CHMP1B2P

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1indole-containing compound catabolic process (GO:0042436)4.22385602
2indolalkylamine catabolic process (GO:0046218)4.22385602
3tryptophan catabolic process (GO:0006569)4.22385602
4signal peptide processing (GO:0006465)4.20553376
5detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.10492638
6photoreceptor cell maintenance (GO:0045494)4.05787466
7indolalkylamine metabolic process (GO:0006586)4.00394196
8detection of light stimulus involved in sensory perception (GO:0050962)3.98807940
9detection of light stimulus involved in visual perception (GO:0050908)3.98807940
10piRNA metabolic process (GO:0034587)3.91449666
11DNA double-strand break processing (GO:0000729)3.90552557
12neural tube formation (GO:0001841)3.79246879
13kynurenine metabolic process (GO:0070189)3.63866804
14regulation of meiosis I (GO:0060631)3.54575309
15tryptophan metabolic process (GO:0006568)3.53705298
16L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.40060511
17DNA methylation involved in gamete generation (GO:0043046)3.30712977
18replication fork processing (GO:0031297)3.29137454
19protein K11-linked deubiquitination (GO:0035871)3.27768204
20cilium or flagellum-dependent cell motility (GO:0001539)3.26992045
21reflex (GO:0060004)3.24374638
22protein prenylation (GO:0018342)3.23623787
23prenylation (GO:0097354)3.23623787
24respiratory chain complex IV assembly (GO:0008535)3.19539472
25meiotic chromosome segregation (GO:0045132)3.17903693
26establishment of protein localization to Golgi (GO:0072600)3.14713450
27indole-containing compound metabolic process (GO:0042430)3.10798624
28synapsis (GO:0007129)3.07658162
29cellular ketone body metabolic process (GO:0046950)3.07130623
30resolution of meiotic recombination intermediates (GO:0000712)3.05448815
31ketone body metabolic process (GO:1902224)3.05317377
32reciprocal meiotic recombination (GO:0007131)3.04118661
33reciprocal DNA recombination (GO:0035825)3.04118661
34cellular biogenic amine catabolic process (GO:0042402)3.01412469
35amine catabolic process (GO:0009310)3.01412469
36fucose catabolic process (GO:0019317)3.00266631
37L-fucose metabolic process (GO:0042354)3.00266631
38L-fucose catabolic process (GO:0042355)3.00266631
39amino acid salvage (GO:0043102)2.93075692
40L-methionine salvage (GO:0071267)2.93075692
41L-methionine biosynthetic process (GO:0071265)2.93075692
42platelet dense granule organization (GO:0060155)2.90976816
43male meiosis (GO:0007140)2.90278517
44regulation of acrosome reaction (GO:0060046)2.90136533
45double-strand break repair via homologous recombination (GO:0000724)2.89975094
46auditory receptor cell stereocilium organization (GO:0060088)2.89747369
47recombinational repair (GO:0000725)2.87404245
48response to pheromone (GO:0019236)2.84939415
49axoneme assembly (GO:0035082)2.82541011
50UDP-N-acetylglucosamine metabolic process (GO:0006047)2.80974415
51dopamine transport (GO:0015872)2.80003965
52regulation of hippo signaling (GO:0035330)2.79323097
53tachykinin receptor signaling pathway (GO:0007217)2.78866252
54cytochrome complex assembly (GO:0017004)2.75921284
55behavioral response to nicotine (GO:0035095)2.73525489
56retinal cone cell development (GO:0046549)2.72760325
57benzene-containing compound metabolic process (GO:0042537)2.72296992
58water-soluble vitamin biosynthetic process (GO:0042364)2.70533344
59DNA deamination (GO:0045006)2.68192386
60aromatic amino acid family catabolic process (GO:0009074)2.65455670
61branched-chain amino acid catabolic process (GO:0009083)2.64358595
