NBPF1

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
1cranial nerve morphogenesis (GO:0021602)3.14419256
2regulation of hippo signaling (GO:0035330)2.89779567
3cytoplasmic mRNA processing body assembly (GO:0033962)2.88075919
4positive regulation of catecholamine secretion (GO:0033605)2.73171972
5paraxial mesoderm development (GO:0048339)2.65667084
6coenzyme catabolic process (GO:0009109)2.62749084
7pyrimidine nucleobase catabolic process (GO:0006208)2.59369177
8presynaptic membrane assembly (GO:0097105)2.48802606
9ventricular system development (GO:0021591)2.41892453
10nuclear pore organization (GO:0006999)2.38254404
11sex differentiation (GO:0007548)2.38178566
12DNA double-strand break processing (GO:0000729)2.34838734
13mRNA cleavage (GO:0006379)2.33378729
14protein-DNA complex disassembly (GO:0032986)2.32042531
15nucleosome disassembly (GO:0006337)2.32042531
16androgen biosynthetic process (GO:0006702)2.31320619
17TOR signaling (GO:0031929)2.30461707
18central nervous system projection neuron axonogenesis (GO:0021952)2.28916813
19neuron cell-cell adhesion (GO:0007158)2.26829648
20gamma-aminobutyric acid transport (GO:0015812)2.26083707
21prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.25446487
22male meiosis (GO:0007140)2.25276732
23embryonic camera-type eye morphogenesis (GO:0048596)2.24508697
24central nervous system neuron axonogenesis (GO:0021955)2.24268324
25microtubule anchoring (GO:0034453)2.23180398
26embryonic retina morphogenesis in camera-type eye (GO:0060059)2.23098604
27histone H3-K9 methylation (GO:0051567)2.22440193
28neural tube formation (GO:0001841)2.22012945
29axonal fasciculation (GO:0007413)2.21735603
30appendage development (GO:0048736)2.21451856
31limb development (GO:0060173)2.21451856
32fibroblast migration (GO:0010761)2.21369705
33regulation of sarcomere organization (GO:0060297)2.21003056
34positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.20611391
35nuclear pore complex assembly (GO:0051292)2.20584977
36negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.19953090
37histone H3-K36 demethylation (GO:0070544)2.18157261
38regulation of pigment cell differentiation (GO:0050932)2.17556729
39cilium or flagellum-dependent cell motility (GO:0001539)2.16858663
40negative regulation of translation, ncRNA-mediated (GO:0040033)2.16740064
41regulation of translation, ncRNA-mediated (GO:0045974)2.16740064
42negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.16740064
43regulation of short-term neuronal synaptic plasticity (GO:0048172)2.15444034
44acrosome reaction (GO:0007340)2.15373329
45embryonic foregut morphogenesis (GO:0048617)2.14667023
46UDP-N-acetylglucosamine metabolic process (GO:0006047)2.14567901
47motile cilium assembly (GO:0044458)2.13628186
48peptidyl-lysine dimethylation (GO:0018027)2.13488685
49Leydig cell differentiation (GO:0033327)2.13292366
50neuron projection extension involved in neuron projection guidance (GO:1902284)2.12682790
51axon extension involved in axon guidance (GO:0048846)2.12682790
52gastrulation with mouth forming second (GO:0001702)2.12595566
53regulation of phosphoprotein phosphatase activity (GO:0043666)2.12585731
54positive regulation of dendrite morphogenesis (GO:0050775)2.12357774
55postsynaptic membrane organization (GO:0001941)2.11987793
56nucleobase catabolic process (GO:0046113)2.10167855
57microtubule depolymerization (GO:0007019)2.08175835
58DNA integration (GO:0015074)2.07721259
59limb bud formation (GO:0060174)2.06021434
60protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)2.05094392
