND41_Human1.17642671
65YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.15643790
66STAT3_1855785_ChIP-Seq_MESCs_Mouse1.15524188
67BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13684256
68KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.13414459
69TFEB_21752829_ChIP-Seq_HELA_Human1.12712161
70ELF5_23300383_ChIP-Seq_T47D_Human1.10157556
71SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.09632487
72ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.09192545
73PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.08941662
74MAF_26560356_Chip-Seq_TH2_Human1.08482059
75SCL_19346495_ChIP-Seq_HPC-7_Human1.05361533
76GATA1_22383799_ChIP-Seq_G1ME_Mouse1.04568882
77ATF3_27146783_Chip-Seq_COLON_Human1.03600045
78E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.03377011
79MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.03227897
80FOXP3_21729870_ChIP-Seq_TREG_Human1.03103885
81TCF7_22412390_ChIP-Seq_EML_Mouse1.01529033
82NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.01132135
83CREB1_26743006_Chip-Seq_LNCaP_Human1.00668501
84ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.00348868
85SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.00153468
86KDM2B_26808549_Chip-Seq_K562_Human0.98930615
87* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.97964224
88KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.97608645
89CTCF_27219007_Chip-Seq_ERYTHROID_Human0.97210117
90KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.96849778
91E2F1_18555785_ChIP-Seq_MESCs_Mouse0.96839543
92TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95119840
93TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.94387770
94NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.93583594
95HIF1A_21447827_ChIP-Seq_MCF-7_Human0.93412927
96EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.90607732
97SA1_27219007_Chip-Seq_ERYTHROID_Human0.89085756
98GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.88927446
99KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.88878377
100CTCF_21964334_Chip-Seq_Bcells_Human0.88771854

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization4.32307431
2MP0003693_abnormal_embryo_hatching3.48211556
3MP0005451_abnormal_body_composition3.34452497
4MP0004957_abnormal_blastocyst_morpholog3.32246872
5MP0000678_abnormal_parathyroid_gland3.17432600
6MP0008995_early_reproductive_senescence3.16042784
7MP0010094_abnormal_chromosome_stability2.84780495
8MP0004264_abnormal_extraembryonic_tissu2.68306538
9MP0003111_abnormal_nucleus_morphology2.65646222
10MP0010234_abnormal_vibrissa_follicle2.38666531
11MP0005083_abnormal_biliary_tract2.37357585
12MP0004233_abnormal_muscle_weight2.30758643
13MP0003077_abnormal_cell_cycle2.24565250
14MP0009697_abnormal_copulation2.14764365
15MP0008932_abnormal_embryonic_tissue2.09749171
16MP0005076_abnormal_cell_differentiation2.09660616
17MP0004147_increased_porphyrin_level2.06491146
18MP0005058_abnormal_lysosome_morphology2.05361455
19MP0003315_abnormal_perineum_morphology2.01206355
20MP0003705_abnormal_hypodermis_morpholog2.00033859
21MP0008058_abnormal_DNA_repair1.98122944
22MP0002877_abnormal_melanocyte_morpholog1.97960718
23MP0001929_abnormal_gametogenesis1.93792572
24MP0008057_abnormal_DNA_replication1.93277197
25MP0002009_preneoplasia1.92301898
26MP0003698_abnormal_male_reproductive1.75661677
27MP0002132_abnormal_respiratory_system1.75011457
28MP0002249_abnormal_larynx_morphology1.71984419
29MP0010307_abnormal_tumor_latency1.66572512
30MP0003786_premature_aging1.65230386
31MP0008007_abnormal_cellular_replicative1.55841797
32MP0003718_maternal_effect1.54328502
33MP0004381_abnormal_hair_follicle1.53552840
34MP0001873_stomach_inflammation1.53318553
35MP0001730_embryonic_growth_arrest1.49056530
36MP0005409_darkened_coat_color1.48943551
37MP0002080_prenatal_lethality1.45861681
