RAB5CP1

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
1purine deoxyribonucleotide catabolic process (GO:0009155)5.14927302
2deoxyribonucleoside monophosphate metabolic process (GO:0009162)5.14583716
3respiratory chain complex IV assembly (GO:0008535)5.14332498
4response to oxygen radical (GO:0000305)4.68060651
5nucleobase biosynthetic process (GO:0046112)4.56739052
6purine nucleobase biosynthetic process (GO:0009113)4.49867377
7DNA strand elongation involved in DNA replication (GO:0006271)4.44448935
8GMP metabolic process (GO:0046037)4.36542281
9protein complex biogenesis (GO:0070271)4.31802471
10deoxyribonucleotide catabolic process (GO:0009264)4.30428449
11negative regulation of phosphoprotein phosphatase activity (GO:0032515)4.28849282
12cytochrome complex assembly (GO:0017004)4.27136075
13adenosine metabolic process (GO:0046085)4.25449694
14response to folic acid (GO:0051593)4.14358922
15mitochondrial respiratory chain complex I assembly (GO:0032981)4.12148776
16NADH dehydrogenase complex assembly (GO:0010257)4.12148776
17mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.12148776
18DNA strand elongation (GO:0022616)4.05802446
19deoxyribose phosphate catabolic process (GO:0046386)4.04862053
20proteasome assembly (GO:0043248)4.00220143
21mitochondrial respiratory chain complex assembly (GO:0033108)3.97338968
22establishment of viral latency (GO:0019043)3.87787972
23base-excision repair, AP site formation (GO:0006285)3.79494907
24removal of superoxide radicals (GO:0019430)3.78936761
25cellular response to superoxide (GO:0071451)3.78936761
26cellular response to oxygen radical (GO:0071450)3.78936761
27response to superoxide (GO:0000303)3.70818910
28DNA integration (GO:0015074)3.68091226
29mannosylation (GO:0097502)3.67842428
30negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.67691812
31adaptation of signaling pathway (GO:0023058)3.64905526
32nucleotide-excision repair, DNA gap filling (GO:0006297)3.64323399
33telomere maintenance via semi-conservative replication (GO:0032201)3.60847807
34regulation of cellular amino acid metabolic process (GO:0006521)3.60016388
35mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.45741993
36positive regulation of protein homooligomerization (GO:0032464)3.37145312
37purine-containing compound salvage (GO:0043101)3.35914225
38positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.31572263
39DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.27430052
40purine deoxyribonucleotide metabolic process (GO:0009151)3.27422228
41regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.27085363
42signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.26933118
43signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.26933118
44signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.26933118
45deoxyribose phosphate biosynthetic process (GO:0046385)3.24409856
462-deoxyribonucleotide biosynthetic process (GO:0009265)3.24409856
47somatic hypermutation of immunoglobulin genes (GO:0016446)3.21981626
48somatic diversification of immune receptors via somatic mutation (GO:0002566)3.21981626
49intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.21298250
50signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.21298250
51telomere maintenance via recombination (GO:0000722)3.18686725
52signal transduction involved in DNA integrity checkpoint (GO:0072401)3.18368294
53signal transduction involved in DNA damage checkpoint (GO:0072422)3.18368294
54negative regulation of ligase activity (GO:0051352)3.17857376
55negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.17857376
56negative regulation of multicellular organism growth (GO:0040015)3.12679913
