CA5BP1

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
1proteasome assembly (GO:0043248)6.38194922
2negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.37513491
3regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.26619986
4cullin deneddylation (GO:0010388)4.24307222
5positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.20402682
6protein deneddylation (GO:0000338)4.16481208
7negative regulation of ligase activity (GO:0051352)4.04878843
8negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.04878843
9anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.01014792
10DNA strand elongation involved in DNA replication (GO:0006271)3.97779204
11DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.94867635
12regulation of cellular amino acid metabolic process (GO:0006521)3.93549379
13signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.88269132
14signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.88269132
15signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.88269132
16intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.87127842
17signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.87127842
18DNA strand elongation (GO:0022616)3.81649766
19signal transduction involved in DNA damage checkpoint (GO:0072422)3.72130996
20signal transduction involved in DNA integrity checkpoint (GO:0072401)3.72130996
21establishment of integrated proviral latency (GO:0075713)3.71485546
22establishment of viral latency (GO:0019043)3.71072151
23signal transduction involved in cell cycle checkpoint (GO:0072395)3.70284624
24chaperone-mediated protein transport (GO:0072321)3.61980150
25chromatin remodeling at centromere (GO:0031055)3.61361309
26positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.61285911
27DNA deamination (GO:0045006)3.61080746
28CENP-A containing nucleosome assembly (GO:0034080)3.57181754
29ribosome assembly (GO:0042255)3.52114730
30respiratory chain complex IV assembly (GO:0008535)3.51412221
31protein targeting to mitochondrion (GO:0006626)3.49945071
32positive regulation of ligase activity (GO:0051351)3.48837575
33rRNA modification (GO:0000154)3.46148755
34histone H2A acetylation (GO:0043968)3.42434981
35telomere maintenance via semi-conservative replication (GO:0032201)3.34215748
36regulation of ubiquitin-protein transferase activity (GO:0051438)3.33962765
37DNA catabolic process, exonucleolytic (GO:0000738)3.30834995
38regulation of mitochondrial translation (GO:0070129)3.29774589
39spliceosomal snRNP assembly (GO:0000387)3.29630694
40DNA replication checkpoint (GO:0000076)3.27737300
41deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.26947069
42cytochrome complex assembly (GO:0017004)3.26863780
43pseudouridine synthesis (GO:0001522)3.24894714
44deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.24887364
45regulation of ligase activity (GO:0051340)3.24652646
46histone mRNA metabolic process (GO:0008334)3.18349268
47mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.16639373
48mitochondrial respiratory chain complex I assembly (GO:0032981)3.16639373
49NADH dehydrogenase complex assembly (GO:0010257)3.16639373
50protein complex biogenesis (GO:0070271)3.16291840
51exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.15816422
52establishment of protein localization to mitochondrion (GO:0072655)3.15065916
53termination of RNA polymerase III transcription (GO:0006386)3.12775374
54transcription elongation from RNA polymerase III promoter (GO:0006385)3.12775374
55mitochondrial respiratory chain complex assembly (GO:0033108)3.12440318
56negative regulation of protein ubiquitination (GO:0031397)3.12330018
57pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.11833003
58nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.09775283
59RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.09730578
60tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.09730578
61antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.08623200
62maturation of 5.8S rRNA (GO:0000460)3.06317570
63protein localization to mitochondrion (GO:0070585)3.04896472
64DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.02585355
