BMS1P1

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 likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neural tube formation (GO:0001841)4.09154229
2behavioral response to nicotine (GO:0035095)4.07104634
3L-fucose catabolic process (GO:0042355)4.06218373
4fucose catabolic process (GO:0019317)4.06218373
5L-fucose metabolic process (GO:0042354)4.06218373
6epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.99613026
7negative regulation of translation, ncRNA-mediated (GO:0040033)3.79321490
8regulation of translation, ncRNA-mediated (GO:0045974)3.79321490
9negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.79321490
10protein K11-linked deubiquitination (GO:0035871)3.71459996
11epithelial cilium movement (GO:0003351)3.67728050
12tryptophan catabolic process (GO:0006569)3.67435490
13indole-containing compound catabolic process (GO:0042436)3.67435490
14indolalkylamine catabolic process (GO:0046218)3.67435490
15indolalkylamine metabolic process (GO:0006586)3.65250163
16positive regulation of developmental pigmentation (GO:0048087)3.45915550
17rRNA catabolic process (GO:0016075)3.45319463
18intraciliary transport (GO:0042073)3.35438135
19pyrimidine nucleobase catabolic process (GO:0006208)3.31167099
20cilium or flagellum-dependent cell motility (GO:0001539)3.31099426
21water-soluble vitamin biosynthetic process (GO:0042364)3.27842725
22tryptophan metabolic process (GO:0006568)3.25560707
23cilium movement (GO:0003341)3.24118586
24DNA double-strand break processing (GO:0000729)3.21978857
25centriole replication (GO:0007099)3.19731420
26replication fork processing (GO:0031297)3.18653261
27cilium morphogenesis (GO:0060271)3.17779340
28axoneme assembly (GO:0035082)3.15661092
29cilium organization (GO:0044782)3.11471246
30kynurenine metabolic process (GO:0070189)3.08507475
31cilium assembly (GO:0042384)3.04819182
32piRNA metabolic process (GO:0034587)3.00710576
33negative regulation of cytosolic calcium ion concentration (GO:0051481)2.98351639
34nucleobase catabolic process (GO:0046113)2.97425420
35DNA methylation involved in gamete generation (GO:0043046)2.97115161
36sulfation (GO:0051923)2.96922931
37prenylation (GO:0097354)2.94824310
38protein prenylation (GO:0018342)2.94824310
39double-strand break repair via homologous recombination (GO:0000724)2.94094553
40recombinational repair (GO:0000725)2.93175663
41regulation of pigment cell differentiation (GO:0050932)2.92789029
42establishment of protein localization to Golgi (GO:0072600)2.91678480
43photoreceptor cell maintenance (GO:0045494)2.82309218
44detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.81994660
45regulation of hippo signaling (GO:0035330)2.81947730
46negative regulation of DNA-dependent DNA replication (GO:2000104)2.80623987
47monoubiquitinated protein deubiquitination (GO:0035520)2.79148538
48S-adenosylmethionine metabolic process (GO:0046500)2.77700266
49regulation of cilium movement (GO:0003352)2.77053975
50anterograde synaptic vesicle transport (GO:0048490)2.74995215
51adaptation of signaling pathway (GO:0023058)2.74374536
52presynaptic membrane assembly (GO:0097105)2.73955735
53response to pheromone (GO:0019236)2.71429460
54interkinetic nuclear migration (GO:0022027)2.66224625
55kidney morphogenesis (GO:0060993)2.65413022
56RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.62407519
57neuronal action potential (GO:0019228)2.62308760
58somite development (GO:0061053)2.58851769
59ncRNA catabolic process (GO:0034661)2.58401330
60cellular response to sterol (GO:0036315)2.58004145
61limb bud formation (GO:0060174)2.57604685