57signal transduction involved in cell cycle checkpoint (GO:0072395)3.12008358
58mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.11981069
59cellular ketone body metabolic process (GO:0046950)3.09739412
60anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.08428807
61water-soluble vitamin biosynthetic process (GO:0042364)3.07708107
62tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.01256093
63RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.01256093
64deoxyribonucleotide metabolic process (GO:0009262)3.01093846
65flavonoid metabolic process (GO:0009812)2.96959419
66regulation of female receptivity (GO:0045924)2.96785637
67GPI anchor biosynthetic process (GO:0006506)2.96201421
68RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.94798124
69translesion synthesis (GO:0019985)2.94446910
70GPI anchor metabolic process (GO:0006505)2.94216332
71pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.94166369
72antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.94162082
73oxidative demethylation (GO:0070989)2.92407386
74nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.90999058
75respiratory electron transport chain (GO:0022904)2.90312502
76deoxyribose phosphate metabolic process (GO:0019692)2.90288061
77estrogen biosynthetic process (GO:0006703)2.89678828
78meiotic chromosome segregation (GO:0045132)2.89548048
79mismatch repair (GO:0006298)2.88724393
80phosphatidylglycerol biosynthetic process (GO:0006655)2.87779941
81non-recombinational repair (GO:0000726)2.87040942
82double-strand break repair via nonhomologous end joining (GO:0006303)2.87040942
83mitotic recombination (GO:0006312)2.86100496
842-deoxyribonucleotide metabolic process (GO:0009394)2.86007846
85DNA deamination (GO:0045006)2.85205811
86DNA replication initiation (GO:0006270)2.84453480
87protein import into peroxisome matrix (GO:0016558)2.81734740
88DNA ligation (GO:0006266)2.81231500
89purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.80987273
90IMP biosynthetic process (GO:0006188)2.80829993
91electron transport chain (GO:0022900)2.80717937
92postreplication repair (GO:0006301)2.79006346
93energy coupled proton transport, down electrochemical gradient (GO:0015985)2.78942073
94ATP synthesis coupled proton transport (GO:0015986)2.78942073
95quinone biosynthetic process (GO:1901663)2.78040880
96chaperone-mediated protein transport (GO:0072321)2.77781359
97purine nucleotide salvage (GO:0032261)2.76106545
98DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.75391768
99deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.71594543
100antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.70528756

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.86222120
2GABP_17652178_ChIP-ChIP_JURKAT_Human3.75897341
3NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.31051769
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.19532185
5E2F4_17652178_ChIP-ChIP_JURKAT_Human2.97432533
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.79513246
7ETS1_20019798_ChIP-Seq_JURKAT_Human2.62813372
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.60802045
9VDR_23849224_ChIP-Seq_CD4+_Human2.56831884
10VDR_22108803_ChIP-Seq_LS180_Human2.55722564
11ELK1_19687146_ChIP-ChIP_HELA_Human2.49367840
12CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.41471221
13IRF8_22096565_ChIP-ChIP_GC-B_Human2.34773150
14FOXP3_21729870_ChIP-Seq_TREG_Human2.34537996
15FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.28254209
16HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.21008529
17SRF_21415370_ChIP-Seq_HL-1_Mouse2.19943948
18PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.18646817
19MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.12423344