61gene silencing by RNA (GO:0031047)2.04757981
62proximal/distal pattern formation (GO:0009954)2.03840528
63dicarboxylic acid biosynthetic process (GO:0043650)2.03735333
64microtubule severing (GO:0051013)2.02018790
65establishment of nucleus localization (GO:0040023)2.01721990
66coronary vasculature morphogenesis (GO:0060977)2.00785573
67calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)1.99934432
68intraciliary transport (GO:0042073)1.99359814
69neurotransmitter-gated ion channel clustering (GO:0072578)1.99284370
70monoubiquitinated protein deubiquitination (GO:0035520)1.99243392
71histone lysine methylation (GO:0034968)1.98425072
72COPII vesicle coating (GO:0048208)1.98309571
73neuron recognition (GO:0008038)1.98146469
74nucleus localization (GO:0051647)1.97817756
75positive regulation of dendritic spine morphogenesis (GO:0061003)1.96319265
76presynaptic membrane organization (GO:0097090)1.95874228
77dicarboxylic acid catabolic process (GO:0043649)1.95702238
78cilium assembly (GO:0042384)1.95444439
79mitotic sister chromatid cohesion (GO:0007064)1.95194328
80establishment of protein localization to Golgi (GO:0072600)1.94881538
81sympathetic nervous system development (GO:0048485)1.92231079
82regulation of NFAT protein import into nucleus (GO:0051532)1.91076813
83artery development (GO:0060840)1.88543402
84establishment of spindle orientation (GO:0051294)1.88011863
85centrosome duplication (GO:0051298)1.87743791
86synapsis (GO:0007129)1.87553178
87cilium organization (GO:0044782)1.87513077
88protein localization to synapse (GO:0035418)1.87010574
89establishment of spindle localization (GO:0051293)1.86874715
90synaptic vesicle docking involved in exocytosis (GO:0016081)1.86787917
91amino-acid betaine transport (GO:0015838)1.86424610
92carnitine transport (GO:0015879)1.86424610
93asymmetric protein localization (GO:0008105)1.86078005
94regulation of smoothened signaling pathway (GO:0008589)1.85971498
95protein targeting to lysosome (GO:0006622)1.85948052
96establishment of protein localization to vacuole (GO:0072666)1.85948052
97protein targeting to vacuole (GO:0006623)1.85948052
98embryonic digit morphogenesis (GO:0042733)1.85564112
99embryonic skeletal system morphogenesis (GO:0048704)1.85121441
100negative regulation of cytosolic calcium ion concentration (GO:0051481)1.84920339

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZFP322A_24550733_ChIP-Seq_MESCs_Mouse4.27395432
2GBX2_23144817_ChIP-Seq_PC3_Human3.87654176
3IGF1R_20145208_ChIP-Seq_DFB_Human3.55753615
4* ESR1_20079471_ChIP-ChIP_T-47D_Human3.11185610
5EZH2_22144423_ChIP-Seq_EOC_Human2.60501576
6HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.46910139
7CTBP2_25329375_ChIP-Seq_LNCAP_Human2.33726161
8SALL1_21062744_ChIP-ChIP_HESCs_Human2.27983190
9CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.21435526
10SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.19942219
11* AHR_22903824_ChIP-Seq_MCF-7_Human2.19299397
12FUS_26573619_Chip-Seq_HEK293_Human2.13133790
13FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.03172964
14ER_23166858_ChIP-Seq_MCF-7_Human2.02690549
15POU3F2_20337985_ChIP-ChIP_501MEL_Human1.97816765
16* ARNT_22903824_ChIP-Seq_MCF-7_Human1.97574606
17ZNF274_21170338_ChIP-Seq_K562_Hela1.93372653
18ZNF217_24962896_ChIP-Seq_MCF-7_Human1.92094886
19RBPJ_22232070_ChIP-Seq_NCS_Mouse1.91138213
20SMAD4_21799915_ChIP-Seq_A2780_Human1.88042048
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.85906861
22TAF15_26573619_Chip-Seq_HEK293_Human1.85596518
23CDX2_19796622_ChIP-Seq_MESCs_Mouse1.81917484