62microtubule anchoring (GO:0034453)2.56688112
63indole-containing compound metabolic process (GO:0042430)2.54985328
64regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.54131302
65behavioral response to ethanol (GO:0048149)2.51510196
66reciprocal DNA recombination (GO:0035825)2.51051191
67reciprocal meiotic recombination (GO:0007131)2.51051191
68detection of light stimulus involved in sensory perception (GO:0050962)2.49756033
69detection of light stimulus involved in visual perception (GO:0050908)2.49756033
70cellular ketone body metabolic process (GO:0046950)2.48805040
71L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.48708661
72sympathetic nervous system development (GO:0048485)2.48335513
73cellular component assembly involved in morphogenesis (GO:0010927)2.47145791
74nonmotile primary cilium assembly (GO:0035058)2.44844550
75atrial cardiac muscle cell action potential (GO:0086014)2.42915507
76cornea development in camera-type eye (GO:0061303)2.41174667
77oxidative demethylation (GO:0070989)2.40923673
78sperm motility (GO:0030317)2.39679539
79spinal cord motor neuron differentiation (GO:0021522)2.39421753
80reflex (GO:0060004)2.39009429
81methionine biosynthetic process (GO:0009086)2.37854585
82regulation of gene silencing by RNA (GO:0060966)2.37650032
83regulation of posttranscriptional gene silencing (GO:0060147)2.37650032
84regulation of gene silencing by miRNA (GO:0060964)2.37650032
85regulation of telomere maintenance (GO:0032204)2.37559515
86gamma-aminobutyric acid transport (GO:0015812)2.37334779
87nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.37247337
88exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.34948284
89regulation of nuclear cell cycle DNA replication (GO:0033262)2.33519018
90protein polyglutamylation (GO:0018095)2.33089021
91photoreceptor cell development (GO:0042461)2.32985281
92preassembly of GPI anchor in ER membrane (GO:0016254)2.32321987
93organelle disassembly (GO:1903008)2.32298928
94meiotic chromosome segregation (GO:0045132)2.31772974
95centriole assembly (GO:0098534)2.31335252
96protein localization to cilium (GO:0061512)2.30880278
97regulation of glucokinase activity (GO:0033131)2.30741510
98regulation of hexokinase activity (GO:1903299)2.30741510
99sphingoid metabolic process (GO:0046519)2.29143515
100aromatic amino acid family catabolic process (GO:0009074)2.28803556

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.41105791
2ZNF274_21170338_ChIP-Seq_K562_Hela3.23324387
3IGF1R_20145208_ChIP-Seq_DFB_Human3.19454091
4POU3F2_20337985_ChIP-ChIP_501MEL_Human2.89660350
5VDR_22108803_ChIP-Seq_LS180_Human2.88731435
6SALL1_21062744_ChIP-ChIP_HESCs_Human2.85834145
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.63737623
8GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.56718465
9FUS_26573619_Chip-Seq_HEK293_Human2.56612696
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.53211379
11EWS_26573619_Chip-Seq_HEK293_Human2.44723773
12* TAF15_26573619_Chip-Seq_HEK293_Human2.39599068
13CTBP2_25329375_ChIP-Seq_LNCAP_Human2.37604520
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.30062162
15P300_19829295_ChIP-Seq_ESCs_Human2.26811080
16* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.19243367
17FLI1_27457419_Chip-Seq_LIVER_Mouse2.16337280
18ER_23166858_ChIP-Seq_MCF-7_Human2.11854887
19EZH2_22144423_ChIP-Seq_EOC_Human2.11418778
20SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.00796641
21AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.95619300
22STAT3_23295773_ChIP-Seq_U87_Human1.82494635
23SMAD4_21799915_ChIP-Seq_A2780_Human1.80155239