65establishment of protein localization to mitochondrial membrane (GO:0090151)3.00617043
66positive regulation of cell cycle arrest (GO:0071158)2.99431212
67G1/S transition of mitotic cell cycle (GO:0000082)2.95988123
68cell cycle G1/S phase transition (GO:0044843)2.95988123
69metallo-sulfur cluster assembly (GO:0031163)2.95963143
70iron-sulfur cluster assembly (GO:0016226)2.95963143
71DNA unwinding involved in DNA replication (GO:0006268)2.95155634
72negative regulation of protein modification by small protein conjugation or removal (GO:1903321)2.95114611
73antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.95010371
74transcription from mitochondrial promoter (GO:0006390)2.93091643
75protein maturation by protein folding (GO:0022417)2.93001738
76peptidyl-histidine modification (GO:0018202)2.91567103
77DNA replication initiation (GO:0006270)2.89547642
78regulation of cellular amine metabolic process (GO:0033238)2.88040776
79replication fork processing (GO:0031297)2.85564201
80histone exchange (GO:0043486)2.85176441
81pteridine-containing compound biosynthetic process (GO:0042559)2.84206921
82DNA damage response, detection of DNA damage (GO:0042769)2.83664014
83pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.82123271
84purine nucleobase biosynthetic process (GO:0009113)2.81530844
85L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.79550676
86deoxyribonucleotide catabolic process (GO:0009264)2.78400531
87signal transduction in response to DNA damage (GO:0042770)2.78309113
88rRNA methylation (GO:0031167)2.77116866
89IMP biosynthetic process (GO:0006188)2.75621531
90mitochondrial RNA metabolic process (GO:0000959)2.75194689
91deoxyribose phosphate catabolic process (GO:0046386)2.74229110
92base-excision repair (GO:0006284)2.72573877
93telomere maintenance via recombination (GO:0000722)2.71050060
94DNA double-strand break processing (GO:0000729)2.70988242
95histone mRNA catabolic process (GO:0071044)2.70530440
96DNA replication-independent nucleosome assembly (GO:0006336)2.69890166
97DNA replication-independent nucleosome organization (GO:0034724)2.69890166
98mitotic recombination (GO:0006312)2.69248857
99non-recombinational repair (GO:0000726)2.68488919
100double-strand break repair via nonhomologous end joining (GO:0006303)2.68488919

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.97899488
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.11609317
3NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.14596991
4GABP_17652178_ChIP-ChIP_JURKAT_Human4.06792065
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.83490877
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.81027645
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.36070527
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.33500974
9ELF1_17652178_ChIP-ChIP_JURKAT_Human3.13008207
10MYC_18555785_ChIP-Seq_MESCs_Mouse3.03027968
11EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.96752806
12E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.91658024
13E2F4_17652178_ChIP-ChIP_JURKAT_Human2.83501053
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.68510539
15VDR_23849224_ChIP-Seq_CD4+_Human2.65133738
16MYC_18358816_ChIP-ChIP_MESCs_Mouse2.59892008
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.57357240
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.53782239
19FOXP3_21729870_ChIP-Seq_TREG_Human2.48716226
20FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.46198847
21MYC_19030024_ChIP-ChIP_MESCs_Mouse2.43772302
22DCP1A_22483619_ChIP-Seq_HELA_Human2.35863982
23GABP_19822575_ChIP-Seq_HepG2_Human2.31326640
24ELK1_19687146_ChIP-ChIP_HELA_Human2.27514314
25SRF_21415370_ChIP-Seq_HL-1_Mouse2.26262729
26PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.26208902
27FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.25513072
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.22257602
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.14812636
30E2F1_18555785_ChIP-Seq_MESCs_Mouse2.12600744
31CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.11744600
32PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.10501608
