NBPF6

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. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)7.41745417
2nuclear pore organization (GO:0006999)6.26861378
3homocysteine metabolic process (GO:0050667)5.71940749
4pore complex assembly (GO:0046931)5.46544893
5synapsis (GO:0007129)5.31541023
6regulation of translational fidelity (GO:0006450)5.09987868
7regulation of histone H3-K27 methylation (GO:0061085)5.09605982
8diterpenoid biosynthetic process (GO:0016102)5.04916645
9Golgi transport vesicle coating (GO:0048200)4.92336335
10COPI coating of Golgi vesicle (GO:0048205)4.92336335
11nucleosome disassembly (GO:0006337)4.91370751
12protein-DNA complex disassembly (GO:0032986)4.91370751
13male meiosis (GO:0007140)4.54946737
14DNA replication initiation (GO:0006270)4.46519363
15mitotic chromosome condensation (GO:0007076)4.26999321
16DNA replication checkpoint (GO:0000076)4.26534989
17mitotic nuclear envelope disassembly (GO:0007077)4.23236398
18potassium ion export (GO:0071435)4.20692204
19regulation of histone H3-K4 methylation (GO:0051569)4.15308179
20terpenoid biosynthetic process (GO:0016114)4.11439369
21binding of sperm to zona pellucida (GO:0007339)4.11079108
22DNA synthesis involved in DNA repair (GO:0000731)4.10846435
23mitotic sister chromatid segregation (GO:0000070)4.10813054
24DNA unwinding involved in DNA replication (GO:0006268)4.08843150
25DNA topological change (GO:0006265)4.00544757
26regulation of RNA export from nucleus (GO:0046831)3.98669422
27sister chromatid segregation (GO:0000819)3.95711324
28TOR signaling (GO:0031929)3.92814616
29nuclear envelope disassembly (GO:0051081)3.88064186
30membrane disassembly (GO:0030397)3.88064186
31protein export from nucleus (GO:0006611)3.72800751
32chromosome organization involved in meiosis (GO:0070192)3.64843784
33regulation of nucleobase-containing compound transport (GO:0032239)3.63864956
34midgut development (GO:0007494)3.63669833
35response to vitamin A (GO:0033189)3.57332107
36microtubule depolymerization (GO:0007019)3.51645101
37DNA strand elongation involved in DNA replication (GO:0006271)3.50975634
38chromosome condensation (GO:0030261)3.49072330
39proline biosynthetic process (GO:0006561)3.48939306
40formation of translation preinitiation complex (GO:0001731)3.47630331
41regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.43385485
42DNA strand elongation (GO:0022616)3.42104524
43definitive hemopoiesis (GO:0060216)3.40566934
44poly(A)+ mRNA export from nucleus (GO:0016973)3.39106648
45regulation of centriole replication (GO:0046599)3.27360876
46telomere maintenance via semi-conservative replication (GO:0032201)3.26415675
47DNA packaging (GO:0006323)3.26109435
48resolution of meiotic recombination intermediates (GO:0000712)3.19983181
49regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.17969911
50tRNA aminoacylation for protein translation (GO:0006418)3.16202390
51regulation of phosphoprotein phosphatase activity (GO:0043666)3.13655709
52regulation of mitotic spindle organization (GO:0060236)3.12095463
53DNA conformation change (GO:0071103)3.11034538
54sperm-egg recognition (GO:0035036)3.07809891
55regulation of translational elongation (GO:0006448)3.07782620
56folic acid metabolic process (GO:0046655)3.06733167
57membrane repolarization during action potential (GO:0086011)3.06430072
58folic acid-containing compound biosynthetic process (GO:0009396)3.05389938
59erythrocyte maturation (GO:0043249)3.02473569
60meiotic chromosome segregation (GO:0045132)3.02398365
61ribosome biogenesis (GO:0042254)3.00381126