38MP0004782_abnormal_surfactant_physiolog1.43090377
39MP0002210_abnormal_sex_determination1.42972018
40MP0001697_abnormal_embryo_size1.42526278
41MP0003656_abnormal_erythrocyte_physiolo1.41556732
42MP0002796_impaired_skin_barrier1.40566976
43MP0002160_abnormal_reproductive_system1.36759027
44MP0005360_urolithiasis1.36108909
45MP0001727_abnormal_embryo_implantation1.35954351
46MP0001661_extended_life_span1.33928663
47MP0005380_embryogenesis_phenotype1.33183869
48MP0001672_abnormal_embryogenesis/_devel1.33183869
49MP0002086_abnormal_extraembryonic_tissu1.31797426
50MP0000350_abnormal_cell_proliferation1.28469417
51MP0003984_embryonic_growth_retardation1.26756902
52MP0002088_abnormal_embryonic_growth/wei1.24966972
53MP0002161_abnormal_fertility/fecundity1.19029051
54MP0000462_abnormal_digestive_system1.17256057
55MP0000313_abnormal_cell_death1.16797093
56MP0003942_abnormal_urinary_system1.15840943
57MP0001145_abnormal_male_reproductive1.11657173
58MP0002396_abnormal_hematopoietic_system1.11574785
59MP0004185_abnormal_adipocyte_glucose1.11338835
60MP0005501_abnormal_skin_physiology1.10332601
61MP0004808_abnormal_hematopoietic_stem1.09488695
62MP0009672_abnormal_birth_weight1.07543587
63MP0005647_abnormal_sex_gland1.05658013
64MP0006036_abnormal_mitochondrial_physio1.04697533
65MP0002085_abnormal_embryonic_tissue1.03810990
66MP0000681_abnormal_thyroid_gland1.02118960
67MP0001664_abnormal_digestion1.01977391
68MP0001881_abnormal_mammary_gland1.01408446
69MP0006035_abnormal_mitochondrial_morpho1.01066728
70MP0005408_hypopigmentation1.00258716
71MP0009931_abnormal_skin_appearance0.94857353
72MP0000653_abnormal_sex_gland0.94521865
73MP0001348_abnormal_lacrimal_gland0.94516934
74MP0000537_abnormal_urethra_morphology0.92721654
75MP0001545_abnormal_hematopoietic_system0.91347584
76MP0005397_hematopoietic_system_phenotyp0.91347584
77MP0000377_abnormal_hair_follicle0.90936931
78MP0009115_abnormal_fat_cell0.90332776
79MP0003936_abnormal_reproductive_system0.82867735
80MP0000383_abnormal_hair_follicle0.81418236
81MP0010630_abnormal_cardiac_muscle0.80313021
82MP0001849_ear_inflammation0.80139887
83MP0002970_abnormal_white_adipose0.80091776
84MP0009278_abnormal_bone_marrow0.79573145
85MP0000747_muscle_weakness0.79443097
86MP0000358_abnormal_cell_content/0.79356567
87MP0002084_abnormal_developmental_patter0.79040467
88MP0003385_abnormal_body_wall0.78236957
89MP0000490_abnormal_crypts_of0.76903124
90MP0003699_abnormal_female_reproductive0.76176302
91MP0010678_abnormal_skin_adnexa0.74651165
92MP0005666_abnormal_adipose_tissue0.74107102
93MP0002269_muscular_atrophy0.74093819
94MP0002019_abnormal_tumor_incidence0.73173783
95MP0000538_abnormal_urinary_bladder0.72413164
96MP0009840_abnormal_foam_cell0.72366448
97MP0008004_abnormal_stomach_pH0.71708240
98MP0000703_abnormal_thymus_morphology0.69529713
99MP0000609_abnormal_liver_physiology0.68763374
100MP0003959_abnormal_lean_body0.68352406

Predicted human phenotypes

RankGene SetZ-score
1Cholecystitis (HP:0001082)5.71497221
2Abnormal gallbladder physiology (HP:0012438)5.71497221
3Reticulocytosis (HP:0001923)5.17227336
4Truncus arteriosus (HP:0001660)4.69010250
5Hyperthyroidism (HP:0000836)4.43306572
6Ankyloglossia (HP:0010296)4.23595298
7Abnormality of reticulocytes (HP:0004312)4.12014062
8Chromsome breakage (HP:0040012)4.05284211
9Chromosomal breakage induced by crosslinking agents (HP:0003221)4.02832306
10Bowel incontinence (HP:0002607)3.77642501
11Hypoparathyroidism (HP:0000829)3.68550938
12Abnormal large intestine physiology (HP:0012700)3.60546026
13Septate vagina (HP:0001153)3.46532991
14Seborrheic dermatitis (HP:0001051)3.32087283
15J-shaped sella turcica (HP:0002680)3.19934399
16Abnormality of oral frenula (HP:0000190)3.17136883
17Ileus (HP:0002595)3.13464752
18Polycythemia (HP:0001901)3.11764593
19Asymmetry of the thorax (HP:0001555)3.04915583
20Cholelithiasis (HP:0001081)2.87739891