33HOXB4_20404135_ChIP-ChIP_EML_Mouse2.08659657
34NELFA_20434984_ChIP-Seq_ESCs_Mouse2.08651120
35CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.91971812
36YY1_21170310_ChIP-Seq_MESCs_Mouse1.88184946
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.86245871
38MYC_19079543_ChIP-ChIP_MESCs_Mouse1.85850446
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.78032858
40YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.71325684
41MYCN_18555785_ChIP-Seq_MESCs_Mouse1.70947381
42FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.65436596
43TTF2_22483619_ChIP-Seq_HELA_Human1.63147869
44XRN2_22483619_ChIP-Seq_HELA_Human1.59397014
45TFEB_21752829_ChIP-Seq_HELA_Human1.59075005
46PADI4_21655091_ChIP-ChIP_MCF-7_Human1.57783368
47ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.57485602
48KDM5A_27292631_Chip-Seq_BREAST_Human1.56597542
49CIITA_25753668_ChIP-Seq_RAJI_Human1.55963471
50CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.53158529
51SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.50688877
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.44039908
53E2F1_21310950_ChIP-Seq_MCF-7_Human1.41505297
54MYC_18940864_ChIP-ChIP_HL60_Human1.40601823
55PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.39020226
56NOTCH1_21737748_ChIP-Seq_TLL_Human1.38187862
57ERG_20887958_ChIP-Seq_HPC-7_Mouse1.33695004
58FOXM1_23109430_ChIP-Seq_U2OS_Human1.33383211
59CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.32957866
60SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.32133294
61TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.30298869
62BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.29958292
63DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.29476100
64SALL1_21062744_ChIP-ChIP_HESCs_Human1.28829315
65POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.28369021
66E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.22617541
67ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.16313149
68MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.15721639
69* SPI1_23547873_ChIP-Seq_NB4_Human1.14213955
70NANOG_18555785_ChIP-Seq_MESCs_Mouse1.13984066
71GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.13517499
72POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.08150721
73HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.05516266
74KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.01772265
75SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.00097533
76ELK1_22589737_ChIP-Seq_MCF10A_Human0.97507132
77CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.97429171
78FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96439285
79AR_21909140_ChIP-Seq_LNCAP_Human0.93078706
80ZNF274_21170338_ChIP-Seq_K562_Hela0.90644887
81DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.90577109
82IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.89308130
83ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.88797620
84CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.85213831
85CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.81631785
86CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.79522311
87SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.75451850
88TBX5_21415370_ChIP-Seq_HL-1_Mouse0.74880563
89SOX17_20123909_ChIP-Seq_XEN_Mouse0.74311127
90STAT3_1855785_ChIP-Seq_MESCs_Mouse0.74281594
91IRF8_21731497_ChIP-ChIP_J774_Mouse0.73953766
92CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.72115440
93TP53_22573176_ChIP-Seq_HFKS_Human0.71702989
94KLF4_18555785_ChIP-Seq_MESCs_Mouse0.66467910
95FOXP1_21924763_ChIP-Seq_HESCs_Human0.64031052
96ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.63593966
97CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.61247352
98CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.60985474
99ELF5_23300383_ChIP-Seq_T47D_Human0.60165784
100CTCF_18555785_ChIP-Seq_MESCs_Mouse0.59608586

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000372_irregular_coat_pigmentation4.69458641
2MP0008058_abnormal_DNA_repair4.35910714
3MP0010094_abnormal_chromosome_stability3.88742695
4MP0003806_abnormal_nucleotide_metabolis3.23351791