20CREB1_15753290_ChIP-ChIP_HEK293T_Human2.08463080
21IGF1R_20145208_ChIP-Seq_DFB_Human2.00421345
22GATA1_22025678_ChIP-Seq_K562_Human2.00128758
23E2F7_22180533_ChIP-Seq_HELA_Human10.0853559
24HOXB4_20404135_ChIP-ChIP_EML_Mouse1.91677060
25CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.85254611
26SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.84706438
27CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.83011176
28E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.76659761
29THAP11_20581084_ChIP-Seq_MESCs_Mouse1.75097351
30ELF1_17652178_ChIP-ChIP_JURKAT_Human1.75003517
31TAF15_26573619_Chip-Seq_HEK293_Human1.74052497
32DCP1A_22483619_ChIP-Seq_HELA_Human1.56063623
33MYC_18940864_ChIP-ChIP_HL60_Human1.55907156
34MYC_18358816_ChIP-ChIP_MESCs_Mouse1.55812687
35PADI4_21655091_ChIP-ChIP_MCF-7_Human1.54208685
36SALL1_21062744_ChIP-ChIP_HESCs_Human1.51739110
37FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.49651345
38IRF1_19129219_ChIP-ChIP_H3396_Human1.49601973
39GABP_19822575_ChIP-Seq_HepG2_Human1.49558502
40ELK1_22589737_ChIP-Seq_MCF10A_Human1.47478901
41EWS_26573619_Chip-Seq_HEK293_Human1.47439922
42MYC_19079543_ChIP-ChIP_MESCs_Mouse1.46927297
43YY1_21170310_ChIP-Seq_MESCs_Mouse1.45936125
44FLI1_27457419_Chip-Seq_LIVER_Mouse1.44745264
45HTT_18923047_ChIP-ChIP_STHdh_Human1.42466005
46MYC_19030024_ChIP-ChIP_MESCs_Mouse1.40278769
47MYC_18555785_ChIP-Seq_MESCs_Mouse1.39824159
48E2F1_21310950_ChIP-Seq_MCF-7_Human1.37534738
49PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32274478
50EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.32201603
51IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.29979253
52EZH2_22144423_ChIP-Seq_EOC_Human1.29416475
53KDM5A_27292631_Chip-Seq_BREAST_Human1.29293237
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28689140
55ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.23318875
56HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.20453106
57ZNF274_21170338_ChIP-Seq_K562_Hela1.19748773
58TTF2_22483619_ChIP-Seq_HELA_Human1.19042617
59E2F1_18555785_ChIP-Seq_MESCs_Mouse1.18962651
60FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.14534645
61CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.13624935
62GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.08996907
63BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.06526120
64PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.05849996
65FOXA1_25329375_ChIP-Seq_VCAP_Human1.04755384
66FOXA1_27270436_Chip-Seq_PROSTATE_Human1.04755384
67NELFA_20434984_ChIP-Seq_ESCs_Mouse1.01566369
68CBP_20019798_ChIP-Seq_JUKART_Human1.01312161
69IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.01312161
70NCOR_22424771_ChIP-Seq_293T_Human1.00288018
71SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.99567943
72STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.98756192
73FUS_26573619_Chip-Seq_HEK293_Human0.98599483
74GBX2_23144817_ChIP-Seq_PC3_Human0.98388219
75VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.97033764
76BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.96625601
77AR_20517297_ChIP-Seq_VCAP_Human0.95375284
78EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.93882304
79SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.93697712
80SMAD_19615063_ChIP-ChIP_OVARY_Human0.92792047
81SALL4_22934838_ChIP-ChIP_CD34+_Human0.91893592
82FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.91882758
83E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.91113267
84HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.90946134
85PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.90346641
86MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.89416846