21Termporal pattern (HP:0011008)2.85585422
22Insidious onset (HP:0003587)2.85585422
23Birth length less than 3rd percentile (HP:0003561)2.67041201
24Atelectasis (HP:0100750)2.65957776
25Resting tremor (HP:0002322)2.64202304
26Abnormality of the tricuspid valve (HP:0001702)2.63972449
27Germ cell neoplasia (HP:0100728)2.61343488
28Dysmetric saccades (HP:0000641)2.60241864
29Hypertensive crisis (HP:0100735)2.60209603
30Patellar dislocation (HP:0002999)2.56329573
31Homocystinuria (HP:0002156)2.56226219
32Abnormality of homocysteine metabolism (HP:0010919)2.56226219
33Colitis (HP:0002583)2.56203139
34Acute myeloid leukemia (HP:0004808)2.55723067
35Sparse lateral eyebrow (HP:0005338)2.53675072
36Abnormality of cochlea (HP:0000375)2.45435433
37Abnormal gallbladder morphology (HP:0012437)2.39226720
38Nonimmune hydrops fetalis (HP:0001790)2.36684958
39Male infertility (HP:0003251)2.35653669
40Sandal gap (HP:0001852)2.35310756
41Ventricular fibrillation (HP:0001663)2.33545528
42Overlapping toe (HP:0001845)2.29913927
43Facial hemangioma (HP:0000329)2.27550758
44Abnormality of the preputium (HP:0100587)2.24861287
45Flat cornea (HP:0007720)2.17040145
46Macroorchidism (HP:0000053)2.16396683
47Increased nuchal translucency (HP:0010880)2.15342588
48Self-mutilation (HP:0000742)2.14830197
49Abnormal hemoglobin (HP:0011902)2.14302335
50Deep philtrum (HP:0002002)2.11878917
51Abnormality of the heme biosynthetic pathway (HP:0010472)2.11031667
52Cutaneous melanoma (HP:0012056)2.07928116
53Pallor (HP:0000980)2.07397330
54Centrally nucleated skeletal muscle fibers (HP:0003687)2.07215475
55Myelodysplasia (HP:0002863)2.06674851
56Abnormality of glycolysis (HP:0004366)2.05877591
57Capillary hemangiomas (HP:0005306)2.02475384
58Aplasia/Hypoplasia of the uvula (HP:0010293)2.00532778
59Gonadal dysgenesis (HP:0000133)1.99885151
60Easy fatigability (HP:0003388)1.99054678
61Orthostatic hypotension (HP:0001278)1.97914837
62Cafe-au-lait spot (HP:0000957)1.96818556
63Abnormally folded helix (HP:0008544)1.95843095
64Aplasia/Hypoplasia of the earlobes (HP:0009906)1.94926306
65Ureteral duplication (HP:0000073)1.94862120
66Duplicated collecting system (HP:0000081)1.94741368
67Abnormality of the gallbladder (HP:0005264)1.93413026
68Abnormality of sulfur amino acid metabolism (HP:0004339)1.93351077
69Abnormality of the carotid arteries (HP:0005344)1.92249415
70Hyperacusis (HP:0010780)1.91420773
71Reticulocytopenia (HP:0001896)1.89897149
72Cerebellar dysplasia (HP:0007033)1.89432685
73Hyperbilirubinemia (HP:0002904)1.88645377
74Disproportionate tall stature (HP:0001519)1.85901030
75Abnormality of chromosome stability (HP:0003220)1.85537538
76Poikilocytosis (HP:0004447)1.85037492
77Upper limb muscle weakness (HP:0003484)1.83093664
78Duodenal stenosis (HP:0100867)1.82211516
79Small intestinal stenosis (HP:0012848)1.82211516
80Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.81806256
81Progressive muscle weakness (HP:0003323)1.80635547
82Arteriovenous malformation (HP:0100026)1.77938650
83Abnormality of the ileum (HP:0001549)1.77391516
84Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.76771129
85Pheochromocytoma (HP:0002666)1.76637394
86Abnormality of DNA repair (HP:0003254)1.76054116
87Meckel diverticulum (HP:0002245)1.75583209
88Sex reversal (HP:0012245)1.75513979
89Abnormal sex determination (HP:0012244)1.75513979
90Cortical dysplasia (HP:0002539)1.73956411
91Hypoplasia of the uterus (HP:0000013)1.72860561
92Insomnia (HP:0100785)1.72730998
93Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.71451380
94Attention deficit hyperactivity disorder (HP:0007018)1.70639216
95Obsessive-compulsive behavior (HP:0000722)1.70092940
96Premature ovarian failure (HP:0008209)1.68815565
97Slender long bone (HP:0003100)1.68499932
98Abnormality of the columella (HP:0009929)1.67162416
99Deformed sella turcica (HP:0002681)1.67080426