5MP0003111_abnormal_nucleus_morphology3.13832416
6MP0003186_abnormal_redox_activity2.94543609
7MP0006035_abnormal_mitochondrial_morpho2.92928588
8MP0003693_abnormal_embryo_hatching2.92072656
9MP0006036_abnormal_mitochondrial_physio2.79930695
10MP0003786_premature_aging2.73397403
11MP0003718_maternal_effect2.71852407
12MP0005075_abnormal_melanosome_morpholog2.71753990
13MP0003077_abnormal_cell_cycle2.51831848
14MP0008260_abnormal_autophagy2.45677732
15MP0004957_abnormal_blastocyst_morpholog2.45369618
16MP0000015_abnormal_ear_pigmentation2.33552661
17MP0004147_increased_porphyrin_level2.31105457
18MP0008877_abnormal_DNA_methylation2.28403291
19MP0008932_abnormal_embryonic_tissue2.27787720
20MP0009697_abnormal_copulation2.17695220
21MP0005171_absent_coat_pigmentation2.17051257
22MP0008057_abnormal_DNA_replication2.16133201
23MP0003136_yellow_coat_color2.07267106
24MP0002254_reproductive_system_inflammat1.95547539
25MP0008007_abnormal_cellular_replicative1.92709834
26MP0000358_abnormal_cell_content/1.90574322
27MP0003172_abnormal_lysosome_physiology1.75444018
28MP0005174_abnormal_tail_pigmentation1.62622700
29MP0005408_hypopigmentation1.58720619
30MP0003656_abnormal_erythrocyte_physiolo1.55668729
31MP0003950_abnormal_plasma_membrane1.55170112
32MP0001764_abnormal_homeostasis1.52092944
33MP0002837_dystrophic_cardiac_calcinosis1.49757718
34MP0005397_hematopoietic_system_phenotyp1.44554889
35MP0001545_abnormal_hematopoietic_system1.44554889
36MP0006054_spinal_hemorrhage1.36253659
37MP0001730_embryonic_growth_arrest1.26733860
38MP0001853_heart_inflammation1.26631514
39MP0003890_abnormal_embryonic-extraembry1.25468930
40MP0000313_abnormal_cell_death1.25327032
41MP0001529_abnormal_vocalization1.25280515
42MP0002095_abnormal_skin_pigmentation1.25101177
43MP0002132_abnormal_respiratory_system1.22322461
44MP0002938_white_spotting1.18448888
45MP0002102_abnormal_ear_morphology1.17301530
46MP0003221_abnormal_cardiomyocyte_apopto1.16995431
47MP0008995_early_reproductive_senescence1.15346657
48MP0002148_abnormal_hypersensitivity_rea1.12826423
49MP0005670_abnormal_white_adipose1.09853250
50MP0001324_abnormal_eye_pigmentation1.09075094
51MP0003191_abnormal_cellular_cholesterol1.07560372
52MP0001697_abnormal_embryo_size1.06583099
53MP0000350_abnormal_cell_proliferation1.05421469
54MP0005058_abnormal_lysosome_morphology1.05368553
55MP0002877_abnormal_melanocyte_morpholog1.04630360
56MP0002090_abnormal_vision1.03068200
57MP0000569_abnormal_digit_pigmentation1.00988340
58MP0009840_abnormal_foam_cell0.97653220
59MP0001929_abnormal_gametogenesis0.97191509
60MP0005464_abnormal_platelet_physiology0.95216772
61MP0008873_increased_physiological_sensi0.92926761
62MP0009333_abnormal_splenocyte_physiolog0.91810573
63MP0002080_prenatal_lethality0.90641894
64MP0003646_muscle_fatigue0.90391833
65MP0002019_abnormal_tumor_incidence0.88094452
66MP0002210_abnormal_sex_determination0.87606907
67MP0004381_abnormal_hair_follicle0.87503588
68MP0002736_abnormal_nociception_after0.85263096
69MP0005384_cellular_phenotype0.82096531
70MP0005380_embryogenesis_phenotype0.82092220
71MP0001672_abnormal_embryogenesis/_devel0.82092220
72MP0005395_other_phenotype0.80998870
73MP0002396_abnormal_hematopoietic_system0.80158999
74MP0005330_cardiomyopathy0.78241125
75MP0001145_abnormal_male_reproductive0.76620351
76MP0000653_abnormal_sex_gland0.76582376
77MP0000749_muscle_degeneration0.74222872
78MP0000689_abnormal_spleen_morphology0.73029948
79MP0005410_abnormal_fertilization0.72670130
80MP0008789_abnormal_olfactory_epithelium0.70174060
81MP0005266_abnormal_metabolism0.68595726
82MP0010307_abnormal_tumor_latency0.68129950
83MP0001119_abnormal_female_reproductive0.67055726
84MP0000516_abnormal_urinary_system0.66500817
85MP0005367_renal/urinary_system_phenotyp0.66500817
86MP0001873_stomach_inflammation0.66224501
87MP0000371_diluted_coat_color0.64661482
88MP0003123_paternal_imprinting0.62141360
89MP0001727_abnormal_embryo_implantation0.61951098
90MP0009278_abnormal_bone_marrow0.61809650
91MP0000343_altered_response_to0.61220344
92MP0006072_abnormal_retinal_apoptosis0.60535905