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.75373588
25MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.74595402
26RBPJ_22232070_ChIP-Seq_NCS_Mouse1.74329837
27CBP_20019798_ChIP-Seq_JUKART_Human1.72930644
28IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.72930644
29PIAS1_25552417_ChIP-Seq_VCAP_Human1.71487213
30AR_21572438_ChIP-Seq_LNCaP_Human1.69032849
31MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.68635077
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.65671161
33UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.61226309
34TCF4_23295773_ChIP-Seq_U87_Human1.59848957
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.59116920
36TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.57925401
37POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.57925401
38HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.57055873
39PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.55717356
40SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.54833262
41ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.52995463
42SMAD3_21741376_ChIP-Seq_EPCs_Human1.52959060
43HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.52143966
44BCAT_22108803_ChIP-Seq_LS180_Human1.50465948
45AR_25329375_ChIP-Seq_VCAP_Human1.47783120
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46688527
47TOP2B_26459242_ChIP-Seq_MCF-7_Human1.45191190
48NR3C1_21868756_ChIP-Seq_MCF10A_Human1.43139614
49MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.40601204
50TCF4_22108803_ChIP-Seq_LS180_Human1.38380087
51TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.38295123
52SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.37390609
53EZH2_27294783_Chip-Seq_NPCs_Mouse1.36408525
54KLF5_20875108_ChIP-Seq_MESCs_Mouse1.35152290
55RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.35119947
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.34778850
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34332010
58RUNX2_22187159_ChIP-Seq_PCA_Human1.33199892
59TP53_16413492_ChIP-PET_HCT116_Human1.31290686
60PCGF2_27294783_Chip-Seq_NPCs_Mouse1.28226504
61TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.28093150
62EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.25308550
63TP53_22573176_ChIP-Seq_HFKS_Human1.23947126
64FLI1_21867929_ChIP-Seq_TH2_Mouse1.23472111
65SOX2_19829295_ChIP-Seq_ESCs_Human1.23294846
66NANOG_19829295_ChIP-Seq_ESCs_Human1.23294846
67CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.22874191
68NFE2_27457419_Chip-Seq_LIVER_Mouse1.22567268
69NANOG_18555785_Chip-Seq_ESCs_Mouse1.22342211
70CBX2_27304074_Chip-Seq_ESCs_Mouse1.21753553
71E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.20081051
72PRDM14_20953172_ChIP-Seq_ESCs_Human1.19966990
73IRF1_19129219_ChIP-ChIP_H3396_Human1.15599671
74RNF2_27304074_Chip-Seq_NSC_Mouse1.15339150
75EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13672603
76ELK1_19687146_ChIP-ChIP_HELA_Human1.12779971
77CDX2_22108803_ChIP-Seq_LS180_Human1.11842652
78P53_22387025_ChIP-Seq_ESCs_Mouse1.10666165
79CRX_20693478_ChIP-Seq_RETINA_Mouse1.09060514
80GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.08990203
81SMAD4_21741376_ChIP-Seq_EPCs_Human1.07907611
82MYC_18940864_ChIP-ChIP_HL60_Human1.07614124
83NOTCH1_21737748_ChIP-Seq_TLL_Human1.07083466
84TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.06804279
85SOX2_21211035_ChIP-Seq_LN229_Gbm1.06045405
86BMI1_23680149_ChIP-Seq_NPCS_Mouse1.04732774
87WDR5_24793694_ChIP-Seq_LNCAP_Human1.03645371
88TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03001087
89E2F1_18555785_Chip-Seq_ESCs_Mouse1.02934612