62methionine biosynthetic process (GO:0009086)2.64304033
63righting reflex (GO:0060013)2.62908107
64regulation of glucokinase activity (GO:0033131)2.60704248
65regulation of hexokinase activity (GO:1903299)2.60704248
66proline transport (GO:0015824)2.60600275
67behavioral response to ethanol (GO:0048149)2.60555252
68kidney morphogenesis (GO:0060993)2.59381486
69snRNA transcription (GO:0009301)2.58083959
70positive regulation of meiosis (GO:0045836)2.57059711
71protein complex biogenesis (GO:0070271)2.56942128
72centriole replication (GO:0007099)2.56121696
73serotonin metabolic process (GO:0042428)2.55511343
74intraciliary transport (GO:0042073)2.55362420
75inner ear receptor stereocilium organization (GO:0060122)2.55322596
76acrosome assembly (GO:0001675)2.55091241
77negative regulation of DNA-dependent DNA replication (GO:2000104)2.54074472
78cilium organization (GO:0044782)2.53187650
79thyroid hormone metabolic process (GO:0042403)2.51179533
80oxidative demethylation (GO:0070989)2.50071297
81protein targeting to Golgi (GO:0000042)2.48128805
82RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.46659362
83cilium assembly (GO:0042384)2.45983921
84aromatic amino acid family metabolic process (GO:0009072)2.44262220
85cilium morphogenesis (GO:0060271)2.43930988
86male meiosis I (GO:0007141)2.43103520
87regulation of sarcomere organization (GO:0060297)2.42990793
88RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.42000127
89tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.42000127
90cellular response to sterol (GO:0036315)2.41664620
91preassembly of GPI anchor in ER membrane (GO:0016254)2.41537778
92detection of mechanical stimulus involved in sensory perception (GO:0050974)2.41419756
93negative regulation of translation, ncRNA-mediated (GO:0040033)2.40908484
94regulation of translation, ncRNA-mediated (GO:0045974)2.40908484
95negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.40908484
96positive regulation of meiotic cell cycle (GO:0051446)2.39821864
97monoubiquitinated protein deubiquitination (GO:0035520)2.39187802
98regulation of gene silencing by RNA (GO:0060966)2.39175697
99regulation of posttranscriptional gene silencing (GO:0060147)2.39175697
100regulation of gene silencing by miRNA (GO:0060964)2.39175697

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.23460548
2VDR_22108803_ChIP-Seq_LS180_Human3.14725245
3ZNF274_21170338_ChIP-Seq_K562_Hela3.08438835
4POU3F2_20337985_ChIP-ChIP_501MEL_Human2.92099778
5IGF1R_20145208_ChIP-Seq_DFB_Human2.79562296
6SALL1_21062744_ChIP-ChIP_HESCs_Human2.68535262
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.65090965
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.61529101
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.53637191
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.52256081
11FUS_26573619_Chip-Seq_HEK293_Human2.37562811
12CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.33026502
13CTBP2_25329375_ChIP-Seq_LNCAP_Human2.30824083
14TAF15_26573619_Chip-Seq_HEK293_Human2.27857044
15P300_19829295_ChIP-Seq_ESCs_Human2.25051489
16EWS_26573619_Chip-Seq_HEK293_Human2.22613362
17PCGF2_27294783_Chip-Seq_ESCs_Mouse2.07549976
18AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.04425310
19ER_23166858_ChIP-Seq_MCF-7_Human1.90213147
20CTBP1_25329375_ChIP-Seq_LNCAP_Human1.87590099
21SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.87182460
22STAT3_23295773_ChIP-Seq_U87_Human1.77164881
23SMAD4_21799915_ChIP-Seq_A2780_Human1.74878847
24PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.73239239
25PIAS1_25552417_ChIP-Seq_VCAP_Human1.72621754