24PIAS1_25552417_ChIP-Seq_VCAP_Human1.81550700
25CBX2_27304074_Chip-Seq_ESCs_Mouse1.77356989
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.75205663
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.73053365
28EWS_26573619_Chip-Seq_HEK293_Human1.72533705
29FOXM1_23109430_ChIP-Seq_U2OS_Human1.72069876
30AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.70480961
31* STAT3_23295773_ChIP-Seq_U87_Human1.68328046
32* AR_21572438_ChIP-Seq_LNCaP_Human1.67925182
33* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.65485707
34PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.60406374
35KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.55065599
36AR_21909140_ChIP-Seq_LNCAP_Human1.54464785
37MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.54450948
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.54197410
39IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.50655756
40CBP_20019798_ChIP-Seq_JUKART_Human1.50655756
41* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.49471601
42TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48051931
43POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.48051931
44ESR1_15608294_ChIP-ChIP_MCF-7_Human1.47958769
45P300_19829295_ChIP-Seq_ESCs_Human1.47937157
46ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.43803026
47* PKCTHETA_26484144_Chip-Seq_BREAST_Human1.42705543
48TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.41367084
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.39633570
50FOXM1_26456572_ChIP-Seq_MCF-7_Human1.36409455
51* TCF4_23295773_ChIP-Seq_U87_Human1.33708261
52SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32856661
53KLF5_20875108_ChIP-Seq_MESCs_Mouse1.31281790
54EED_16625203_ChIP-ChIP_MESCs_Mouse1.30026492
55FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.27956087
56AR_25329375_ChIP-Seq_VCAP_Human1.27569054
57RNF2_27304074_Chip-Seq_NSC_Mouse1.27289844
58NR3C1_21868756_ChIP-Seq_MCF10A_Human1.24447547
59SOX2_21211035_ChIP-Seq_LN229_Gbm1.24430956
60RUNX2_22187159_ChIP-Seq_PCA_Human1.24413926
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23255225
62CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.21101266
63VDR_22108803_ChIP-Seq_LS180_Human1.20802923
64UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.20707986
65TP53_16413492_ChIP-PET_HCT116_Human1.20699240
66YAP1_20516196_ChIP-Seq_MESCs_Mouse1.19513354
67WT1_19549856_ChIP-ChIP_CCG9911_Human1.18616124
68TP53_18474530_ChIP-ChIP_U2OS_Human1.18438853
69* AR_19668381_ChIP-Seq_PC3_Human1.17773698
70EZH2_27304074_Chip-Seq_ESCs_Mouse1.15833644
71* WDR5_24793694_ChIP-Seq_LNCAP_Human1.15133799
72CTNNB1_20460455_ChIP-Seq_HCT116_Human1.11876984
73TP63_19390658_ChIP-ChIP_HaCaT_Human1.11582201
74RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.11424268
75HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.10567209
76OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09972739
77JARID2_20064375_ChIP-Seq_MESCs_Mouse1.09448351
78TBX3_20139965_ChIP-Seq_ESCs_Mouse1.08583578
79TBX3_20139965_ChIP-Seq_MESCs_Mouse1.07536244
80TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07438742
81SOX9_26525672_Chip-Seq_HEART_Mouse1.07309066
82DROSHA_22980978_ChIP-Seq_HELA_Human1.06472873
83EZH2_18974828_ChIP-Seq_MESCs_Mouse1.06308883
84RNF2_18974828_ChIP-Seq_MESCs_Mouse1.06308883
85IRF1_19129219_ChIP-ChIP_H3396_Human1.05198429
86PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.04278871
87* TBL1_22424771_ChIP-Seq_293T_Human0.99320707
88NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.98305486
89NRF2_20460467_ChIP-Seq_MEFs_Mouse0.98305486