87ER_23166858_ChIP-Seq_MCF-7_Human0.89247188
88PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.88776733
89TP53_22573176_ChIP-Seq_HFKS_Human0.88694356
90YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.88636235
91CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.85818908
92FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85424105
93MYCN_18555785_ChIP-Seq_MESCs_Mouse0.81127530
94CEBPB_22108803_ChIP-Seq_LS180_Human0.79894943
95XRN2_22483619_ChIP-Seq_HELA_Human0.79817840
96PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.79135450
97GATA3_21867929_ChIP-Seq_TH1_Mouse0.78187142
98PCGF2_27294783_Chip-Seq_NPCs_Mouse0.77334677
99PCGF2_27294783_Chip-Seq_ESCs_Mouse0.76450610
100PHF8_20622853_ChIP-Seq_HELA_Human0.74896441

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002876_abnormal_thyroid_physiology3.94393807
2MP0009780_abnormal_chondrocyte_physiolo3.78069695
3MP0008058_abnormal_DNA_repair3.68133625
4MP0010094_abnormal_chromosome_stability3.53531938
5MP0003786_premature_aging3.35212736
6MP0005646_abnormal_pituitary_gland3.01637133
7MP0002163_abnormal_gland_morphology2.98425064
8MP0009697_abnormal_copulation2.93072106
9MP0000569_abnormal_digit_pigmentation2.84224705
10MP0005377_hearing/vestibular/ear_phenot2.77978201
11MP0003878_abnormal_ear_physiology2.77978201
12MP0008995_early_reproductive_senescence2.69778096
13MP0006035_abnormal_mitochondrial_morpho2.43185897
14MP0002837_dystrophic_cardiac_calcinosis2.23918473
15MP0005379_endocrine/exocrine_gland_phen2.08185691
16MP0005551_abnormal_eye_electrophysiolog1.94884554
17MP0004957_abnormal_blastocyst_morpholog1.89859542
18MP0003111_abnormal_nucleus_morphology1.80586300
19MP0006036_abnormal_mitochondrial_physio1.79150935
20MP0001968_abnormal_touch/_nociception1.78239062
21MP0002332_abnormal_exercise_endurance1.77145270
22MP0001485_abnormal_pinna_reflex1.74315283
23MP0003195_calcinosis1.69578834
24MP0003567_abnormal_fetal_cardiomyocyte1.68376448
25MP0005266_abnormal_metabolism1.63601403
26MP0001661_extended_life_span1.58045026
27MP0006072_abnormal_retinal_apoptosis1.53204387
28MP0004043_abnormal_pH_regulation1.45173359
29MP0001346_abnormal_lacrimal_gland1.43754686
30MP0003693_abnormal_embryo_hatching1.43089372
31MP0003806_abnormal_nucleotide_metabolis1.42900975
32MP0003646_muscle_fatigue1.40420773
33MP0008875_abnormal_xenobiotic_pharmacok1.38078604
34MP0003011_delayed_dark_adaptation1.36755338
35MP0006276_abnormal_autonomic_nervous1.35929307
36MP0003077_abnormal_cell_cycle1.31971236
37MP0009278_abnormal_bone_marrow1.31083970
38MP0009046_muscle_twitch1.21268905
39MP0001905_abnormal_dopamine_level1.17078017
40MP0003763_abnormal_thymus_physiology1.15710060
41MP0005167_abnormal_blood-brain_barrier1.15058845
42MP0004142_abnormal_muscle_tone1.14080558
43MP0001929_abnormal_gametogenesis1.13651242
44MP0005645_abnormal_hypothalamus_physiol1.11202491
45MP0005330_cardiomyopathy1.11035864
46MP0002102_abnormal_ear_morphology1.10885308
47MP0000358_abnormal_cell_content/1.10736271
48MP0002210_abnormal_sex_determination1.06441746
49MP0002396_abnormal_hematopoietic_system1.04971208
50MP0003191_abnormal_cellular_cholesterol1.03510844
51MP0001764_abnormal_homeostasis1.03506550
52MP0003638_abnormal_response/metabolism_1.01827028
53MP0005671_abnormal_response_to1.01400803
54MP0001879_abnormal_lymphatic_vessel1.01313082
55MP0000372_irregular_coat_pigmentation1.01038255
56MP0002095_abnormal_skin_pigmentation1.00099469
57MP0005075_abnormal_melanosome_morpholog0.99651243
58MP0002019_abnormal_tumor_incidence0.96589088
59MP0001119_abnormal_female_reproductive0.95731783
60MP0000003_abnormal_adipose_tissue0.94669184
61MP0003252_abnormal_bile_duct0.92812184