62DNA duplex unwinding (GO:0032508)2.99259419
63amino acid activation (GO:0043038)2.98731325
64tRNA aminoacylation (GO:0043039)2.98731325
65regulation of histone methylation (GO:0031060)2.97542381
66regulation of centrosome cycle (GO:0046605)2.93968635
67histone H3-K9 demethylation (GO:0033169)2.91616730
68ribosome assembly (GO:0042255)2.89335775
69mRNA cleavage (GO:0006379)2.88348273
70DNA geometric change (GO:0032392)2.87840109
71chromosome segregation (GO:0007059)2.87674653
72telomere maintenance via recombination (GO:0000722)2.87471535
73nuclear envelope organization (GO:0006998)2.87149818
74DNA methylation involved in gamete generation (GO:0043046)2.86840093
75protein complex localization (GO:0031503)2.86128573
76intra-S DNA damage checkpoint (GO:0031573)2.84741979
77nucleobase-containing small molecule interconversion (GO:0015949)2.82756417
78gas transport (GO:0015669)2.80978435
79vesicle coating (GO:0006901)2.79732051
80mitotic recombination (GO:0006312)2.79543463
81retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.78641115
82protoporphyrinogen IX metabolic process (GO:0046501)2.77870665
83spliceosomal tri-snRNP complex assembly (GO:0000244)2.73091478
84cellular zinc ion homeostasis (GO:0006882)2.72161423
85positive regulation of DNA-dependent DNA replication (GO:2000105)2.71770696
86negative regulation of histone methylation (GO:0031061)2.70714895
87motile cilium assembly (GO:0044458)2.70295277
88glucose 6-phosphate metabolic process (GO:0051156)2.67904807
89glutamine family amino acid catabolic process (GO:0009065)2.67688795
90regulation of oxidative phosphorylation (GO:0002082)2.67400708
91glutamine family amino acid biosynthetic process (GO:0009084)2.66314947
92spermatid development (GO:0007286)2.65338492
93receptor catabolic process (GO:0032801)2.65312748
94face development (GO:0060324)2.65020874
95COPII vesicle coating (GO:0048208)2.63915746
96IMP biosynthetic process (GO:0006188)2.63421672
97mitotic metaphase plate congression (GO:0007080)2.63179634
98response to epidermal growth factor (GO:0070849)2.62858119
99negative regulation of erythrocyte differentiation (GO:0045647)2.59669656
100oxygen transport (GO:0015671)2.59449250

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.44166231
2ZNF263_19887448_ChIP-Seq_K562_Human3.91333680
3FOXM1_23109430_ChIP-Seq_U2OS_Human3.81244537
4HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.23431475
5MYC_18555785_ChIP-Seq_MESCs_Mouse2.95518539
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.95343956
7FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.58072739
8E2F4_17652178_ChIP-ChIP_JURKAT_Human2.52479477
9NCOR1_26117541_ChIP-Seq_K562_Human2.45096960
10MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.32523631
11ESR1_20079471_ChIP-ChIP_T-47D_Human2.27807941
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.25181733
13XRN2_22483619_ChIP-Seq_HELA_Human2.24934301
14KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.21580833
15EGR1_19374776_ChIP-ChIP_THP-1_Human2.21015666
16MYC_18358816_ChIP-ChIP_MESCs_Mouse2.17890954
17MYC_19079543_ChIP-ChIP_MESCs_Mouse2.14945740
18BP1_19119308_ChIP-ChIP_Hs578T_Human2.09108188
19AR_21909140_ChIP-Seq_LNCAP_Human2.08332267
20DCP1A_22483619_ChIP-Seq_HELA_Human2.04435777
21MYC_19030024_ChIP-ChIP_MESCs_Mouse2.00515820
22KDM5A_27292631_Chip-Seq_BREAST_Human1.97398201
23ETS1_20019798_ChIP-Seq_JURKAT_Human1.96359922
24PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.90188426
25GATA1_22025678_ChIP-Seq_K562_Human1.81728575
26KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.80855036
27GATA1_19941826_ChIP-Seq_K562_Human1.77743545
28E2F1_21310950_ChIP-Seq_MCF-7_Human1.75396477
29CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.68595387
30TTF2_22483619_ChIP-Seq_HELA_Human1.64702009
31GABP_19822575_ChIP-Seq_HepG2_Human1.61299371
32POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.61043164
33DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.60520786
34MYC_22102868_ChIP-Seq_BL_Human1.57957864
35NELFA_20434984_ChIP-Seq_ESCs_Mouse1.55526773
36MYCN_18555785_ChIP-Seq_MESCs_Mouse1.54392781
37CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.53684913
38ZFX_18555785_ChIP-Seq_MESCs_Mouse1.53059231
39YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.51215200
40TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.50489945
41THAP11_20581084_ChIP-Seq_MESCs_Mouse1.49669669
42CREB1_15753290_ChIP-ChIP_HEK293T_Human1.48488895
43CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.47824846
44PKCTHETA_26484144_Chip-Seq_BREAST_Human1.44637258
45KLF4_18555785_ChIP-Seq_MESCs_Mouse1.37505956
46EST1_17652178_ChIP-ChIP_JURKAT_Human1.36257646
47GABP_17652178_ChIP-ChIP_JURKAT_Human1.35540871
48RACK7_27058665_Chip-Seq_MCF-7_Human1.33317101
49CHD1_26751641_Chip-Seq_LNCaP_Human1.29813804
50GATA2_19941826_ChIP-Seq_K562_Human1.28565032
51MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.27920823
52CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.25711756
53ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.23048855
54E2F1_18555785_ChIP-Seq_MESCs_Mouse1.21558435
55CIITA_25753668_ChIP-Seq_RAJI_Human1.20656244
56LXR_22292898_ChIP-Seq_THP-1_Human1.19564561
57FOXP3_21729870_ChIP-Seq_TREG_Human1.19497351
58TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19069420
59SPI1_23127762_ChIP-Seq_K562_Human1.19032813
60E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.18618059
61KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.18394260
62CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.18145100
63SMC4_20622854_ChIP-Seq_HELA_Human1.17714752
64* RUNX1_27514584_Chip-Seq_MCF-7_Human1.17033866
65ESR1_15608294_ChIP-ChIP_MCF-7_Human1.14534995
66TFEB_21752829_ChIP-Seq_HELA_Human1.13441731
67ELK3_25401928_ChIP-Seq_HUVEC_Human1.13135040
68STAT3_1855785_ChIP-Seq_MESCs_Mouse1.12757286
69ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.12536535
70BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.11559140
71ELK1_19687146_ChIP-ChIP_HELA_Human1.10872123
72HOXB4_20404135_ChIP-ChIP_EML_Mouse1.09118323
73PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08614992
74SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.06701722
75TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.06612298
76P68_20966046_ChIP-Seq_HELA_Human1.05750803
77KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.05679113
78SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.03884351
79MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.99609685
80ELF5_23300383_ChIP-Seq_T47D_Human0.99565651
81PADI4_21655091_ChIP-ChIP_MCF-7_Human0.99353865
82PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.99230275
83TBX5_21415370_ChIP-Seq_HL-1_Mouse0.98434274
84GATA1_22383799_ChIP-Seq_G1ME_Mouse0.96671167
85VDR_21846776_ChIP-Seq_THP-1_Human0.96252560
86MAF_26560356_Chip-Seq_TH2_Human0.93838757
87SCL_19346495_ChIP-Seq_HPC-7_Human0.93773214
88HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.91265313
89E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.90921038
90ATF3_27146783_Chip-Seq_COLON_Human0.90202346
91SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.89301064
92GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.87138947
93KDM2B_26808549_Chip-Seq_DND41_Human0.86287548
94CREB1_26743006_Chip-Seq_LNCaP_Human0.86172716
95KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.86003426
96SRF_21415370_ChIP-Seq_HL-1_Mouse0.85782116
97NANOG_18555785_ChIP-Seq_MESCs_Mouse0.84546843
98P300_27058665_Chip-Seq_ZR-75-30cells_Human0.84191457
99FOXP1_21924763_ChIP-Seq_HESCs_Human0.83613411
100FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.83556484

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization3.93740839
2MP0003693_abnormal_embryo_hatching3.73410342
3MP0004957_abnormal_blastocyst_morpholog3.32566526
4MP0008995_early_reproductive_senescence3.25365236
5MP0010094_abnormal_chromosome_stability3.02770251
6MP0000678_abnormal_parathyroid_gland2.91637972
7MP0003111_abnormal_nucleus_morphology2.87051084
8MP0009697_abnormal_copulation2.80242250
9MP0004147_increased_porphyrin_level2.78597578
10MP0008058_abnormal_DNA_repair2.74850759
11MP0005451_abnormal_body_composition2.59255612
12MP0008932_abnormal_embryonic_tissue2.34577920
13MP0010234_abnormal_vibrissa_follicle2.34494839
14MP0003315_abnormal_perineum_morphology2.26303727
15MP0003077_abnormal_cell_cycle2.26033646
16MP0004233_abnormal_muscle_weight2.25503472
17MP0008057_abnormal_DNA_replication2.19353158
18MP0005083_abnormal_biliary_tract2.18298120
19MP0003786_premature_aging1.93077530
20MP0001929_abnormal_gametogenesis1.92862520
21MP0004264_abnormal_extraembryonic_tissu1.87159592
22MP0005058_abnormal_lysosome_morphology1.80005785
23MP0003718_maternal_effect1.79489162
24MP0002132_abnormal_respiratory_system1.76326768
25MP0008007_abnormal_cellular_replicative1.71241519
26MP0002009_preneoplasia1.71215457
27MP0003698_abnormal_male_reproductive1.70308564
28MP0003656_abnormal_erythrocyte_physiolo1.69544994
29MP0002160_abnormal_reproductive_system1.65820059
30MP0002877_abnormal_melanocyte_morpholog1.64604341
31MP0001661_extended_life_span1.58566298
32MP0002210_abnormal_sex_determination1.56055544
33MP0005076_abnormal_cell_differentiation1.52290168
34MP0001730_embryonic_growth_arrest1.52082025
35MP0001697_abnormal_embryo_size1.50125311
36MP0002080_prenatal_lethality1.49377814
37MP0010307_abnormal_tumor_latency1.41139452
38MP0000350_abnormal_cell_proliferation1.40522764
39MP0005380_embryogenesis_phenotype1.39501956
40MP0001672_abnormal_embryogenesis/_devel1.39501956
41MP0002086_abnormal_extraembryonic_tissu1.39005100
42MP0006036_abnormal_mitochondrial_physio1.38154307
43MP0008004_abnormal_stomach_pH1.38010836
44MP0003984_embryonic_growth_retardation1.33792457
45MP0003705_abnormal_hypodermis_morpholog1.31157161
46MP0002088_abnormal_embryonic_growth/wei1.30680098
47MP0005360_urolithiasis1.29680663
48MP0002249_abnormal_larynx_morphology1.27955988
49MP0006035_abnormal_mitochondrial_morpho1.26216424
50MP0005647_abnormal_sex_gland1.22339089
51MP0002396_abnormal_hematopoietic_system1.19032213
52MP0000313_abnormal_cell_death1.16110133
53MP0005409_darkened_coat_color1.15974388
54MP0001145_abnormal_male_reproductive1.15847659
55MP0002161_abnormal_fertility/fecundity1.12434100
56MP0000681_abnormal_thyroid_gland1.11333307
57MP0001727_abnormal_embryo_implantation1.04108964
58MP0000653_abnormal_sex_gland1.04092084
59MP0002085_abnormal_embryonic_tissue1.03015799
60MP0003385_abnormal_body_wall1.02464217
61MP0004808_abnormal_hematopoietic_stem1.01977782
62MP0005501_abnormal_skin_physiology1.00028310
63MP0003942_abnormal_urinary_system0.99902836
64MP0002084_abnormal_developmental_patter0.99343688