90* FOXA2_19822575_ChIP-Seq_HepG2_Human0.97985618
91EP300_21415370_ChIP-Seq_HL-1_Mouse0.97334336
92* RXR_22108803_ChIP-Seq_LS180_Human0.93547554
93STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.91590511
94CJUN_26792858_Chip-Seq_BT549_Human0.90275291
95FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.90140576
96* SMAD4_21741376_ChIP-Seq_EPCs_Human0.89693174
97E2F7_22180533_ChIP-Seq_HELA_Human0.89567336
98ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.89330687
99SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.88405414
100TCF4_18268006_ChIP-ChIP_LS174T_Human0.87657186

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication2.37411452
2MP0003315_abnormal_perineum_morphology2.11250992
3MP0002249_abnormal_larynx_morphology1.96797603
4MP0002160_abnormal_reproductive_system1.93435495
5MP0005187_abnormal_penis_morphology1.81822691
6MP0000537_abnormal_urethra_morphology1.76753299
7MP0005499_abnormal_olfactory_system1.75016413
8MP0005394_taste/olfaction_phenotype1.75016413
9MP0002102_abnormal_ear_morphology1.67547521
10MP0003937_abnormal_limbs/digits/tail_de1.67401385
11MP0003385_abnormal_body_wall1.66878062
12MP0000778_abnormal_nervous_system1.66756776
13MP0001984_abnormal_olfaction1.63413956
14MP0006292_abnormal_olfactory_placode1.63052512
15MP0002822_catalepsy1.62102546
16MP0004233_abnormal_muscle_weight1.54470733
17MP0008789_abnormal_olfactory_epithelium1.50031428
18MP0002233_abnormal_nose_morphology1.47797807
19MP0000049_abnormal_middle_ear1.43280907
20MP0010368_abnormal_lymphatic_system1.42623268
21MP0000383_abnormal_hair_follicle1.39337135
22MP0003935_abnormal_craniofacial_develop1.37419444
23MP0001188_hyperpigmentation1.36635265
24MP0009697_abnormal_copulation1.36440093
25MP0000534_abnormal_ureter_morphology1.35756451
26MP0003890_abnormal_embryonic-extraembry1.33830843
27MP0001299_abnormal_eye_distance/1.33681754
28MP0005248_abnormal_Harderian_gland1.33371025
29MP0001529_abnormal_vocalization1.29132281
30MP0003755_abnormal_palate_morphology1.25902872
31MP0004272_abnormal_basement_membrane1.22062656
32MP0003942_abnormal_urinary_system1.21733528
33MP0000428_abnormal_craniofacial_morphol1.18566100
34MP0005409_darkened_coat_color1.16983851
35MP0000538_abnormal_urinary_bladder1.16108867
36MP0002638_abnormal_pupillary_reflex1.16036880
37MP0002009_preneoplasia1.15234628
38MP0005503_abnormal_tendon_morphology1.14864628
39MP0002938_white_spotting1.14400525
40MP0002184_abnormal_innervation1.13263030
41MP0000569_abnormal_digit_pigmentation1.12152002
42MP0005646_abnormal_pituitary_gland1.11673465
43MP0000631_abnormal_neuroendocrine_gland1.09686250
44MP0008995_early_reproductive_senescence1.09266175
45MP0003115_abnormal_respiratory_system1.08788525
46MP0003861_abnormal_nervous_system1.08680317
47MP0009780_abnormal_chondrocyte_physiolo1.07829680
48MP0002108_abnormal_muscle_morphology1.06758472
49MP0009250_abnormal_appendicular_skeleto1.06380163
50MP0009046_muscle_twitch1.04976125
51MP0001664_abnormal_digestion1.02675661
52MP0005257_abnormal_intraocular_pressure1.02467896
53MP0005410_abnormal_fertilization1.02057047
54MP0010678_abnormal_skin_adnexa1.01324536
55MP0002697_abnormal_eye_size0.99530372
56MP0001270_distended_abdomen0.98595662
57MP0000566_synostosis0.98587477
58MP0004197_abnormal_fetal_growth/weight/0.98565383
59MP0003698_abnormal_male_reproductive0.97958975
60MP0002116_abnormal_craniofacial_bone0.97537404
61MP0002084_abnormal_developmental_patter0.96533186
62MP0002092_abnormal_eye_morphology0.94861528
63MP0000427_abnormal_hair_cycle0.93856916