100Breech presentation (HP:0001623)1.67077462

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SCYL24.15375403
2TRIB33.78874257
3EEF2K3.57296881
4EIF2AK12.94305548
5NME22.85466636
6KSR22.69076262
7PINK12.63511326
8MARK32.45866238
9TTK2.45304737
10RIPK42.44459102
11RPS6KB22.34050498
12CLK12.22377565
13IRAK32.17570074
14MUSK2.15954944
15ICK2.11209929
16PLK42.09675643
17PKN21.98796994
18SIK11.80430216
19CDK121.70877634
20MAP3K21.66764275
21PBK1.58706124
22NEK21.51770788
23NME11.44204905
24RAF11.41556392
25MAP3K81.35411487
26SRPK11.34251624
27WEE11.33868588
28NEK61.33174457
29TSSK61.28506704
30BMPR21.26359974
31RET1.22461869
32MAP3K101.18495122
33MTOR1.18116952
34NEK11.17808659
35CCNB11.17386841
36CDK71.16367430
37SMG11.14165725
38MST1R1.12302095
39CDC71.11017113
40NTRK31.09147213
41BUB11.08343308
42BRSK21.07374656
43KSR11.00141912
44PRPF4B1.00027609
45MAP3K10.98442799
46MAPKAPK30.97835920
47BMX0.97769490
48EIF2AK30.95272787
49ERN10.93116842
50LATS20.92948111
51RPS6KA50.89913883
52ZAK0.87801854
53PRKG20.85860103
54CHEK20.84720678
55MAP2K10.82600996
56FGFR40.80773998
57MAP2K20.77907163
58RPS6KB10.76546799
59YES10.76169585
60PDPK10.74592621
61LRRK20.73167799
62CHEK10.70825690
63ATR0.68380644
64PTK60.66978492
65CDK10.64308690
66ILK0.64158168
67AKT20.62257988
68BRSK10.59966507
69BRAF0.59653001
70PASK0.59376146
71GRK60.58930856
72ALK0.57628188
73CDK20.57352788
74PAK10.56693390
75AURKB0.55864847
76TLK10.50153107
77RPS6KA40.48825309
78ATM0.47238128
79PAK40.47191365
80PLK10.45556477
81MAPKAPK50.45022547
82CDK40.43824992
83DYRK30.43741067
84SIK30.43687284
85PDK20.41865098
86CDK30.40556644
87WNK40.40491405
88BRD40.40482621
89JAK20.40450484
90MAP3K130.36679220
91RPS6KA10.35671228
92STK40.34852799
93PDK10.32870916
94PRKCI0.32601219
95GSK3B0.30369617
96MAPK140.29960865
97TRPM70.29055009
98CDK140.28876331
99MET0.28708949
100RPS6KA20.28643396

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.82990698
2Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.24784108
3DNA replication_Homo sapiens_hsa030302.94641104
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.39584757
5RNA transport_Homo sapiens_hsa030132.37509691
6Acute myeloid leukemia_Homo sapiens_hsa052212.19197939
7Thyroid cancer_Homo sapiens_hsa052162.13285225
8Arginine biosynthesis_Homo sapiens_hsa002202.07797283
9One carbon pool by folate_Homo sapiens_hsa006701.94404112
10Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.92684714
11Biosynthesis of amino acids_Homo sapiens_hsa012301.87658884
12mRNA surveillance pathway_Homo sapiens_hsa030151.87478314
13Spliceosome_Homo sapiens_hsa030401.85567698
14Fructose and mannose metabolism_Homo sapiens_hsa000511.84767425
15Mismatch repair_Homo sapiens_hsa034301.80974529
16Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.80484314
17Cell cycle_Homo sapiens_hsa041101.78627501
18Pentose phosphate pathway_Homo sapiens_hsa000301.76662283
19Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.68693862
20Chronic myeloid leukemia_Homo sapiens_hsa052201.68618504
21mTOR signaling pathway_Homo sapiens_hsa041501.56366555
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.56254515
23Homologous recombination_Homo sapiens_hsa034401.55382766
24Pyruvate metabolism_Homo sapiens_hsa006201.55134416
25Carbon metabolism_Homo sapiens_hsa012001.55086377
26Central carbon metabolism in cancer_Homo sapiens_hsa052301.50531276
27Non-small cell lung cancer_Homo sapiens_hsa052231.50000515
28Gap junction_Homo sapiens_hsa045401.45705033
29Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.45158921
30VEGF signaling pathway_Homo sapiens_hsa043701.44494925
31Nucleotide excision repair_Homo sapiens_hsa034201.40935623
32Endometrial cancer_Homo sapiens_hsa052131.32951668
33Fanconi anemia pathway_Homo sapiens_hsa034601.30918446
34Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.28463801
35Other glycan degradation_Homo sapiens_hsa005111.23839043