65MP0004381_abnormal_hair_follicle0.98594101
66MP0005646_abnormal_pituitary_gland0.93797054
67MP0001545_abnormal_hematopoietic_system0.93349443
68MP0005397_hematopoietic_system_phenotyp0.93349443
69MP0004782_abnormal_surfactant_physiolog0.92739997
70MP0002796_impaired_skin_barrier0.92177271
71MP0001881_abnormal_mammary_gland0.90654190
72MP0000358_abnormal_cell_content/0.90625705
73MP0004084_abnormal_cardiac_muscle0.89280623
74MP0000537_abnormal_urethra_morphology0.88727996
75MP0009931_abnormal_skin_appearance0.88134195
76MP0002822_catalepsy0.88099234
77MP0001873_stomach_inflammation0.87992323
78MP0001664_abnormal_digestion0.84873199
79MP0008775_abnormal_heart_ventricle0.84495844
80MP0010678_abnormal_skin_adnexa0.83819261
81MP0003938_abnormal_ear_development0.83692506
82MP0009672_abnormal_birth_weight0.82479163
83MP0000383_abnormal_hair_follicle0.81864395
84MP0000747_muscle_weakness0.81090013
85MP0002269_muscular_atrophy0.79841475
86MP0003045_fibrosis0.78834247
87MP0006138_congestive_heart_failure0.78706474
88MP0010630_abnormal_cardiac_muscle0.77897316
89MP0003699_abnormal_female_reproductive0.75826456
90MP0004145_abnormal_muscle_electrophysio0.74848820
91MP0000462_abnormal_digestive_system0.73957017
92MP0009115_abnormal_fat_cell0.72396762
93MP0003936_abnormal_reproductive_system0.72069991
94MP0003959_abnormal_lean_body0.71626558
95MP0000003_abnormal_adipose_tissue0.71343609
96MP0000490_abnormal_crypts_of0.69072394
97MP0002019_abnormal_tumor_incidence0.68492138
98MP0002970_abnormal_white_adipose0.68218092
99MP0004197_abnormal_fetal_growth/weight/0.67725369
100MP0000428_abnormal_craniofacial_morphol0.67626905

Predicted human phenotypes

RankGene SetZ-score
1Abnormal gallbladder physiology (HP:0012438)5.64230275
2Cholecystitis (HP:0001082)5.64230275
3Reticulocytosis (HP:0001923)4.93943429
4Truncus arteriosus (HP:0001660)4.93215035
5Ankyloglossia (HP:0010296)4.63144521
6Hyperthyroidism (HP:0000836)4.59327478
7Chromsome breakage (HP:0040012)4.23276241
8Chromosomal breakage induced by crosslinking agents (HP:0003221)4.14115343
9Abnormality of reticulocytes (HP:0004312)3.99051327
10Bowel incontinence (HP:0002607)3.45374261
11Abnormality of oral frenula (HP:0000190)3.44822428
12Hypoparathyroidism (HP:0000829)3.33008468
13Abnormal large intestine physiology (HP:0012700)3.28338189
14Polycythemia (HP:0001901)3.24015232
15Birth length less than 3rd percentile (HP:0003561)3.19598711
16Seborrheic dermatitis (HP:0001051)3.08840999
17Ileus (HP:0002595)2.93705814
18Abnormality of homocysteine metabolism (HP:0010919)2.88865195
19Homocystinuria (HP:0002156)2.88865195
20Hypoplasia of the uterus (HP:0000013)2.88665700
21Cerebellar dysplasia (HP:0007033)2.85305148
22Abnormality of the tricuspid valve (HP:0001702)2.84160252
23Atelectasis (HP:0100750)2.72477456
24Septate vagina (HP:0001153)2.71785779
25Duplicated collecting system (HP:0000081)2.67494411
26Cholelithiasis (HP:0001081)2.64707128
27Abnormality of cochlea (HP:0000375)2.64138659
28Ventricular fibrillation (HP:0001663)2.61406598
29Nonimmune hydrops fetalis (HP:0001790)2.57223458
30Insidious onset (HP:0003587)2.54187443
31Termporal pattern (HP:0011008)2.54187443
32Abnormality of the heme biosynthetic pathway (HP:0010472)2.53050211
33Hypertensive crisis (HP:0100735)2.52920235
34Sparse lateral eyebrow (HP:0005338)2.50150783
35Patellar dislocation (HP:0002999)2.47768469
36Orthostatic hypotension (HP:0001278)2.43583087
37Abnormality of the preputium (HP:0100587)2.43345839
38Sandal gap (HP:0001852)2.43070253