26E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.72472946
27UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.68131571
28BCAT_22108803_ChIP-Seq_LS180_Human1.67823654
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.64177467
30EZH2_27294783_Chip-Seq_NPCs_Mouse1.63970198
31IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.62403333
32CBP_20019798_ChIP-Seq_JUKART_Human1.62403333
33SUZ12_27294783_Chip-Seq_NPCs_Mouse1.62345405
34KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.61480817
35PCGF2_27294783_Chip-Seq_NPCs_Mouse1.57565749
36TCF4_23295773_ChIP-Seq_U87_Human1.54825066
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52697235
38SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.52395086
39FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.51581562
40NFE2_27457419_Chip-Seq_LIVER_Mouse1.51500962
41MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.49340744
42HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.48973881
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.47659698
44EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.45405488
45NANOG_19829295_ChIP-Seq_ESCs_Human1.44526176
46SOX2_19829295_ChIP-Seq_ESCs_Human1.44526176
47ELK1_19687146_ChIP-ChIP_HELA_Human1.44315789
48TCF4_22108803_ChIP-Seq_LS180_Human1.43595383
49HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.43506808
50SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.42347181
51AR_25329375_ChIP-Seq_VCAP_Human1.41090361
52KLF5_20875108_ChIP-Seq_MESCs_Mouse1.40599175
53TP53_22573176_ChIP-Seq_HFKS_Human1.38993775
54TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.37082443
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36659909
56NANOG_18555785_Chip-Seq_ESCs_Mouse1.35557816
57TOP2B_26459242_ChIP-Seq_MCF-7_Human1.34181544
58MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33055298
59NR3C1_21868756_ChIP-Seq_MCF10A_Human1.32633042
60GABP_17652178_ChIP-ChIP_JURKAT_Human1.31810660
61RUNX2_22187159_ChIP-Seq_PCA_Human1.31418699
62CDX2_22108803_ChIP-Seq_LS180_Human1.30982686
63CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.30377034
64CRX_20693478_ChIP-Seq_RETINA_Mouse1.30250173
65FOXA1_21572438_ChIP-Seq_LNCaP_Human1.28961404
66EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.28803538
67E2F1_18555785_Chip-Seq_ESCs_Mouse1.24845708
68SMAD4_21741376_ChIP-Seq_EPCs_Human1.24664132
69P53_22387025_ChIP-Seq_ESCs_Mouse1.22620556
70EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.21645573
71TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.19671617
72EST1_17652178_ChIP-ChIP_JURKAT_Human1.19343681
73STAT3_18555785_Chip-Seq_ESCs_Mouse1.18454200
74P300_18555785_Chip-Seq_ESCs_Mouse1.17396045
75TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17367078
76POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.17367078
77EGR1_23403033_ChIP-Seq_LIVER_Mouse1.16168316
78FOXA1_25329375_ChIP-Seq_VCAP_Human1.14187835
79FOXA1_27270436_Chip-Seq_PROSTATE_Human1.14187835
80OCT4_21477851_ChIP-Seq_ESCs_Mouse1.13930628
81EZH2_22144423_ChIP-Seq_EOC_Human1.13403218
82SUZ12_18555785_Chip-Seq_ESCs_Mouse1.13339626
83CMYC_18555785_Chip-Seq_ESCs_Mouse1.13170609
84FOXM1_26456572_ChIP-Seq_MCF-7_Human1.12948821
85GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.11238562
86TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11148615
87IRF1_19129219_ChIP-ChIP_H3396_Human1.11043866
88FLI1_21867929_ChIP-Seq_TH2_Mouse1.09411303
89MYC_18940864_ChIP-ChIP_HL60_Human1.08703733
90SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.08114221
91SOX2_18555785_Chip-Seq_ESCs_Mouse1.07829296