93MP0003984_embryonic_growth_retardation0.60157475
94MP0005551_abnormal_eye_electrophysiolog0.59972788
95MP0005253_abnormal_eye_physiology0.59775403
96MP0002722_abnormal_immune_system0.58791198
97MP0002075_abnormal_coat/hair_pigmentati0.58362457
98MP0002429_abnormal_blood_cell0.57842792
99MP0006276_abnormal_autonomic_nervous0.56732124
100MP0005319_abnormal_enzyme/_coenzyme0.56647167

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.49241312
2Acute encephalopathy (HP:0006846)4.25952894
3Abnormal mitochondria in muscle tissue (HP:0008316)4.10884412
4Mitochondrial inheritance (HP:0001427)3.82453161
5Increased CSF lactate (HP:0002490)3.77849439
6Progressive macrocephaly (HP:0004481)3.77210654
7Hepatocellular necrosis (HP:0001404)3.56463701
8Abnormality of glycolysis (HP:0004366)3.35934301
9Increased serum pyruvate (HP:0003542)3.25520587
10Cholecystitis (HP:0001082)3.25093687
11Abnormal gallbladder physiology (HP:0012438)3.25093687
12Hepatic necrosis (HP:0002605)3.21401010
13Carpal bone hypoplasia (HP:0001498)3.14514945
14Petechiae (HP:0000967)3.07884925
15Type I transferrin isoform profile (HP:0003642)2.98851207
16Chromosomal breakage induced by crosslinking agents (HP:0003221)2.98673120
17Microvesicular hepatic steatosis (HP:0001414)2.88943936
18Cerebral edema (HP:0002181)2.88215088
19Increased serum lactate (HP:0002151)2.83159958
20Abnormality of alanine metabolism (HP:0010916)2.79019710
21Hyperalaninemia (HP:0003348)2.79019710
22Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.79019710
23Lactic acidosis (HP:0003128)2.76150986
24Chromsome breakage (HP:0040012)2.72678193
25Degeneration of anterior horn cells (HP:0002398)2.72347170
26Abnormality of the anterior horn cell (HP:0006802)2.72347170
27Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.60279807
28Decreased activity of mitochondrial respiratory chain (HP:0008972)2.60279807
29Respiratory failure (HP:0002878)2.55712540
30Microretrognathia (HP:0000308)2.52233495
31Exercise intolerance (HP:0003546)2.47307558
32Pancytopenia (HP:0001876)2.43982152
33Cutaneous melanoma (HP:0012056)2.43495969
34Abnormality of the heme biosynthetic pathway (HP:0010472)2.42393431
35Rough bone trabeculation (HP:0100670)2.41219393
36Albinism (HP:0001022)2.37552437
37Poor head control (HP:0002421)2.32474757
38Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.32205615
39Abnormal protein N-linked glycosylation (HP:0012347)2.32205615
40Abnormal protein glycosylation (HP:0012346)2.32205615
41Abnormal glycosylation (HP:0012345)2.32205615
42Delusions (HP:0000746)2.29055740
43CNS demyelination (HP:0007305)2.25793747
44Aplastic anemia (HP:0001915)2.25537529
45Reduced antithrombin III activity (HP:0001976)2.24710718
46Multiple enchondromatosis (HP:0005701)2.21963472
47Progressive inability to walk (HP:0002505)2.21648199
48Cerebral hypomyelination (HP:0006808)2.20994577
49Methylmalonic aciduria (HP:0012120)2.17606127
50Emotional lability (HP:0000712)2.16105466
51Respiratory difficulties (HP:0002880)2.15851903
52Aplasia/Hypoplasia of the fovea (HP:0008060)2.13810636
53Hypoplasia of the fovea (HP:0007750)2.13810636
54Patchy hypopigmentation of hair (HP:0011365)2.11261027
55Spastic paraparesis (HP:0002313)2.10371919
56Abnormality of the preputium (HP:0100587)2.09209270
57Methylmalonic acidemia (HP:0002912)2.09068925
58Hepatosplenomegaly (HP:0001433)2.05034766
59Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.03838146
60Lethargy (HP:0001254)2.03699406
61Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.03475388
62Optic disc pallor (HP:0000543)2.02890654
63Neoplasm of the adrenal gland (HP:0100631)2.02735491
64X-linked dominant inheritance (HP:0001423)1.99432713
65Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.98983789
66Meckel diverticulum (HP:0002245)1.98687291
67White forelock (HP:0002211)1.97121530
68Short middle phalanx of the 5th finger (HP:0004220)1.96451869
69Abnormality of the fovea (HP:0000493)1.95291879
70Renal Fanconi syndrome (HP:0001994)1.94876049
71Progressive microcephaly (HP:0000253)1.94848874
72Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.92809358
73Constricted visual fields (HP:0001133)1.91800250