39Acute myeloid leukemia (HP:0004808)2.43021121
40Self-mutilation (HP:0000742)2.40745490
41Resting tremor (HP:0002322)2.34982922
42Abnormal hemoglobin (HP:0011902)2.34901162
43Colitis (HP:0002583)2.34387084
44Ureteral duplication (HP:0000073)2.32245535
45Overlapping toe (HP:0001845)2.31695735
46Abnormality of DNA repair (HP:0003254)2.28993946
47Upper limb muscle weakness (HP:0003484)2.28750831
48Abnormally folded helix (HP:0008544)2.28517806
49Dysmetric saccades (HP:0000641)2.28081778
50Flat cornea (HP:0007720)2.26712450
51Male infertility (HP:0003251)2.24793787
52Abnormality of glycolysis (HP:0004366)2.23196660
53Aplasia/Hypoplasia of the uvula (HP:0010293)2.22658526
54Poikilocytosis (HP:0004447)2.21082996
55Abnormal gallbladder morphology (HP:0012437)2.19025260
56Abnormality of sulfur amino acid metabolism (HP:0004339)2.15619489
57Abnormality of chromosome stability (HP:0003220)2.12794313
58Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.12792349
59Cortical dysplasia (HP:0002539)2.11391325
60J-shaped sella turcica (HP:0002680)2.10562182
61Abnormality of the renal collecting system (HP:0004742)2.10295912
62Facial hemangioma (HP:0000329)2.09811968
63Abnormality of the carotid arteries (HP:0005344)2.09569665
64Squamous cell carcinoma (HP:0002860)2.09120298
65Aplasia/Hypoplasia of the earlobes (HP:0009906)2.08255957
66Relative macrocephaly (HP:0004482)2.07731210
67Increased nuchal translucency (HP:0010880)2.04840096
68Myelodysplasia (HP:0002863)2.04060389
69Acanthocytosis (HP:0001927)2.03648876
70Reticulocytopenia (HP:0001896)1.98723556
71Duodenal stenosis (HP:0100867)1.98335802
72Small intestinal stenosis (HP:0012848)1.98335802
73Abnormality of the columella (HP:0009929)1.98087386
74Deep philtrum (HP:0002002)1.97917845
75Asymmetry of the thorax (HP:0001555)1.97774998
76Progressive muscle weakness (HP:0003323)1.97517882
77Sex reversal (HP:0012245)1.97390798
78Abnormal sex determination (HP:0012244)1.97390798
79Gonadal dysgenesis (HP:0000133)1.96777965
80Increased connective tissue (HP:0009025)1.96298738
81Cutaneous melanoma (HP:0012056)1.95492769
82Pallor (HP:0000980)1.94987898
83Centrally nucleated skeletal muscle fibers (HP:0003687)1.94908318
84Pheochromocytoma (HP:0002666)1.94811822
85Insomnia (HP:0100785)1.94174621
86Abnormality of the ileum (HP:0001549)1.93842311
87Overfolded helix (HP:0000396)1.93001582
88Premature ovarian failure (HP:0008209)1.92626112
89Meckel diverticulum (HP:0002245)1.91233042
90Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.89738968
91Germ cell neoplasia (HP:0100728)1.88431830
92Cafe-au-lait spot (HP:0000957)1.88421973
93Hyperacusis (HP:0010780)1.85618380
94Increased serum pyruvate (HP:0003542)1.85408034
95Pili torti (HP:0003777)1.85143502
96Hyperbilirubinemia (HP:0002904)1.81539112
97Capillary hemangiomas (HP:0005306)1.80824611
98Morphological abnormality of the inner ear (HP:0011390)1.78577132
99Attention deficit hyperactivity disorder (HP:0007018)1.77704766
100Hypergonadotropic hypogonadism (HP:0000815)1.76901113

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK13.56127296
2SCYL23.40789180
3MARK33.04243380
4EIF2AK13.02515933
5EEF2K2.98514436
6TTK2.74124362
7NME22.72917514
8KSR22.66563763
9CLK12.64486848
10MST1R2.63023573
11TRIB32.27156444
12PLK42.26114085
13RIPK42.16383453
14NEK22.12848790
15ICK2.06997919
16ZAK1.99783089
17BRSK21.93413674
18CDK121.83911348
19NME11.81132836
20MAP3K21.80252548
21RPS6KB21.79413210
22PBK1.73244342
23IRAK31.70600859
24WEE11.69261726
25NEK11.68463038
26RAF11.60687114
27SRPK11.58931534
28BMPR21.55221687
29TSSK61.49355806