92PRDM14_20953172_ChIP-Seq_ESCs_Human1.07372055
93CDX2_19796622_ChIP-Seq_MESCs_Mouse1.06164541
94RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02235130
95OCT4_18555785_Chip-Seq_ESCs_Mouse1.01871075
96BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.01745142
97PADI4_21655091_ChIP-ChIP_MCF-7_Human1.00878911
98NMYC_18555785_Chip-Seq_ESCs_Mouse1.00567470
99RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.00015554
100AR_20517297_ChIP-Seq_VCAP_Human0.99809964

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation3.60374842
2MP0003195_calcinosis3.16196682
3MP0008057_abnormal_DNA_replication3.14734037
4MP0002102_abnormal_ear_morphology2.80689230
5MP0000372_irregular_coat_pigmentation2.60863213
6MP0005551_abnormal_eye_electrophysiolog2.49107757
7MP0000569_abnormal_digit_pigmentation2.24994397
8MP0004147_increased_porphyrin_level2.18305763
9MP0003718_maternal_effect2.12445711
10MP0003950_abnormal_plasma_membrane2.09203770
11MP0008058_abnormal_DNA_repair2.06460056
12MP0005645_abnormal_hypothalamus_physiol2.05153258
13MP0002736_abnormal_nociception_after1.99310300
14MP0005646_abnormal_pituitary_gland1.96817778
15MP0006276_abnormal_autonomic_nervous1.83860901
16MP0005253_abnormal_eye_physiology1.74067559
17MP0009046_muscle_twitch1.73561850
18MP0000427_abnormal_hair_cycle1.72532443
19MP0002938_white_spotting1.72150504
20MP0002837_dystrophic_cardiac_calcinosis1.67350124
21MP0003646_muscle_fatigue1.64666224
22MP0001968_abnormal_touch/_nociception1.64461094
23MP0003787_abnormal_imprinting1.63554507
24MP0001764_abnormal_homeostasis1.60326684
25MP0006072_abnormal_retinal_apoptosis1.58949128
26MP0006292_abnormal_olfactory_placode1.58469536
27MP0004043_abnormal_pH_regulation1.56730489
28MP0001485_abnormal_pinna_reflex1.54170671
29MP0001984_abnormal_olfaction1.53242016
30MP0003806_abnormal_nucleotide_metabolis1.50574321
31MP0005410_abnormal_fertilization1.49746561
32MP0005075_abnormal_melanosome_morpholog1.48877586
33MP0008995_early_reproductive_senescence1.47244939
34MP0008872_abnormal_physiological_respon1.44977955
35MP0006054_spinal_hemorrhage1.38739047
36MP0002876_abnormal_thyroid_physiology1.38642696
37MP0001529_abnormal_vocalization1.36338370
38MP0001501_abnormal_sleep_pattern1.36198150
39MP0003136_yellow_coat_color1.35730762
40MP0002254_reproductive_system_inflammat1.30016122
41MP0004133_heterotaxia1.27521788
42MP0004215_abnormal_myocardial_fiber1.27166596
43MP0005174_abnormal_tail_pigmentation1.25730188
44MP0000631_abnormal_neuroendocrine_gland1.24998766
45MP0002160_abnormal_reproductive_system1.24952381
46MP0009745_abnormal_behavioral_response1.23510335
47MP0003698_abnormal_male_reproductive1.23023705
48MP0001929_abnormal_gametogenesis1.22791557
49MP0009697_abnormal_copulation1.20992950
50MP0003890_abnormal_embryonic-extraembry1.19102895
51MP0010094_abnormal_chromosome_stability1.18510367
52MP0004142_abnormal_muscle_tone1.18393957
53MP0008875_abnormal_xenobiotic_pharmacok1.15759288
54MP0005395_other_phenotype1.15026359
55MP0002138_abnormal_hepatobiliary_system1.14823235
56MP0010386_abnormal_urinary_bladder1.14325119
57MP0003786_premature_aging1.13045607
58MP0005379_endocrine/exocrine_gland_phen1.12924776
59MP0006036_abnormal_mitochondrial_physio1.12330963
60MP0000383_abnormal_hair_follicle1.11872354
61MP0002638_abnormal_pupillary_reflex1.09672953
62MP0003252_abnormal_bile_duct1.09349243
63MP0003119_abnormal_digestive_system1.09080739
64MP0000653_abnormal_sex_gland1.08528258
65MP0005266_abnormal_metabolism1.06999046
66MP0003943_abnormal_hepatobiliary_system1.06884124
67MP0001486_abnormal_startle_reflex1.05763122