64MP0004134_abnormal_chest_morphology0.91020327
65MP0010094_abnormal_chromosome_stability0.90980005
66MP0000432_abnormal_head_morphology0.90179912
67MP0001929_abnormal_gametogenesis0.90035180
68MP0003868_abnormal_feces_composition0.89566584
69MP0003122_maternal_imprinting0.87874307
70MP0003938_abnormal_ear_development0.86941242
71MP0003136_yellow_coat_color0.86358542
72MP0003121_genomic_imprinting0.85539902
73MP0003119_abnormal_digestive_system0.85227372
74MP0006276_abnormal_autonomic_nervous0.85219355
75MP0000955_abnormal_spinal_cord0.84145297
76MP0003632_abnormal_nervous_system0.84133173
77MP0001286_abnormal_eye_development0.83692818
78MP0002152_abnormal_brain_morphology0.83648403
79MP0010030_abnormal_orbit_morphology0.83519635
80MP0004859_abnormal_synaptic_plasticity0.83470127
81MP0002234_abnormal_pharynx_morphology0.82802983
82MP0005391_vision/eye_phenotype0.82531554
83MP0001293_anophthalmia0.82401295
84MP0002114_abnormal_axial_skeleton0.81926213
85MP0000516_abnormal_urinary_system0.81436311
86MP0005367_renal/urinary_system_phenotyp0.81436311
87MP0003635_abnormal_synaptic_transmissio0.81208353
88MP0004264_abnormal_extraembryonic_tissu0.79379214
89MP0002751_abnormal_autonomic_nervous0.79341547
90MP0000462_abnormal_digestive_system0.79124176
91MP0004270_analgesia0.78869841
92MP0003718_maternal_effect0.78793476
93MP0002557_abnormal_social/conspecific_i0.77956747
94MP0002109_abnormal_limb_morphology0.76929256
95MP0010386_abnormal_urinary_bladder0.76685616
96MP0008058_abnormal_DNA_repair0.76535157
97MP0002085_abnormal_embryonic_tissue0.76252629
98MP0002081_perinatal_lethality0.76251931
99MP0000733_abnormal_muscle_development0.76001661
100MP0002882_abnormal_neuron_morphology0.75654246

Predicted human phenotypes

RankGene SetZ-score
1Facial hemangioma (HP:0000329)2.99515457
2Hyperventilation (HP:0002883)2.64046919
3High anterior hairline (HP:0009890)2.50243920
4Genetic anticipation (HP:0003743)2.40945879
5Chromsome breakage (HP:0040012)2.36043224
6Hepatoblastoma (HP:0002884)2.30519378
7Capillary hemangiomas (HP:0005306)2.28922888
8Protruding tongue (HP:0010808)2.28765092
9Midline defect of the nose (HP:0004122)2.22382884
10Cerebellar dysplasia (HP:0007033)2.13310549
11Tubulointerstitial nephritis (HP:0001970)2.10729799
12Heterotopia (HP:0002282)2.09971030
13Renovascular hypertension (HP:0100817)2.07100665
14Abnormality of the columella (HP:0009929)2.06579943
15Absent speech (HP:0001344)2.02494473
16Preaxial foot polydactyly (HP:0001841)2.02436680
17Absent radius (HP:0003974)2.01829037
18Chromosomal breakage induced by crosslinking agents (HP:0003221)2.01409590
19Cutaneous finger syndactyly (HP:0010554)1.97861724
20Urinary urgency (HP:0000012)1.93847674
21Aplasia involving forearm bones (HP:0009822)1.91625318
22Absent forearm bone (HP:0003953)1.91625318
23Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.89667870
24Papillary thyroid carcinoma (HP:0002895)1.89060460
25Drooling (HP:0002307)1.87319692
26Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.87014569
27Decreased lacrimation (HP:0000633)1.86582616
28Abnormality of the ischium (HP:0003174)1.86573881
29Progressive cerebellar ataxia (HP:0002073)1.86107325
30Self-mutilation (HP:0000742)1.81187304
31Patellar aplasia (HP:0006443)1.77901172
32Cystic liver disease (HP:0006706)1.76884607
33Long eyelashes (HP:0000527)1.75858291
34Open mouth (HP:0000194)1.74795232
35Abnormality of the phalanges of the hallux (HP:0010057)1.73653196
36Septate vagina (HP:0001153)1.70771920
37Narrow palate (HP:0000189)1.69087337
38Cutaneous syndactyly (HP:0012725)1.69026405