90POU5F1_16153702_ChIP-ChIP_HESCs_Human1.01944392
91REST_21632747_ChIP-Seq_MESCs_Mouse0.99957660
92OCT4_21477851_ChIP-Seq_ESCs_Mouse0.99666322
93KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99580598
94FOXM1_26456572_ChIP-Seq_MCF-7_Human0.98055059
95RXR_22108803_ChIP-Seq_LS180_Human0.97286295
96FOXA1_21572438_ChIP-Seq_LNCaP_Human0.96913969
97* TBL1_22424771_ChIP-Seq_293T_Human0.96671963
98CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96428843
99HOXB7_26014856_ChIP-Seq_BT474_Human0.96423436
100ETV2_25802403_ChIP-Seq_MESCs_Mouse0.96321790

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color3.49534288
2MP0000569_abnormal_digit_pigmentation3.29537800
3MP0002837_dystrophic_cardiac_calcinosis2.92489112
4MP0003890_abnormal_embryonic-extraembry2.74395632
5MP0002102_abnormal_ear_morphology2.41964149
6MP0008057_abnormal_DNA_replication2.35042223
7MP0003195_calcinosis2.31704942
8MP0003646_muscle_fatigue2.22387402
9MP0001984_abnormal_olfaction2.06204280
10MP0008877_abnormal_DNA_methylation2.03651058
11MP0005551_abnormal_eye_electrophysiolog2.02605671
12MP0002938_white_spotting1.91375224
13MP0006292_abnormal_olfactory_placode1.88967347
14MP0004043_abnormal_pH_regulation1.83174499
15MP0006072_abnormal_retinal_apoptosis1.78509610
16MP0002653_abnormal_ependyma_morphology1.74606649
17MP0005646_abnormal_pituitary_gland1.74033549
18MP0003880_abnormal_central_pattern1.73211337
19MP0005253_abnormal_eye_physiology1.67104271
20MP0000427_abnormal_hair_cycle1.65710434
21MP0009046_muscle_twitch1.63574813
22MP0008058_abnormal_DNA_repair1.59083432
23MP0000631_abnormal_neuroendocrine_gland1.55984237
24MP0005174_abnormal_tail_pigmentation1.54315180
25MP0006276_abnormal_autonomic_nervous1.54243439
26MP0001188_hyperpigmentation1.52896211
27MP0001968_abnormal_touch/_nociception1.50112653
28MP0002876_abnormal_thyroid_physiology1.48044861
29MP0001486_abnormal_startle_reflex1.46893920
30MP0002735_abnormal_chemical_nociception1.46099199
31MP0001986_abnormal_taste_sensitivity1.44641750
32MP0009697_abnormal_copulation1.43845158
33MP0003787_abnormal_imprinting1.40962347
34MP0002928_abnormal_bile_duct1.40828369
35MP0002638_abnormal_pupillary_reflex1.40802760
36MP0008875_abnormal_xenobiotic_pharmacok1.38716430
37MP0004147_increased_porphyrin_level1.37619091
38MP0002160_abnormal_reproductive_system1.34603931
39MP0004142_abnormal_muscle_tone1.33500209
40MP0005171_absent_coat_pigmentation1.33051390
41MP0001501_abnormal_sleep_pattern1.32698528
42MP0003252_abnormal_bile_duct1.30122928
43MP0005187_abnormal_penis_morphology1.29799486
44MP0005084_abnormal_gallbladder_morpholo1.27606355
45MP0001529_abnormal_vocalization1.26891247
46MP0002272_abnormal_nervous_system1.25681995
47MP0009745_abnormal_behavioral_response1.25241003
48MP0002751_abnormal_autonomic_nervous1.20725532
49MP0003937_abnormal_limbs/digits/tail_de1.20653012
50MP0000383_abnormal_hair_follicle1.18746016
51MP0002234_abnormal_pharynx_morphology1.18352890
52MP0005645_abnormal_hypothalamus_physiol1.16190916
53MP0002095_abnormal_skin_pigmentation1.16178481
54MP0004133_heterotaxia1.15660062
55MP0001485_abnormal_pinna_reflex1.14303580
56MP0008872_abnormal_physiological_respon1.11833021
57MP0000778_abnormal_nervous_system1.11385963
58MP0002572_abnormal_emotion/affect_behav1.09106350
59MP0003698_abnormal_male_reproductive1.08688659
60MP0002736_abnormal_nociception_after1.06565744
61MP0008995_early_reproductive_senescence1.04754293
62MP0002557_abnormal_social/conspecific_i1.02061130
63MP0004885_abnormal_endolymph1.01329704
64MP0001324_abnormal_eye_pigmentation0.99844600