68MP0005389_reproductive_system_phenotype1.03400065
69MP0005084_abnormal_gallbladder_morpholo1.02659272
70MP0005647_abnormal_sex_gland1.02168385
71MP0002090_abnormal_vision1.01210116
72MP0005332_abnormal_amino_acid1.00254444
73MP0002210_abnormal_sex_determination0.99278873
74MP0001145_abnormal_male_reproductive0.99273533
75MP0002234_abnormal_pharynx_morphology0.97170365
76MP0005367_renal/urinary_system_phenotyp0.96305695
77MP0000516_abnormal_urinary_system0.96305695
78MP0003937_abnormal_limbs/digits/tail_de0.93823932
79MP0000639_abnormal_adrenal_gland0.90907223
80MP0005386_behavior/neurological_phenoty0.90712254
81MP0004924_abnormal_behavior0.90712254
82MP0004085_abnormal_heartbeat0.90533103
83MP0005220_abnormal_exocrine_pancreas0.90015447
84MP0002557_abnormal_social/conspecific_i0.89125947
85MP0002928_abnormal_bile_duct0.87255680
86MP0004145_abnormal_muscle_electrophysio0.87197278
87MP0003880_abnormal_central_pattern0.85916998
88MP0002272_abnormal_nervous_system0.85610944
89MP0003011_delayed_dark_adaptation0.83905465
90MP0000538_abnormal_urinary_bladder0.83760371
91MP0003941_abnormal_skin_development0.83533161
92MP0006035_abnormal_mitochondrial_morpho0.82803278
93MP0000647_abnormal_sebaceous_gland0.82524027
94MP0002163_abnormal_gland_morphology0.82154091
95MP0002735_abnormal_chemical_nociception0.81956877
96MP0004019_abnormal_vitamin_homeostasis0.81799433
97MP0005085_abnormal_gallbladder_physiolo0.81148439
98MP0003137_abnormal_impulse_conducting0.80675955
99MP0000230_abnormal_systemic_arterial0.80483695
100MP0001119_abnormal_female_reproductive0.80075829

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.88350585
2True hermaphroditism (HP:0010459)3.59189012
3Pancreatic fibrosis (HP:0100732)3.57200125
4Attenuation of retinal blood vessels (HP:0007843)3.49617637
5Congenital stationary night blindness (HP:0007642)3.45330418
6Abnormality of the renal cortex (HP:0011035)3.18773327
7Medial flaring of the eyebrow (HP:0010747)3.14365809
8Gaze-evoked nystagmus (HP:0000640)3.06049857
9Aplasia/Hypoplasia of the fovea (HP:0008060)3.01530452
10Hypoplasia of the fovea (HP:0007750)3.01530452
11Central scotoma (HP:0000603)2.97982049
12Renal cortical cysts (HP:0000803)2.95216116
13Abnormality of midbrain morphology (HP:0002418)2.94053152
14Molar tooth sign on MRI (HP:0002419)2.94053152
15Aplasia/Hypoplasia of the tibia (HP:0005772)2.83919189
16Nephronophthisis (HP:0000090)2.82657516
17Chronic hepatic failure (HP:0100626)2.79686897
18Intestinal atresia (HP:0011100)2.66105769
19Abnormality of the fovea (HP:0000493)2.63893353
20Abnormality of the renal medulla (HP:0100957)2.63754848
21Abolished electroretinogram (ERG) (HP:0000550)2.62948456
22Abnormal rod and cone electroretinograms (HP:0008323)2.58388848
23Nephrogenic diabetes insipidus (HP:0009806)2.57774088
24Abnormality of macular pigmentation (HP:0008002)2.54079351
25Bony spicule pigmentary retinopathy (HP:0007737)2.51984552
26Congenital primary aphakia (HP:0007707)2.51003365
27Tubulointerstitial nephritis (HP:0001970)2.47897481
28Febrile seizures (HP:0002373)2.43226996
29Gait imbalance (HP:0002141)2.41442849
30Hyperventilation (HP:0002883)2.39344341
31Cystic liver disease (HP:0006706)2.39301973
32Congenital sensorineural hearing impairment (HP:0008527)2.38550332
33Progressive cerebellar ataxia (HP:0002073)2.35999888
34Hypothermia (HP:0002045)2.34886607
35Genital tract atresia (HP:0001827)2.31546733
36Progressive inability to walk (HP:0002505)2.26277226
37Constricted visual fields (HP:0001133)2.25596065
38Hyperglycinuria (HP:0003108)2.22276987
39Vaginal atresia (HP:0000148)2.18583812