39Aplasia/Hypoplasia of the tongue (HP:0010295)1.69005556
40Hypoplastic ischia (HP:0003175)1.68177422
41Morphological abnormality of the middle ear (HP:0008609)1.67288204
42Truncal obesity (HP:0001956)1.66923294
43Medulloblastoma (HP:0002885)1.65546495
44Bifid scrotum (HP:0000048)1.65490149
45Thick eyebrow (HP:0000574)1.65229186
46Asymmetry of the thorax (HP:0001555)1.63901708
47Atonic seizures (HP:0010819)1.63496390
48Aplasia/Hypoplasia of the tibia (HP:0005772)1.63092482
49Abnormality of the distal phalanx of the thumb (HP:0009617)1.62980428
50Retinal dysplasia (HP:0007973)1.62747988
51Germ cell neoplasia (HP:0100728)1.62497540
52Neoplasm of the heart (HP:0100544)1.61304243
53Bifid tongue (HP:0010297)1.60362093
54Astrocytoma (HP:0009592)1.60091555
55Abnormality of the astrocytes (HP:0100707)1.60091555
56Enlarged kidneys (HP:0000105)1.59228828
57Renal dysplasia (HP:0000110)1.57749737
58Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.57627852
59Short 4th metacarpal (HP:0010044)1.57627852
60Gaze-evoked nystagmus (HP:0000640)1.57165077
61Tapered finger (HP:0001182)1.56301683
62Aplasia/Hypoplasia of the sternum (HP:0006714)1.55334014
63Abnormality of the ileum (HP:0001549)1.55014404
64Volvulus (HP:0002580)1.53552733
65Postaxial foot polydactyly (HP:0001830)1.52691522
66Duplication of thumb phalanx (HP:0009942)1.52335585
67Alacrima (HP:0000522)1.52193523
68Abnormality of the carotid arteries (HP:0005344)1.52192636
69Aplasia/Hypoplasia of the patella (HP:0006498)1.52178381
70Poor coordination (HP:0002370)1.51712736
71Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.51706971
72Tented upper lip vermilion (HP:0010804)1.51627824
73Pancreatic cysts (HP:0001737)1.51614541
74Broad-based gait (HP:0002136)1.51484109
75Aplasia/Hypoplasia of the uvula (HP:0010293)1.51430379
76Sandal gap (HP:0001852)1.51386846
77Excessive salivation (HP:0003781)1.51374432
78Abnormality of the pubic bones (HP:0003172)1.50794826
79Bronchomalacia (HP:0002780)1.49877515
80Abnormality of the intrinsic pathway (HP:0010989)1.49498808
81True hermaphroditism (HP:0010459)1.48817350
82Cystic hygroma (HP:0000476)1.48465967
83Abnormality of the incisor (HP:0000676)1.47962603
84Microglossia (HP:0000171)1.47379340
85Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.47099704
86Occipital encephalocele (HP:0002085)1.46772071
87Abnormality of the aortic arch (HP:0012303)1.46157314
88Hypopigmentation of the fundus (HP:0007894)1.45481889
89Cortical dysplasia (HP:0002539)1.45271053
90Shawl scrotum (HP:0000049)1.44056818
91Meckel diverticulum (HP:0002245)1.43101448
92Hypoplasia of the brainstem (HP:0002365)1.42634492
93Aplasia/Hypoplasia of the brainstem (HP:0007362)1.42634492
94Male pseudohermaphroditism (HP:0000037)1.41794059
95Hyperacusis (HP:0010780)1.41318620
96Laryngomalacia (HP:0001601)1.41161585
97Pancreatic fibrosis (HP:0100732)1.40838517
98Aortic aneurysm (HP:0004942)1.40805159
99Glioma (HP:0009733)1.40093543
100Polycystic kidney dysplasia (HP:0000113)1.39509326

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.08615127
2AKT33.48513750
3LATS13.33359345
4PINK13.30265653
5CDK122.78778400
6MAP2K72.69674278
7CASK2.64958205
8STK38L2.41748012
9MAP3K42.31021301
10NEK21.94725995
11PKN21.94348486
12CSNK1A1L1.77895245
13BRD41.75685233
14MARK11.71800613
15CAMK1G1.62554170
16PIK3CA1.61101556
17BCR1.53853705
18ICK1.52585144
19STK381.40348735
20FGFR21.40056798
21TRIB31.35715673
22MARK31.27634552
23CSNK1G31.25528691
24MAPK131.23888842
25CAMK1D1.23727975
26MET1.21625190
27SGK2231.21250800
28SGK4941.21250800
29SRPK11.19747810
30SGK21.19419425