65MP0003718_maternal_effect0.99053669
66MP0001293_anophthalmia0.98496801
67MP0001929_abnormal_gametogenesis0.97571578
68MP0010094_abnormal_chromosome_stability0.96132005
69MP0005386_behavior/neurological_phenoty0.95878922
70MP0004924_abnormal_behavior0.95878922
71MP0005085_abnormal_gallbladder_physiolo0.95738688
72MP0005389_reproductive_system_phenotype0.95529519
73MP0002184_abnormal_innervation0.92192009
74MP0003121_genomic_imprinting0.92129265
75MP0002064_seizures0.91971292
76MP0002233_abnormal_nose_morphology0.91033799
77MP0004145_abnormal_muscle_electrophysio0.90563821
78MP0004215_abnormal_myocardial_fiber0.89517318
79MP0002067_abnormal_sensory_capabilities0.89267708
80MP0005410_abnormal_fertilization0.88772903
81MP0003045_fibrosis0.88400215
82MP0002009_preneoplasia0.88200961
83MP0003943_abnormal_hepatobiliary_system0.86952178
84MP0001286_abnormal_eye_development0.86603552
85MP0005391_vision/eye_phenotype0.86015596
86MP0000372_irregular_coat_pigmentation0.85936250
87MP0002752_abnormal_somatic_nervous0.85799293
88MP0004742_abnormal_vestibular_system0.85504773
89MP0008789_abnormal_olfactory_epithelium0.85099657
90MP0010386_abnormal_urinary_bladder0.84992404
91MP0005423_abnormal_somatic_nervous0.84772773
92MP0003878_abnormal_ear_physiology0.84464098
93MP0005377_hearing/vestibular/ear_phenot0.84464098
94MP0005195_abnormal_posterior_eye0.83312997
95MP0000647_abnormal_sebaceous_gland0.82874141
96MP0006035_abnormal_mitochondrial_morpho0.82315657
97MP0002210_abnormal_sex_determination0.82296454
98MP0003635_abnormal_synaptic_transmissio0.81857287
99MP0001299_abnormal_eye_distance/0.80022816
100MP0003119_abnormal_digestive_system0.79965894

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.55085694
2Pancreatic fibrosis (HP:0100732)4.17332867
3Hyperventilation (HP:0002883)4.03169952
4True hermaphroditism (HP:0010459)3.93234601
5Abnormality of midbrain morphology (HP:0002418)3.57898199
6Molar tooth sign on MRI (HP:0002419)3.57898199
7Nephronophthisis (HP:0000090)3.52682832
8Abnormality of the renal medulla (HP:0100957)3.19712932
9Chronic hepatic failure (HP:0100626)3.17599933
10Abnormality of the renal cortex (HP:0011035)3.09793576
11Medial flaring of the eyebrow (HP:0010747)2.91561374
12Cystic liver disease (HP:0006706)2.84038158
13Broad-based gait (HP:0002136)2.81210487
14Gaze-evoked nystagmus (HP:0000640)2.68207020
15Type II lissencephaly (HP:0007260)2.62267603
16Attenuation of retinal blood vessels (HP:0007843)2.54000624
17Aplasia/Hypoplasia of the tibia (HP:0005772)2.51973061
18Aplasia/Hypoplasia of the uvula (HP:0010293)2.49759813
19Protruding tongue (HP:0010808)2.47836582
20Dynein arm defect of respiratory motile cilia (HP:0012255)2.45648905
21Absent/shortened dynein arms (HP:0200106)2.45648905
22Tubular atrophy (HP:0000092)2.45149887
23Gait imbalance (HP:0002141)2.43684817
24Inability to walk (HP:0002540)2.43321656
25Cerebellar dysplasia (HP:0007033)2.42077926
26Aplasia/Hypoplasia of the tongue (HP:0010295)2.41066122
27Congenital primary aphakia (HP:0007707)2.41017495
28Abnormality of the labia minora (HP:0012880)2.35079328
29Bile duct proliferation (HP:0001408)2.34868970
30Abnormal biliary tract physiology (HP:0012439)2.34868970
31Genital tract atresia (HP:0001827)2.33919190
32Sclerocornea (HP:0000647)2.32328332
33Postaxial foot polydactyly (HP:0001830)2.31047563
34Progressive inability to walk (HP:0002505)2.29132110
35Nephrogenic diabetes insipidus (HP:0009806)2.28425144
36Lissencephaly (HP:0001339)2.28091469
37Tubulointerstitial nephritis (HP:0001970)2.26966546
38Hypothermia (HP:0002045)2.26172883
39Anencephaly (HP:0002323)2.25204705