40Absent rod-and cone-mediated responses on ERG (HP:0007688)2.17564303
41Decreased central vision (HP:0007663)2.15369144
42Hypoglycemic coma (HP:0001325)2.13244373
43Pancreatic islet-cell hyperplasia (HP:0004510)2.12514019
44Inability to walk (HP:0002540)2.11800059
45Colon cancer (HP:0003003)2.11053860
46Neoplasm of the adrenal cortex (HP:0100641)2.10788529
47Scotoma (HP:0000575)2.10230650
48Volvulus (HP:0002580)2.10146128
49Genetic anticipation (HP:0003743)2.09838243
50Methylmalonic aciduria (HP:0012120)2.09144395
51Hyperalaninemia (HP:0003348)2.08933156
52Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.08933156
53Abnormality of alanine metabolism (HP:0010916)2.08933156
54Aplasia/Hypoplasia of the tongue (HP:0010295)2.08165838
55Type II lissencephaly (HP:0007260)2.07159065
56Cerebellar dysplasia (HP:0007033)2.06789985
57Male pseudohermaphroditism (HP:0000037)2.06240036
58Abnormality of chromosome stability (HP:0003220)2.04475166
59Hyperglycinemia (HP:0002154)2.03951679
60Severe visual impairment (HP:0001141)2.03926648
61Increased CSF lactate (HP:0002490)2.03851915
62Abnormality of the labia minora (HP:0012880)2.02475186
63Ketoacidosis (HP:0001993)2.00593621
64Small hand (HP:0200055)1.99461475
65Congenital hepatic fibrosis (HP:0002612)1.99399523
66Proximal tubulopathy (HP:0000114)1.99009161
67Astigmatism (HP:0000483)1.98904928
68Methylmalonic acidemia (HP:0002912)1.98764468
69Acute encephalopathy (HP:0006846)1.98696935
70Sclerocornea (HP:0000647)1.97546233
71Increased corneal curvature (HP:0100692)1.96305554
72Keratoconus (HP:0000563)1.96305554
73Progressive macrocephaly (HP:0004481)1.94299915
74Abnormality of serine family amino acid metabolism (HP:0010894)1.93791430
75Abnormality of glycine metabolism (HP:0010895)1.93791430
76Acute necrotizing encephalopathy (HP:0006965)1.93349454
77Sloping forehead (HP:0000340)1.91181691
78Facial diplegia (HP:0001349)1.90526091
79Large for gestational age (HP:0001520)1.90269447
80Poor coordination (HP:0002370)1.88262134
81Abnormality of the pons (HP:0007361)1.87970672
82Short tibia (HP:0005736)1.87742070
83Furrowed tongue (HP:0000221)1.87709866
84Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.87364899
85Aplasia/Hypoplasia of the uvula (HP:0010293)1.87027139
86Absent speech (HP:0001344)1.85122724
87Anencephaly (HP:0002323)1.84149018
88Hypoplasia of the pons (HP:0012110)1.82139345
89Aplasia/Hypoplasia of the macula (HP:0008059)1.81916123
90Lissencephaly (HP:0001339)1.79532274
91Decreased electroretinogram (ERG) amplitude (HP:0000654)1.79154832
92Tubular atrophy (HP:0000092)1.77644020
93Postaxial foot polydactyly (HP:0001830)1.77243171
94Hepatic necrosis (HP:0002605)1.76896812
95Bifid tongue (HP:0010297)1.75942301
96Glioma (HP:0009733)1.74010656
97Enlarged kidneys (HP:0000105)1.73827160
98Retinitis pigmentosa (HP:0000510)1.72821364
99Albinism (HP:0001022)1.72430696
100Optic nerve hypoplasia (HP:0000609)1.71373676

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.41495707
2ACVR1B3.23589418
3BMPR1B3.12844014
4MAP4K22.97408426
5TRIM282.71696487
6NUAK12.60830383
7EIF2AK32.38068786
8WNK32.34212356
9INSRR2.31270284
10ADRBK21.97811558
11STK38L1.87526598
12GRK11.86884910
13MST41.73437439
14TNIK1.73161018
15BRSK21.68553977
16ZAK1.64878529
17BCR1.64224297
18PINK11.62725856
19CASK1.50545169
20MKNK21.48132901
21OXSR11.41019590
22TAOK31.34603699
23MKNK11.30524062
24MAP3K41.28218142
25PIK3CG1.23976847
26PLK41.19373362
27STK31.17354874
28PDK21.12805021
29CSNK1G11.06477476
30AKT31.05695270
31PBK1.03563915
32STK391.02107193
33TGFBR10.97868011
34FER0.97425131
35MAPK130.96661845