31BMPR1B1.18779634
32RET1.18596627
33PNCK1.17776051
34MYLK1.14703302
35CSNK1G11.13790249
36EEF2K1.13520659
37CDK31.11663476
38EPHA41.11013541
39MTOR1.10846883
40CSNK1G21.06221773
41PDGFRA1.04392878
42SCYL20.98865338
43INSRR0.95656555
44RPS6KB10.94113098
45PBK0.93298865
46WNK30.93068957
47MELK0.88608590
48LATS20.86970041
49NTRK20.84121001
50PRKAA10.75617690
51ZAK0.75355977
52PRKD30.74780967
53ATM0.72775479
54MST1R0.71991557
55MAP3K60.68121011
56ACVR1B0.67947721
57ATR0.66958000
58SGK30.63879756
59KSR10.63059716
60BRSK20.63007586
61MAP3K100.61644651
62MAP2K40.60149295
63WEE10.59629444
64DYRK30.58326576
65SIK20.56178095
66STK390.55691065
67PLK10.54580970
68MKNK20.52805392
69NEK60.52440567
70ERBB30.50775556
71CDK10.50607982
72GRK10.50156496
73OBSCN0.49549082
74TTK0.49469758
75PAK60.49393324
76GSK3B0.48878561
77STK30.47801308
78NTRK30.47548527
79CDK70.47289578
80CAMK40.46357258
81WNK10.45158107
82CSNK1D0.44534605
83AURKB0.44213888
84CDC42BPA0.44142641
85CHEK10.43781682
86PDGFRB0.43584227
87EPHB20.42987514
88MAPK100.42559504
89RPS6KA50.42126118
90MAP4K20.41007014
91PAK30.39898674
92CDK90.39450355
93PAK20.39107882
94CDK20.38989742
95WNK40.38828854
96EPHA20.38650242
97CDK50.38520045
98CSNK1E0.38400158
99PRKAA20.38372233
100FGFR10.38370095

Predicted pathways (KEGG)

RankGene SetZ-score
1Lysine degradation_Homo sapiens_hsa003102.10295306
2Gap junction_Homo sapiens_hsa045401.80539741
3Butanoate metabolism_Homo sapiens_hsa006501.75160650
4Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.70908504
5Fanconi anemia pathway_Homo sapiens_hsa034601.66068470
6Hedgehog signaling pathway_Homo sapiens_hsa043401.60074358
7TGF-beta signaling pathway_Homo sapiens_hsa043501.29636008
8Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.28059774
9Nicotine addiction_Homo sapiens_hsa050331.26093132
10Circadian rhythm_Homo sapiens_hsa047101.20244298
11mRNA surveillance pathway_Homo sapiens_hsa030151.19270764
12Hippo signaling pathway_Homo sapiens_hsa043901.19009322
13Taste transduction_Homo sapiens_hsa047421.15211204
14Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.14050242
15Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.13625044
16Steroid hormone biosynthesis_Homo sapiens_hsa001401.12263914
17Propanoate metabolism_Homo sapiens_hsa006401.12176711
18Oocyte meiosis_Homo sapiens_hsa041141.11615830
19Endometrial cancer_Homo sapiens_hsa052131.11018844
20Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.09460323
21Axon guidance_Homo sapiens_hsa043601.08636436
22Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.08013864
23ABC transporters_Homo sapiens_hsa020101.07198407
24AMPK signaling pathway_Homo sapiens_hsa041521.05491890
25Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.04364650
26Olfactory transduction_Homo sapiens_hsa047401.04030585
27Steroid biosynthesis_Homo sapiens_hsa001001.01091867
28Longevity regulating pathway - mammal_Homo sapiens_hsa042111.00522055
29Adherens junction_Homo sapiens_hsa045200.99224523
30mTOR signaling pathway_Homo sapiens_hsa041500.98918205
31Selenocompound metabolism_Homo sapiens_hsa004500.98689798
32Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.97840197
33Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97140251
34Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.96804230
35Thyroid hormone signaling pathway_Homo sapiens_hsa049190.96114191
36Basal cell carcinoma_Homo sapiens_hsa052170.95936870
37GABAergic synapse_Homo sapiens_hsa047270.89677710
38Nitrogen metabolism_Homo sapiens_hsa009100.89347502
39Circadian entrainment_Homo sapiens_hsa047130.88912260
40Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.87601224
41Wnt signaling pathway_Homo sapiens_hsa043100.87495297
42Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86944554
43Choline metabolism in cancer_Homo sapiens_hsa052310.86576095
44Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.86156250
45beta-Alanine metabolism_Homo sapiens_hsa004100.85410117
46Tight junction_Homo sapiens_hsa045300.85365820
47Arginine biosynthesis_Homo sapiens_hsa002200.85035159
48Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.83865055
49Prostate cancer_Homo sapiens_hsa052150.83090402
50Glioma_Homo sapiens_hsa052140.82697807
51Aldosterone synthesis and secretion_Homo sapiens_hsa049250.82640314
52Homologous recombination_Homo sapiens_hsa034400.82497141
53Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.82461393
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.81431545
55Cell cycle_Homo sapiens_hsa041100.80623788
56Melanoma_Homo sapiens_hsa052180.80529463
57ErbB signaling pathway_Homo sapiens_hsa040120.79397069
58MicroRNAs in cancer_Homo sapiens_hsa052060.77810767
59Phosphatidylinositol signaling system_Homo sapiens_hsa040700.76815978
60Glutamatergic synapse_Homo sapiens_hsa047240.76357972
61Non-homologous end-joining_Homo sapiens_hsa034500.75037760
62cGMP-PKG signaling pathway_Homo sapiens_hsa040220.74347009
63Melanogenesis_Homo sapiens_hsa049160.74305026
64Histidine metabolism_Homo sapiens_hsa003400.70790005
65Glucagon signaling pathway_Homo sapiens_hsa049220.70475349
66Bile secretion_Homo sapiens_hsa049760.69382214
67ECM-receptor interaction_Homo sapiens_hsa045120.69242351
68Dopaminergic synapse_Homo sapiens_hsa047280.68850484
69Type II diabetes mellitus_Homo sapiens_hsa049300.68272122
70FoxO signaling pathway_Homo sapiens_hsa040680.68218441
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.68080110
72Estrogen signaling pathway_Homo sapiens_hsa049150.67115123
73Alcoholism_Homo sapiens_hsa050340.65824978
74Fatty acid biosynthesis_Homo sapiens_hsa000610.64883887
75Tryptophan metabolism_Homo sapiens_hsa003800.64865787
76Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.63305632
77Basal transcription factors_Homo sapiens_hsa030220.63132461
78Focal adhesion_Homo sapiens_hsa045100.62644334
79Renin secretion_Homo sapiens_hsa049240.62214537
80Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.62121190
81Cocaine addiction_Homo sapiens_hsa050300.62007683
82Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61150812
83Chemical carcinogenesis_Homo sapiens_hsa052040.60987193
84Phototransduction_Homo sapiens_hsa047440.59679735
85Cholinergic synapse_Homo sapiens_hsa047250.59407999
86Salivary secretion_Homo sapiens_hsa049700.59303999
87Dorso-ventral axis formation_Homo sapiens_hsa043200.58635838
88Thyroid cancer_Homo sapiens_hsa052160.57941603
89Oxytocin signaling pathway_Homo sapiens_hsa049210.57220901
90Fatty acid metabolism_Homo sapiens_hsa012120.55688170
91Insulin signaling pathway_Homo sapiens_hsa049100.55140766
92Dilated cardiomyopathy_Homo sapiens_hsa054140.54791660
93Long-term depression_Homo sapiens_hsa047300.54699379
94Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.54432823
95Long-term potentiation_Homo sapiens_hsa047200.53669284
96Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.53096762
97RNA transport_Homo sapiens_hsa030130.52739379
98Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.52323663
99Insulin secretion_Homo sapiens_hsa049110.52269520
100Ovarian steroidogenesis_Homo sapiens_hsa049130.51768186

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