40Congenital stationary night blindness (HP:0007642)2.22292853
41Vaginal atresia (HP:0000148)2.19779093
42Renal cortical cysts (HP:0000803)2.18324547
43Absent speech (HP:0001344)2.18077959
44Hyperglycinemia (HP:0002154)2.17196707
45Congenital hepatic fibrosis (HP:0002612)2.15093185
46Methylmalonic acidemia (HP:0002912)2.14892523
47Preaxial hand polydactyly (HP:0001177)2.13634088
48Abolished electroretinogram (ERG) (HP:0000550)2.12219060
49Colon cancer (HP:0003003)2.11753942
50Poor coordination (HP:0002370)2.11630383
51Widely spaced teeth (HP:0000687)2.11222922
52Abnormal ciliary motility (HP:0012262)2.02532634
53Focal motor seizures (HP:0011153)2.00541452
54Intestinal atresia (HP:0011100)1.98370010
55Genetic anticipation (HP:0003743)1.98368603
56Volvulus (HP:0002580)1.97383205
57Progressive cerebellar ataxia (HP:0002073)1.96472717
58Sloping forehead (HP:0000340)1.95700903
59Male pseudohermaphroditism (HP:0000037)1.95567491
60Febrile seizures (HP:0002373)1.95272496
61Abnormal respiratory motile cilium morphology (HP:0005938)1.93998306
62Abnormal respiratory epithelium morphology (HP:0012253)1.93998306
63Drooling (HP:0002307)1.93324245
64Large for gestational age (HP:0001520)1.93111277
65Postaxial hand polydactyly (HP:0001162)1.92494938
66Furrowed tongue (HP:0000221)1.90745106
67Fair hair (HP:0002286)1.90303399
68Abnormality of macular pigmentation (HP:0008002)1.89438763
69Occipital encephalocele (HP:0002085)1.89408081
70Cupped ear (HP:0000378)1.88970994
71Absent rod-and cone-mediated responses on ERG (HP:0007688)1.88785139
72Polydipsia (HP:0001959)1.88472004
73Abnormal drinking behavior (HP:0030082)1.88472004
74Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.87966550
75Abnormality of alanine metabolism (HP:0010916)1.87966550
76Hyperalaninemia (HP:0003348)1.87966550
77Thyroid-stimulating hormone excess (HP:0002925)1.87453490
78Patellar aplasia (HP:0006443)1.87077913
79Oligodactyly (hands) (HP:0001180)1.86258448
80Abnormality of lateral ventricle (HP:0030047)1.86222277
81Abnormality of chromosome stability (HP:0003220)1.84966067
82Chromsome breakage (HP:0040012)1.84281534
83Birth length less than 3rd percentile (HP:0003561)1.83281314
84Dandy-Walker malformation (HP:0001305)1.82724182
85Clumsiness (HP:0002312)1.82600598
86Dialeptic seizures (HP:0011146)1.81240510
87Clubbing of toes (HP:0100760)1.81065072
88Abnormality of the pons (HP:0007361)1.80414993
89Hypoplastic labia majora (HP:0000059)1.80125284
90Pendular nystagmus (HP:0012043)1.80096650
91Abnormality of the ileum (HP:0001549)1.79972947
92Abnormal rod and cone electroretinograms (HP:0008323)1.78779677
93Pachygyria (HP:0001302)1.77977217
94Hypoplasia of the pons (HP:0012110)1.77382071
95Atonic seizures (HP:0010819)1.76766046
96Prominent nasal bridge (HP:0000426)1.76519087
97Bony spicule pigmentary retinopathy (HP:0007737)1.75823538
98Chromosomal breakage induced by crosslinking agents (HP:0003221)1.75738909
99Hypoplastic iliac wings (HP:0002866)1.74320906
100Small hand (HP:0200055)1.73328435

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.07669611
2BMPR1B3.18365399
3ACVR1B3.17222750
4LATS13.15047009
5NUAK12.42718858
6CASK2.32529403
7PINK12.29600172
8TAOK32.20469667
9WNK32.17065086
10ZAK2.12982676
11STK38L2.10327659
12MAP3K42.05224683
13TNIK1.98681833
14MKNK21.87992712
15MAP4K21.79046259
16AKT31.71474858
17INSRR1.59320711
18MAPK131.54381257
19ADRBK21.52692231
20BCR1.45992548
21GRK11.41496993
22MKNK11.39189786
23NLK1.28688932
24TLK11.28316395
25TRIM281.25791767
26WNK41.23073955
27PNCK1.22928922
28STK391.20052571
29BRSK21.18500864
30OXSR11.15556589
31TGFBR11.12419853