62MP0000015_abnormal_ear_pigmentation0.92108061
63MP0008007_abnormal_cellular_replicative0.92103290
64MP0000749_muscle_degeneration0.91817119
65MP0005332_abnormal_amino_acid0.91621874
66MP0000371_diluted_coat_color0.87475858
67MP0005385_cardiovascular_system_phenoty0.87122611
68MP0001544_abnormal_cardiovascular_syste0.87122611
69MP0005319_abnormal_enzyme/_coenzyme0.86797284
70MP0004215_abnormal_myocardial_fiber0.86570672
71MP0008873_increased_physiological_sensi0.85363495
72MP0002736_abnormal_nociception_after0.83559223
73MP0008932_abnormal_embryonic_tissue0.83185890
74MP0004147_increased_porphyrin_level0.82987523
75MP0005365_abnormal_bile_salt0.82677501
76MP0008877_abnormal_DNA_methylation0.81958139
77MP0000653_abnormal_sex_gland0.81818282
78MP0005464_abnormal_platelet_physiology0.80976581
79MP0005253_abnormal_eye_physiology0.78696075
80MP0005448_abnormal_energy_balance0.78380488
81MP0004185_abnormal_adipocyte_glucose0.77175112
82MP0001145_abnormal_male_reproductive0.75810301
83MP0002090_abnormal_vision0.75065263
84MP0005647_abnormal_sex_gland0.75061407
85MP0003879_abnormal_hair_cell0.73564937
86MP0001963_abnormal_hearing_physiology0.73248730
87MP0002693_abnormal_pancreas_physiology0.72350615
88MP0010368_abnormal_lymphatic_system0.71358911
89MP0002229_neurodegeneration0.70011773
90MP0003890_abnormal_embryonic-extraembry0.69379154
91MP0005376_homeostasis/metabolism_phenot0.69222370
92MP0003698_abnormal_male_reproductive0.68654673
93MP0004145_abnormal_muscle_electrophysio0.66590296
94MP0002067_abnormal_sensory_capabilities0.65451170
95MP0000427_abnormal_hair_cycle0.64462900
96MP0002160_abnormal_reproductive_system0.64304544
97MP0005670_abnormal_white_adipose0.61140057
98MP0005535_abnormal_body_temperature0.59920518
99MP0008872_abnormal_physiological_respon0.59090425
100MP0009763_increased_sensitivity_to0.56866931

Predicted human phenotypes

RankGene SetZ-score
1Mitochondrial inheritance (HP:0001427)4.47700020
2Lipid accumulation in hepatocytes (HP:0006561)4.45474485
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.26873889
4Chromsome breakage (HP:0040012)3.86611198
5Type I transferrin isoform profile (HP:0003642)3.82627818
6Hepatocellular necrosis (HP:0001404)3.71361384
7Abnormality of the ileum (HP:0001549)3.62759222
8Duplicated collecting system (HP:0000081)3.50943756
9Acute necrotizing encephalopathy (HP:0006965)3.45213693
10Decreased electroretinogram (ERG) amplitude (HP:0000654)3.41713656
11Increased CSF lactate (HP:0002490)3.41076060
12Severe visual impairment (HP:0001141)3.39958511
13Renal cortical cysts (HP:0000803)3.36928610
14Hepatic necrosis (HP:0002605)3.33323894
15Abnormality of the renal collecting system (HP:0004742)3.32536947
16Increased hepatocellular lipid droplets (HP:0006565)3.30166234
17Abnormal mitochondria in muscle tissue (HP:0008316)3.20009724
18Aplasia/Hypoplasia of the uvula (HP:0010293)3.14264057
19Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.07654826
20Abnormality of chromosome stability (HP:0003220)2.99772055
213-Methylglutaconic aciduria (HP:0003535)2.98794463
22Meckel diverticulum (HP:0002245)2.96982343
23Large for gestational age (HP:0001520)2.92980158
24Increased muscle lipid content (HP:0009058)2.91275405
25Intestinal atresia (HP:0011100)2.88567474
26Acute encephalopathy (HP:0006846)2.87072641
27Abnormality of the preputium (HP:0100587)2.84809807
28Ureteral duplication (HP:0000073)2.84697601
29Autoimmune hemolytic anemia (HP:0001890)2.83369231
30Renal Fanconi syndrome (HP:0001994)2.82064220
31Abnormality of fatty-acid metabolism (HP:0004359)2.78674818
32Abnormality of DNA repair (HP:0003254)2.77137514
33Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.74448104