36ErbB signaling pathway_Homo sapiens_hsa040121.19276526
37Apoptosis_Homo sapiens_hsa042101.17047142
38Insulin signaling pathway_Homo sapiens_hsa049101.17023895
39Basal transcription factors_Homo sapiens_hsa030221.14396460
40Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.13447465
41Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.08013966
42Base excision repair_Homo sapiens_hsa034101.07478104
43N-Glycan biosynthesis_Homo sapiens_hsa005101.06496257
44Cysteine and methionine metabolism_Homo sapiens_hsa002700.97155290
45Renal cell carcinoma_Homo sapiens_hsa052110.91457941
46Bladder cancer_Homo sapiens_hsa052190.91457224
47Nitrogen metabolism_Homo sapiens_hsa009100.90381794
48HIF-1 signaling pathway_Homo sapiens_hsa040660.90145487
49Pancreatic cancer_Homo sapiens_hsa052120.89231556
50Sulfur relay system_Homo sapiens_hsa041220.89075066
51B cell receptor signaling pathway_Homo sapiens_hsa046620.87694090
52Ribosome_Homo sapiens_hsa030100.87423391
53Oocyte meiosis_Homo sapiens_hsa041140.86481289
54Thyroid hormone signaling pathway_Homo sapiens_hsa049190.85388119
55Viral carcinogenesis_Homo sapiens_hsa052030.84850283
56Glioma_Homo sapiens_hsa052140.83518384
57Prolactin signaling pathway_Homo sapiens_hsa049170.82975352
58Type II diabetes mellitus_Homo sapiens_hsa049300.81743623
59Olfactory transduction_Homo sapiens_hsa047400.81528701
60Pyrimidine metabolism_Homo sapiens_hsa002400.79919617
61Estrogen signaling pathway_Homo sapiens_hsa049150.79799968
62Prostate cancer_Homo sapiens_hsa052150.79597898
63Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.79460665
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.79107044
65AMPK signaling pathway_Homo sapiens_hsa041520.78612503
66Longevity regulating pathway - mammal_Homo sapiens_hsa042110.77918460
67Choline metabolism in cancer_Homo sapiens_hsa052310.76254419
68Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.75275475
69Selenocompound metabolism_Homo sapiens_hsa004500.73219607
70Purine metabolism_Homo sapiens_hsa002300.68794300
71Cyanoamino acid metabolism_Homo sapiens_hsa004600.67957763
72Inositol phosphate metabolism_Homo sapiens_hsa005620.65819884
73Lysine degradation_Homo sapiens_hsa003100.65573062
74Hepatitis B_Homo sapiens_hsa051610.59874823
75Insulin resistance_Homo sapiens_hsa049310.59831225
76Glutathione metabolism_Homo sapiens_hsa004800.59611829
77Galactose metabolism_Homo sapiens_hsa000520.59585484
78Non-homologous end-joining_Homo sapiens_hsa034500.59531722
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.59153306
802-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.57658397
81Phosphatidylinositol signaling system_Homo sapiens_hsa040700.56686828
82Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.56686159
83AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.52447604
84MicroRNAs in cancer_Homo sapiens_hsa052060.51618712
85Propanoate metabolism_Homo sapiens_hsa006400.51285712
86Alcoholism_Homo sapiens_hsa050340.49248363
87Fatty acid metabolism_Homo sapiens_hsa012120.48969123
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48743937
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.48146913
90Melanoma_Homo sapiens_hsa052180.47532942
91Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43649496
92RNA degradation_Homo sapiens_hsa030180.42059243
93Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.37927226
94Glycerophospholipid metabolism_Homo sapiens_hsa005640.36580819
95Sphingolipid signaling pathway_Homo sapiens_hsa040710.35224352
96Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.35174194
97Epstein-Barr virus infection_Homo sapiens_hsa051690.33974665
98Steroid biosynthesis_Homo sapiens_hsa001000.31444733
99Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.30705202
100Small cell lung cancer_Homo sapiens_hsa052220.29606043

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