32CSNK1A1L1.12183527
33MARK11.09706891
34MAP2K71.09584548
35EIF2AK31.05115652
36FGFR21.04981031
37CAMKK21.01518314
38CDK30.96145939
39PLK40.94501301
40PAK30.92978856
41OBSCN0.91857589
42CSNK1G10.91047997
43DYRK20.90427530
44CAMK1G0.84828793
45ADRBK10.84203201
46NTRK30.83079111
47TEC0.81751320
48ERBB30.80250440
49STK30.79326222
50CDC70.77397178
51MAPK150.75334949
52CSNK1G30.72594660
53SGK20.72323082
54CAMK1D0.71382826
55PRKCE0.70590693
56CSNK1G20.69014587
57TXK0.68745065
58NME10.66370518
59MELK0.65299384
60NEK20.64494639
61PRKAA20.62757272
62VRK10.62063450
63ATM0.61841291
64PIK3CA0.59737662
65ATR0.57083839
66PRKCG0.55545293
67DYRK30.53812717
68DAPK20.53685407
69MST40.52871907
70EPHA40.52173255
71WEE10.52023664
72FLT30.49797045
73PLK20.49661483
74STK380.47723694
75RPS6KA50.47311753
76SRPK10.46420063
77MARK30.44420173
78CAMK2A0.44128438
79SGK4940.43466395
80SGK2230.43466395
81PLK10.41495697
82PRKAA10.40287578
83STK110.39090840
84BRD40.38955737
85CSNK1D0.38013043
86MAP3K70.37571898
87TAF10.36864426
88PRKACB0.35612504
89NTRK20.35513349
90EPHA30.35316928
91MAPKAPK50.35173454
92PTK2B0.35093072
93PLK30.33849533
94TRPM70.33312143
95CSNK1A10.33075743
96CHEK20.33060712
97WNK10.32326707
98CSNK1E0.32148717
99SGK10.30891658
100PRKG10.30509183

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.74739577
2Butanoate metabolism_Homo sapiens_hsa006502.72115296
3Fanconi anemia pathway_Homo sapiens_hsa034602.36547424
4Nicotine addiction_Homo sapiens_hsa050332.34504756
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.32676229
6Homologous recombination_Homo sapiens_hsa034402.31111807
7Nitrogen metabolism_Homo sapiens_hsa009102.25195715
8Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.25068013
9Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.16991909
10Taste transduction_Homo sapiens_hsa047422.11404396
11Linoleic acid metabolism_Homo sapiens_hsa005912.10422141
12Propanoate metabolism_Homo sapiens_hsa006402.08755152
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.01436281
14Basal transcription factors_Homo sapiens_hsa030221.98366158
15Non-homologous end-joining_Homo sapiens_hsa034501.79099666
16Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.77573447
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.74079262
18Tryptophan metabolism_Homo sapiens_hsa003801.73883227
19Maturity onset diabetes of the young_Homo sapiens_hsa049501.71808139
20Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.69571643
21Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.62912652
22Olfactory transduction_Homo sapiens_hsa047401.62693336
23ABC transporters_Homo sapiens_hsa020101.62233805
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.55950817
25Caffeine metabolism_Homo sapiens_hsa002321.53973037
26Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.49451449
27Regulation of autophagy_Homo sapiens_hsa041401.48091877
28Steroid hormone biosynthesis_Homo sapiens_hsa001401.46998968
29Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.46294527
30Protein export_Homo sapiens_hsa030601.43030111
31Circadian rhythm_Homo sapiens_hsa047101.42677107
32RNA degradation_Homo sapiens_hsa030181.39845689
33Chemical carcinogenesis_Homo sapiens_hsa052041.39715572
34Ether lipid metabolism_Homo sapiens_hsa005651.37721489
35Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.36237261
36Selenocompound metabolism_Homo sapiens_hsa004501.36186297
37One carbon pool by folate_Homo sapiens_hsa006701.34172173
38RNA polymerase_Homo sapiens_hsa030201.26344763
39Lysine degradation_Homo sapiens_hsa003101.20517093
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.13623342