34Abnormal protein N-linked glycosylation (HP:0012347)2.74448104
35Abnormal protein glycosylation (HP:0012346)2.74448104
36Abnormal glycosylation (HP:0012345)2.74448104
37Reticulocytopenia (HP:0001896)2.66076502
38Progressive macrocephaly (HP:0004481)2.61812964
39Reduced antithrombin III activity (HP:0001976)2.60855562
40Progressive microcephaly (HP:0000253)2.56914628
41Abnormality of pyrimidine metabolism (HP:0004353)2.54835480
42Polydipsia (HP:0001959)2.46467487
43Abnormal drinking behavior (HP:0030082)2.46467487
44Exertional dyspnea (HP:0002875)2.43925129
45Thyroid-stimulating hormone excess (HP:0002925)2.43513434
46Increased circulating renin level (HP:0000848)2.42583444
47Clubbing of toes (HP:0100760)2.41471137
48Colon cancer (HP:0003003)2.34243499
49Attenuation of retinal blood vessels (HP:0007843)2.32133829
50Hypomagnesemia (HP:0002917)2.31914863
51Increased intramyocellular lipid droplets (HP:0012240)2.30669661
52Cerebral edema (HP:0002181)2.30462475
53Pancreatic islet-cell hyperplasia (HP:0004510)2.28384134
54Autoimmune thrombocytopenia (HP:0001973)2.28038741
55Duodenal stenosis (HP:0100867)2.24158975
56Small intestinal stenosis (HP:0012848)2.24158975
57Respiratory failure (HP:0002878)2.23209022
58Ependymoma (HP:0002888)2.20214871
59Abnormality of the renal cortex (HP:0011035)2.17688411
60Cleft eyelid (HP:0000625)2.15738999
61Abnormality of methionine metabolism (HP:0010901)2.13267356
62Lactic acidosis (HP:0003128)2.12679469
63Abnormality of cochlea (HP:0000375)2.12502768
64Abnormal rod and cone electroretinograms (HP:0008323)2.11234245
65Abnormality of urine glucose concentration (HP:0011016)2.10862295
66Glycosuria (HP:0003076)2.10862295
67Increased serum lactate (HP:0002151)2.06808546
68Respiratory difficulties (HP:0002880)2.05378805
69Volvulus (HP:0002580)2.04014836
70Rough bone trabeculation (HP:0100670)2.01184814
71Glioma (HP:0009733)1.97755415
72Hypokalemic alkalosis (HP:0001949)1.97706467
73Pigmentary retinal degeneration (HP:0001146)1.97330792
74Nephronophthisis (HP:0000090)1.96583044
75Metabolic alkalosis (HP:0200114)1.94252560
76Abnormality of dicarboxylic acid metabolism (HP:0010995)1.94240332
77Dicarboxylic aciduria (HP:0003215)1.94240332
78Abnormality of magnesium homeostasis (HP:0004921)1.93645709
79Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.90958119
80Abnormality of glycolipid metabolism (HP:0010969)1.90196898
81Abnormality of liposaccharide metabolism (HP:0010968)1.90196898
82Abnormality of glycosphingolipid metabolism (HP:0004343)1.90196898
83Hyperthyroidism (HP:0000836)1.89893292
84Severe global developmental delay (HP:0011344)1.89275445
85Cerebral hemorrhage (HP:0001342)1.88861402
86Hypoalbuminemia (HP:0003073)1.87734518
87Abnormal albumin level (HP:0012116)1.87734518
88Abnormality of the duodenum (HP:0002246)1.85343933
89Horseshoe kidney (HP:0000085)1.85206713
90Polyuria (HP:0000103)1.84145393
91Tetany (HP:0001281)1.82127858
92Neutropenia (HP:0001875)1.82103462
93Optic disc pallor (HP:0000543)1.80209113
94Pancytopenia (HP:0001876)1.79562287
95Absent thumb (HP:0009777)1.78729891
96Gastrointestinal atresia (HP:0002589)1.76294223
97Bone marrow hypocellularity (HP:0005528)1.75702726
98Tinnitus (HP:0000360)1.75236960
99Bony spicule pigmentary retinopathy (HP:0007737)1.74743112
100Abnormality of aspartate family amino acid metabolism (HP:0010899)1.73982007

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST45.40519507
2BCKDK3.77447580
3MAP3K123.62021659
4BUB13.58781105
5VRK23.30523730
6RPS6KA42.64600495
7BMPR1B2.43624723
8ZAK2.34668083
9BCR2.15770974
10KDR1.95769556
11MAP4K21.95622117
12TIE11.83575891
13TEC1.77461812
14TGFBR21.71050239
15FRK1.64715150
16NEK11.61989582
17GRK71.61102939