36SIK30.94959695
37TEC0.94944373
38PTK2B0.94491821
39PAK30.93890122
40ERBB30.91986489
41PNCK0.91196512
42PLK30.88811536
43PLK20.88655687
44DAPK20.86839829
45CSNK1G30.86299870
46CSNK1G20.84270241
47PRKCE0.81186581
48WEE10.80984144
49ADRBK10.79805024
50MUSK0.79744312
51CSNK1A1L0.76350654
52EIF2AK10.75616047
53NEK10.71137749
54FLT30.67034821
55NTRK30.66659342
56PRKCG0.64711721
57NLK0.61307020
58PLK10.61247706
59FGFR20.59189698
60TAF10.55696343
61VRK20.54872579
62EIF2AK20.54480275
63TLK10.53419456
64VRK10.51872678
65TIE10.50675901
66MARK30.49665275
67BMPR20.49619055
68TNK20.48774314
69TRPM70.48680567
70EPHA40.48372355
71MAP2K70.48347076
72ATM0.47971476
73MAPKAPK50.47589104
74TTK0.45929912
75OBSCN0.45252240
76PRKAA20.45130479
77ATR0.41504632
78CAMK2A0.41278520
79LATS10.41214765
80BUB10.39007263
81STK160.38523420
82STK240.38437302
83BCKDK0.37552391
84TXK0.37002077
85CHEK20.35635386
86ERBB40.34604213
87MELK0.34533261
88PRKACA0.34164326
89CSNK1D0.33280393
90MAP3K120.31860769
91CSNK1A10.31278459
92NME10.30770593
93STK380.30311552
94STK110.30044989
95PKN10.29063588
96PRKACB0.28896365
97PRKAA10.27647770
98RPS6KA50.27396757
99GRK50.27293646
100PIK3CA0.27200198

Predicted pathways (KEGG)

RankGene SetZ-score
1Butanoate metabolism_Homo sapiens_hsa006502.78203918
2Phototransduction_Homo sapiens_hsa047442.34753996
3Homologous recombination_Homo sapiens_hsa034402.34501489
4Propanoate metabolism_Homo sapiens_hsa006402.32734901
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.26144083
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.25281646
7Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.23018583
8Protein export_Homo sapiens_hsa030602.18950421
9Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.10485276
10Selenocompound metabolism_Homo sapiens_hsa004502.09680354
11Nitrogen metabolism_Homo sapiens_hsa009102.06825576
12Primary bile acid biosynthesis_Homo sapiens_hsa001202.03250548
13Tryptophan metabolism_Homo sapiens_hsa003802.03143329
14Maturity onset diabetes of the young_Homo sapiens_hsa049501.97580680
15Basal transcription factors_Homo sapiens_hsa030221.93259154
16Linoleic acid metabolism_Homo sapiens_hsa005911.88772564
17Fanconi anemia pathway_Homo sapiens_hsa034601.83737601
18Non-homologous end-joining_Homo sapiens_hsa034501.81004332
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.79299940
20Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.75936662
21Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.68120869
22Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.60637281
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.60220866
24Steroid hormone biosynthesis_Homo sapiens_hsa001401.58216542
25Olfactory transduction_Homo sapiens_hsa047401.57704372
26ABC transporters_Homo sapiens_hsa020101.57489531
27Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.44279060
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.42627314
29RNA polymerase_Homo sapiens_hsa030201.40004473
30beta-Alanine metabolism_Homo sapiens_hsa004101.35694341
31Retinol metabolism_Homo sapiens_hsa008301.35499314
32Ether lipid metabolism_Homo sapiens_hsa005651.33838468
33Peroxisome_Homo sapiens_hsa041461.30478500
34Caffeine metabolism_Homo sapiens_hsa002321.27098533
35Chemical carcinogenesis_Homo sapiens_hsa052041.26858682
36RNA degradation_Homo sapiens_hsa030181.25952020
37Nicotine addiction_Homo sapiens_hsa050331.25737935
38Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.23767684
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.23197675
40One carbon pool by folate_Homo sapiens_hsa006701.19203262
41Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.18776293
42Regulation of autophagy_Homo sapiens_hsa041401.15728027
43Taste transduction_Homo sapiens_hsa047421.14554635
44Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.11530813
45Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.09707037
46Fatty acid elongation_Homo sapiens_hsa000621.05583786
47Proteasome_Homo sapiens_hsa030501.02332119
48Circadian rhythm_Homo sapiens_hsa047100.98757085
49Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.97677113
50Fatty acid degradation_Homo sapiens_hsa000710.97607251
51Cysteine and methionine metabolism_Homo sapiens_hsa002700.97157651
52Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.95768807
53Arachidonic acid metabolism_Homo sapiens_hsa005900.94158066
54Serotonergic synapse_Homo sapiens_hsa047260.93953611
55Purine metabolism_Homo sapiens_hsa002300.92007161
56Oxidative phosphorylation_Homo sapiens_hsa001900.91367075
57Fatty acid metabolism_Homo sapiens_hsa012120.87241232
58Glutathione metabolism_Homo sapiens_hsa004800.83212399
59Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.77913279
60Pentose and glucuronate interconversions_Homo sapiens_hsa000400.77671808
61Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.77480641
62Morphine addiction_Homo sapiens_hsa050320.77223063
63Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.75804849
64Metabolic pathways_Homo sapiens_hsa011000.75488308
65Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74837271
66Insulin secretion_Homo sapiens_hsa049110.74659656
67SNARE interactions in vesicular transport_Homo sapiens_hsa041300.73844825
68Histidine metabolism_Homo sapiens_hsa003400.71441785
69RNA transport_Homo sapiens_hsa030130.71092535
70Parkinsons disease_Homo sapiens_hsa050120.69657282
71Salivary secretion_Homo sapiens_hsa049700.69195404
72Sulfur metabolism_Homo sapiens_hsa009200.68094446
73Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.67915596
74Nucleotide excision repair_Homo sapiens_hsa034200.67686530
75GABAergic synapse_Homo sapiens_hsa047270.67012050
76Mismatch repair_Homo sapiens_hsa034300.65512664
77Huntingtons disease_Homo sapiens_hsa050160.64670694
78Glycerolipid metabolism_Homo sapiens_hsa005610.64381503
79Ovarian steroidogenesis_Homo sapiens_hsa049130.63355880
80Circadian entrainment_Homo sapiens_hsa047130.62849249
81Fat digestion and absorption_Homo sapiens_hsa049750.62753832
82Calcium signaling pathway_Homo sapiens_hsa040200.61464783
83Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.61139371
84Lysine degradation_Homo sapiens_hsa003100.59477585
85TGF-beta signaling pathway_Homo sapiens_hsa043500.57484079
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.57188443
87Vitamin digestion and absorption_Homo sapiens_hsa049770.56483591
88Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.56243557
89Sphingolipid metabolism_Homo sapiens_hsa006000.55590569
90Vascular smooth muscle contraction_Homo sapiens_hsa042700.55447043
91Steroid biosynthesis_Homo sapiens_hsa001000.55035340
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.52173000
93Vitamin B6 metabolism_Homo sapiens_hsa007500.52123240
94Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51910078
95Glutamatergic synapse_Homo sapiens_hsa047240.47190705
96Fatty acid biosynthesis_Homo sapiens_hsa000610.43439532
97Mineral absorption_Homo sapiens_hsa049780.41508651
98Arginine and proline metabolism_Homo sapiens_hsa003300.40830666
99Long-term depression_Homo sapiens_hsa047300.40645452
100Pyruvate metabolism_Homo sapiens_hsa006200.40234221

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