41Retinol metabolism_Homo sapiens_hsa008301.12218740
42Primary bile acid biosynthesis_Homo sapiens_hsa001201.11315146
43Morphine addiction_Homo sapiens_hsa050321.10852595
44Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.09398356
45GABAergic synapse_Homo sapiens_hsa047271.06307603
46Peroxisome_Homo sapiens_hsa041461.06261634
47Dorso-ventral axis formation_Homo sapiens_hsa043201.05577206
48Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.05180732
49Glutamatergic synapse_Homo sapiens_hsa047241.03394494
50Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.03268525
51Serotonergic synapse_Homo sapiens_hsa047260.97110375
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.96902288
53beta-Alanine metabolism_Homo sapiens_hsa004100.95538747
54Circadian entrainment_Homo sapiens_hsa047130.90892467
55Vitamin digestion and absorption_Homo sapiens_hsa049770.88478078
56Glycerolipid metabolism_Homo sapiens_hsa005610.84702379
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.84091851
58Calcium signaling pathway_Homo sapiens_hsa040200.81682409
59Histidine metabolism_Homo sapiens_hsa003400.81647351
60Insulin secretion_Homo sapiens_hsa049110.77651052
61Fatty acid degradation_Homo sapiens_hsa000710.72082178
62Ovarian steroidogenesis_Homo sapiens_hsa049130.72081889
63Hedgehog signaling pathway_Homo sapiens_hsa043400.71738246
64Purine metabolism_Homo sapiens_hsa002300.71017455
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.70001271
66Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.69869175
67Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68392434
68Fatty acid biosynthesis_Homo sapiens_hsa000610.66196974
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63543581
70Salivary secretion_Homo sapiens_hsa049700.62226276
71Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61493497
72Arachidonic acid metabolism_Homo sapiens_hsa005900.60827514
73Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59870040
74Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.57170209
75Fatty acid metabolism_Homo sapiens_hsa012120.56961672
76Fat digestion and absorption_Homo sapiens_hsa049750.56059566
77Oxidative phosphorylation_Homo sapiens_hsa001900.55173423
78RNA transport_Homo sapiens_hsa030130.55166619
79Nucleotide excision repair_Homo sapiens_hsa034200.54163084
80Dopaminergic synapse_Homo sapiens_hsa047280.53051479
81Metabolic pathways_Homo sapiens_hsa011000.52979025
82TGF-beta signaling pathway_Homo sapiens_hsa043500.52951107
83Huntingtons disease_Homo sapiens_hsa050160.52385134
84Basal cell carcinoma_Homo sapiens_hsa052170.47310731
85Vascular smooth muscle contraction_Homo sapiens_hsa042700.44755739
86Sphingolipid metabolism_Homo sapiens_hsa006000.44625103
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.43699260
88cAMP signaling pathway_Homo sapiens_hsa040240.42717324
89Steroid biosynthesis_Homo sapiens_hsa001000.42482130
90Renin secretion_Homo sapiens_hsa049240.41867802
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41566474
92Parkinsons disease_Homo sapiens_hsa050120.37645661
93Oxytocin signaling pathway_Homo sapiens_hsa049210.36585131
94Mismatch repair_Homo sapiens_hsa034300.36270159
95Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.34283492
96Amphetamine addiction_Homo sapiens_hsa050310.32627778
97Type II diabetes mellitus_Homo sapiens_hsa049300.30390989
98cGMP-PKG signaling pathway_Homo sapiens_hsa040220.29739917
99Long-term depression_Homo sapiens_hsa047300.29565828
100N-Glycan biosynthesis_Homo sapiens_hsa005100.28622606

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