18CDC71.55235223
19TNK21.53634817
20WNK31.46420267
21PASK1.40385823
22CSNK1A1L1.35369474
23PBK1.33814908
24CSNK1G11.33046681
25TRIM281.29862346
26MYLK1.26143035
27VRK11.25306347
28RPS6KA51.21527094
29CDK191.20832528
30EIF2AK31.20230669
31ATR1.13034609
32CSNK1G31.10344629
33TESK21.08860747
34CAMKK21.08163009
35STK101.02825287
36CDK30.96998812
37EIF2AK10.95041035
38TSSK60.92644998
39CSNK1G20.91021097
40PLK40.89450979
41DAPK10.87630044
42GRK60.87243594
43EIF2AK20.85716189
44GRK50.84091151
45CDK80.81928920
46BLK0.80834195
47BTK0.78537115
48NUAK10.78498074
49SYK0.78290181
50WEE10.76079912
51SCYL20.74466226
52TXK0.74168915
53INSRR0.73178867
54STK38L0.72854845
55ITK0.71715151
56CAMK1D0.71618888
57CHEK20.71460809
58MOS0.69444031
59ERBB30.68266454
60NME10.66299538
61OBSCN0.66008227
62AURKB0.65642241
63CAMKK10.64795890
64STK160.63838601
65IKBKE0.63807315
66ZAP700.63697576
67CDK120.62516000
68TGFBR10.61439882
69MAP2K60.61142216
70CCNB10.60640778
71STK40.59048965
72CAMK10.57655516
73GRK10.55018051
74PAK30.54243404
75CHEK10.52977913
76CLK10.52011604
77MAPK110.50553036
78HCK0.50399318
79OXSR10.50273019
80CDK40.49275311
81AURKA0.47592877
82TBK10.47507513
83CDK70.46962520
84FLT30.42971549
85NLK0.41172537
86TESK10.40920486
87SGK20.40657308
88PRKCG0.40493722
89LYN0.39210963
90CAMK40.36357495
91ATM0.35578455
92CSNK2A20.35337542
93ADRBK10.34428206
94SRPK10.34079751
95TTK0.33184747
96MAPK130.33045883
97PRKCD0.32959355
98PLK10.32822210
99ABL20.31575654
100MELK0.31476514

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.48810174
2DNA replication_Homo sapiens_hsa030304.43124819
3Mismatch repair_Homo sapiens_hsa034303.82540006
4Fanconi anemia pathway_Homo sapiens_hsa034603.49986437
5Homologous recombination_Homo sapiens_hsa034403.39652488
6RNA polymerase_Homo sapiens_hsa030203.12230898
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.02115040
8Oxidative phosphorylation_Homo sapiens_hsa001902.85988052
9Base excision repair_Homo sapiens_hsa034102.72165344
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.25686015
11Pyrimidine metabolism_Homo sapiens_hsa002402.12644017
12Parkinsons disease_Homo sapiens_hsa050122.06493131
13Vitamin B6 metabolism_Homo sapiens_hsa007502.00574837
14Huntingtons disease_Homo sapiens_hsa050161.92949389
15Ribosome_Homo sapiens_hsa030101.86027699
16Nucleotide excision repair_Homo sapiens_hsa034201.82111409
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.79348416
18Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.60909366
19Peroxisome_Homo sapiens_hsa041461.59421018
20One carbon pool by folate_Homo sapiens_hsa006701.45647322
21Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.38570609
22Alzheimers disease_Homo sapiens_hsa050101.38179154
23Drug metabolism - other enzymes_Homo sapiens_hsa009831.32932125
24Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.32711740
25Fatty acid elongation_Homo sapiens_hsa000621.31967583
26Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.30995961
27Spliceosome_Homo sapiens_hsa030401.26779198
28Selenocompound metabolism_Homo sapiens_hsa004501.21437902
29Purine metabolism_Homo sapiens_hsa002301.21405357
30Phototransduction_Homo sapiens_hsa047441.20787895
31Non-homologous end-joining_Homo sapiens_hsa034501.17670646
32Retinol metabolism_Homo sapiens_hsa008301.16243698
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.12562642
34Primary immunodeficiency_Homo sapiens_hsa053401.11997940
35Protein export_Homo sapiens_hsa030601.11913419
36Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.11834797
37Steroid hormone biosynthesis_Homo sapiens_hsa001401.10896109
38Butanoate metabolism_Homo sapiens_hsa006501.07796334
39RNA transport_Homo sapiens_hsa030131.05564756
40Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.04307572
41Cell cycle_Homo sapiens_hsa041101.03992768
42Fatty acid degradation_Homo sapiens_hsa000710.95011041
43RNA degradation_Homo sapiens_hsa030180.93930626
44Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.89442984
45Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.89351020
46Pentose and glucuronate interconversions_Homo sapiens_hsa000400.85083070
47Chemical carcinogenesis_Homo sapiens_hsa052040.83159973
48Basal transcription factors_Homo sapiens_hsa030220.78277046
49N-Glycan biosynthesis_Homo sapiens_hsa005100.76655384
50Glutathione metabolism_Homo sapiens_hsa004800.75960139
51Fatty acid metabolism_Homo sapiens_hsa012120.75094503
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.73425769
53Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.72828975
54Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.72484986
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.70927153
56Metabolic pathways_Homo sapiens_hsa011000.68411770
57Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.63197840
58Caffeine metabolism_Homo sapiens_hsa002320.62050798
59Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.62013262
60Ether lipid metabolism_Homo sapiens_hsa005650.60783377
61Cardiac muscle contraction_Homo sapiens_hsa042600.59807224
62Linoleic acid metabolism_Homo sapiens_hsa005910.56721130
63Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.56469774
64Collecting duct acid secretion_Homo sapiens_hsa049660.55525386
65alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.54577836
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.53005769
67Pyruvate metabolism_Homo sapiens_hsa006200.50225896
68Glycerophospholipid metabolism_Homo sapiens_hsa005640.49686057
69Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49079756
70Olfactory transduction_Homo sapiens_hsa047400.47919539
71PPAR signaling pathway_Homo sapiens_hsa033200.44331988
72Taste transduction_Homo sapiens_hsa047420.42586148
73Vitamin digestion and absorption_Homo sapiens_hsa049770.42163080
74Cysteine and methionine metabolism_Homo sapiens_hsa002700.41943000
75Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.41797863
76Legionellosis_Homo sapiens_hsa051340.41659173
77Systemic lupus erythematosus_Homo sapiens_hsa053220.41101375
78Propanoate metabolism_Homo sapiens_hsa006400.40854779
79Lysine degradation_Homo sapiens_hsa003100.39450779
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39247882
81Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.38356094
82Oocyte meiosis_Homo sapiens_hsa041140.35850252
83ABC transporters_Homo sapiens_hsa020100.34968351
84p53 signaling pathway_Homo sapiens_hsa041150.32598577
85Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.32494823
86mRNA surveillance pathway_Homo sapiens_hsa030150.28776599
87Type I diabetes mellitus_Homo sapiens_hsa049400.26594177
88Biosynthesis of amino acids_Homo sapiens_hsa012300.22910517
89Tryptophan metabolism_Homo sapiens_hsa003800.22714574
90Nicotine addiction_Homo sapiens_hsa050330.21345011
91beta-Alanine metabolism_Homo sapiens_hsa004100.20781291
92Regulation of autophagy_Homo sapiens_hsa041400.19490525
93Graft-versus-host disease_Homo sapiens_hsa053320.17710763
94Glycerolipid metabolism_Homo sapiens_hsa005610.16326783
95Allograft rejection_Homo sapiens_hsa053300.14957444
96Epstein-Barr virus infection_Homo sapiens_hsa051690.14738653
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.14571434
98Ovarian steroidogenesis_Homo sapiens_hsa049130.14230125
99Shigellosis_Homo sapiens_hsa051310.14065008
100RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.13857077

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