30BMX1.49025601
31CDC71.41461648
32RPS6KA51.35524178
33TLK11.34812256
34MAP3K81.29041600
35NTRK31.23986462
36WNK41.22888161
37CCNB11.21252499
38RET1.12825675
39KSR11.08777783
40MET1.03365673
41MTOR1.01604211
42PKN21.00393199
43CHEK20.99178536
44NEK60.98282578
45PDK20.98175731
46MAP2K10.94819671
47EIF2AK30.93985262
48BUB10.93883758
49MUSK0.90737129
50LATS20.90566162
51MAP3K10.89181151
52CDK70.89119171
53BRSK10.86831014
54SIK10.86315213
55YES10.85519174
56ATR0.83663408
57PAK10.75499401
58CHEK10.74398298
59AURKB0.72826841
60MAPKAPK30.70735758
61ILK0.70392580
62PRKG20.69085943
63CDK10.65899714
64AKT20.65420452
65LATS10.65373577
66PLK10.63664467
67ATM0.58907108
68RPS6KB10.58683452
69PTK60.58678717
70MAPKAPK50.58067516
71CDK20.57873530
72ALK0.55746860
73RPS6KA40.54496741
74BRAF0.51731271
75FGFR40.51293506
76MYLK0.51161496
77DYRK30.49688711
78MKNK10.49181920
79STK40.48679396
80MST40.45847249
81CDK30.45769087
82JAK20.42482860
83MAP3K100.42262845
84LRRK20.41651680
85STK30.40451799
86BRD40.40298305
87PLK30.38858568
88PRPF4B0.36735122
89STK100.35413351
90PDPK10.34387444
91PAK40.34121103
92CSNK1E0.33642683
93PASK0.32264936
94CSNK2A20.30679668
95AURKA0.30302776
96SMG10.29986495
97INSRR0.29982382
98WNK10.29723555
99CDK140.29678135
100TRPM70.28989443

Predicted pathways (KEGG)

RankGene SetZ-score
1Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.65380968
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.44069796
3DNA replication_Homo sapiens_hsa030303.10489587
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.00913734
5Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.61914673
6RNA transport_Homo sapiens_hsa030132.48064527
7One carbon pool by folate_Homo sapiens_hsa006702.37556267
8Arginine biosynthesis_Homo sapiens_hsa002202.21302205
9Mismatch repair_Homo sapiens_hsa034302.06489170
10Biosynthesis of amino acids_Homo sapiens_hsa012301.99033342
11Spliceosome_Homo sapiens_hsa030401.97077559
12Thyroid cancer_Homo sapiens_hsa052161.96716669
13Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.88205642
14Cell cycle_Homo sapiens_hsa041101.86824707
15Homologous recombination_Homo sapiens_hsa034401.77482248
16Fructose and mannose metabolism_Homo sapiens_hsa000511.75417956
17Pyruvate metabolism_Homo sapiens_hsa006201.75055921
18Gap junction_Homo sapiens_hsa045401.74758567
19mRNA surveillance pathway_Homo sapiens_hsa030151.70925210
20Carbon metabolism_Homo sapiens_hsa012001.62686148
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.62439342
22Acute myeloid leukemia_Homo sapiens_hsa052211.61989507
23Fanconi anemia pathway_Homo sapiens_hsa034601.59313200
24Pentose phosphate pathway_Homo sapiens_hsa000301.57139734
25Cysteine and methionine metabolism_Homo sapiens_hsa002701.55961197
26Nucleotide excision repair_Homo sapiens_hsa034201.55825605
27Nitrogen metabolism_Homo sapiens_hsa009101.55667254
28Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.47319618
29Selenocompound metabolism_Homo sapiens_hsa004501.43210141
30Basal transcription factors_Homo sapiens_hsa030221.38739782
31Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.37244593
32Apoptosis_Homo sapiens_hsa042101.36135858
33Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.34630896
34Chronic myeloid leukemia_Homo sapiens_hsa052201.23074961
35Central carbon metabolism in cancer_Homo sapiens_hsa052301.20102550
36Olfactory transduction_Homo sapiens_hsa047401.15950692
37Oocyte meiosis_Homo sapiens_hsa041141.08890494
38mTOR signaling pathway_Homo sapiens_hsa041501.08579409
39Other glycan degradation_Homo sapiens_hsa005111.07703742
40Pyrimidine metabolism_Homo sapiens_hsa002401.04351929
41VEGF signaling pathway_Homo sapiens_hsa043701.02397250
42Base excision repair_Homo sapiens_hsa034101.01609634
43N-Glycan biosynthesis_Homo sapiens_hsa005101.00405395
44Non-small cell lung cancer_Homo sapiens_hsa052231.00011979
45Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.96952266
46Purine metabolism_Homo sapiens_hsa002300.96449359
47Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.92724728
48Insulin signaling pathway_Homo sapiens_hsa049100.92460776
49Endometrial cancer_Homo sapiens_hsa052130.92032323
50Propanoate metabolism_Homo sapiens_hsa006400.89622719
51Glutathione metabolism_Homo sapiens_hsa004800.85577800
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.81058486
53Alcoholism_Homo sapiens_hsa050340.79523881
54Non-homologous end-joining_Homo sapiens_hsa034500.79202225
552-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.77609164
56ErbB signaling pathway_Homo sapiens_hsa040120.77001299
57Viral carcinogenesis_Homo sapiens_hsa052030.75885146
58Ribosome_Homo sapiens_hsa030100.75480881
59Lysine degradation_Homo sapiens_hsa003100.74252943
60Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.72259458
61RNA degradation_Homo sapiens_hsa030180.71099141
62Steroid biosynthesis_Homo sapiens_hsa001000.70901508
63RNA polymerase_Homo sapiens_hsa030200.70900056
64HIF-1 signaling pathway_Homo sapiens_hsa040660.70181607
65Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.69305284
66Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.69050302
67Pancreatic cancer_Homo sapiens_hsa052120.65329623
68Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.64491133
69Fatty acid metabolism_Homo sapiens_hsa012120.62964478
70Sulfur relay system_Homo sapiens_hsa041220.59949112
71Prostate cancer_Homo sapiens_hsa052150.59003523
72Bladder cancer_Homo sapiens_hsa052190.54989662
73Fatty acid biosynthesis_Homo sapiens_hsa000610.54502765
74Renal cell carcinoma_Homo sapiens_hsa052110.49708226
75Butanoate metabolism_Homo sapiens_hsa006500.49552073
76AMPK signaling pathway_Homo sapiens_hsa041520.49218565
77Glioma_Homo sapiens_hsa052140.49171553
78Galactose metabolism_Homo sapiens_hsa000520.48461564
79Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47134052
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46993915
81Prolactin signaling pathway_Homo sapiens_hsa049170.46500750
82Choline metabolism in cancer_Homo sapiens_hsa052310.46208536
83Type II diabetes mellitus_Homo sapiens_hsa049300.45799804
84Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.44311941
85Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44245086
86Systemic lupus erythematosus_Homo sapiens_hsa053220.43192794
87Small cell lung cancer_Homo sapiens_hsa052220.43013230
88MicroRNAs in cancer_Homo sapiens_hsa052060.40821948
89Insulin resistance_Homo sapiens_hsa049310.40524004
90AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.38701750
91B cell receptor signaling pathway_Homo sapiens_hsa046620.37187160
92Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37093457
93Melanoma_Homo sapiens_hsa052180.34950219
94Estrogen signaling pathway_Homo sapiens_hsa049150.34606871
95Hepatitis B_Homo sapiens_hsa051610.33430912
96Proteasome_Homo sapiens_hsa030500.32934530
97Adherens junction_Homo sapiens_hsa045200.30780190
98Cyanoamino acid metabolism_Homo sapiens_hsa004600.29663860
99Metabolic pathways_Homo sapiens_hsa011000.29382599
100Inositol phosphate metabolism_Homo sapiens_hsa005620.23311793

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