743-Methylglutaconic aciduria (HP:0003535)1.90972034
75Atrophy/Degeneration involving motor neurons (HP:0007373)1.90842649
76Nausea (HP:0002018)1.90505302
77Progressive muscle weakness (HP:0003323)1.89558025
78Premature ovarian failure (HP:0008209)1.89526912
79Abnormality of chromosome stability (HP:0003220)1.88882206
80Leukodystrophy (HP:0002415)1.88091377
81Aplasia/Hypoplasia of the macula (HP:0008059)1.88003974
82Increased hepatocellular lipid droplets (HP:0006565)1.85748226
83Secondary amenorrhea (HP:0000869)1.84179632
84Abnormality of the ileum (HP:0001549)1.83007918
85Ragged-red muscle fibers (HP:0003200)1.82006690
86Upper limb muscle weakness (HP:0003484)1.81542193
87Postnatal microcephaly (HP:0005484)1.80680226
88Bone marrow hypocellularity (HP:0005528)1.80591062
89Aplasia/Hypoplasia of the uvula (HP:0010293)1.80461728
90Abnormality of lateral ventricle (HP:0030047)1.78497839
91Vacuolated lymphocytes (HP:0001922)1.78447299
92Cleft eyelid (HP:0000625)1.75863443
93Volvulus (HP:0002580)1.75035864
94Gliosis (HP:0002171)1.74422158
95Abnormal gallbladder morphology (HP:0012437)1.74389182
96Abnormality of the fetal cardiovascular system (HP:0010948)1.70844476
97Abnormal umbilical cord blood vessels (HP:0011403)1.70844476
98Single umbilical artery (HP:0001195)1.70844476
99Diaphragmatic weakness (HP:0009113)1.69309549
100Aplasia/hypoplasia of the uterus (HP:0008684)1.68967885

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK24.22129000
2TRIM284.00052306
3NEK13.51023786
4VRK23.38398988
5BUB13.36608556
6EIF2AK12.91295965
7SRPK12.71079054
8SIK32.49411883
9CDC72.42088094
10EIF2AK32.40700102
11NME22.32510394
12MST42.20309390
13STK162.02743686
14PBK1.87393271
15BCKDK1.86802867
16TTK1.78561038
17BRSK21.72615809
18PLK41.64156380
19PLK31.59783580
20TSSK61.58605658
21CSNK1G31.58048547
22WEE11.55353887
23PIM21.51224945
24ZAK1.46078046
25STK38L1.43038064
26MKNK11.33751737
27NME11.31965369
28BMPR1B1.29650285
29IRAK31.29313319
30CSNK1G11.28828575
31CSNK1G21.28793905
32ERBB31.28248703
33TESK21.27373014
34NUAK11.25214948
35VRK11.23924502
36BRSK11.20629067
37PLK21.18121538
38CCNB11.17861523
39DAPK11.15782944
40MKNK21.13722465
41CSNK1A1L1.11970192
42MARK31.11588816
43PLK11.10070976
44MAP3K121.05221902
45WNK31.03049918
46RPS6KA41.02601419
47STK100.99544093
48MAP4K20.90902009
49ATR0.86748421
50CHEK20.84067194
51KDR0.83090499
52BCR0.82647958
53TESK10.78788754
54ABL20.78389464
55TNK20.67911469
56PAK40.66470549
57MAP3K80.65673415
58CLK10.63161204
59ARAF0.63110784
60PRKCI0.62072898
61EIF2AK20.61349497
62LIMK10.58705230
63BRAF0.57776862
64CSNK2A10.55486123
65NEK20.55107893
66MAPKAPK30.51921960
67RPS6KA50.50302477
68ATM0.47950247
69IKBKB0.46999541
70MAP3K30.45846433
71FER0.45648552
72TEC0.44277835
73AURKB0.44110394
74CSNK2A20.43940061
75TAOK20.43673702
76PAK10.43612704
77DYRK20.43287006
78CHEK10.41628909
79MAPKAPK50.41555868
80IRAK40.40576559
81DYRK30.40308867
82CDK70.40149757
83MATK0.39456983
84MAP3K50.38153523
85KIT0.37839814
86STK40.36824405
87FLT30.36379538
88CDK190.35637871
89AURKA0.35524603
90TYK20.34077642
91BMPR20.32840709
92TNIK0.32509022
93SCYL20.31879444
94MAP2K30.29566202
95TAF10.27017019
96ACVR1B0.26718461
97PTK2B0.25240946
98PINK10.24421471
99RAF10.24209877
100FRK0.23908934

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.16582087
2DNA replication_Homo sapiens_hsa030303.65085545
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.92876138
4Mismatch repair_Homo sapiens_hsa034302.83531729
5Non-homologous end-joining_Homo sapiens_hsa034502.77564596
6Base excision repair_Homo sapiens_hsa034102.76727528
7RNA polymerase_Homo sapiens_hsa030202.71195661
8Protein export_Homo sapiens_hsa030602.44690659
9Homologous recombination_Homo sapiens_hsa034402.27991459
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.26157397
11Oxidative phosphorylation_Homo sapiens_hsa001902.19995613
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.11294853
13Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.10083969
14Parkinsons disease_Homo sapiens_hsa050122.03910083
15Pyrimidine metabolism_Homo sapiens_hsa002402.00580205
16Spliceosome_Homo sapiens_hsa030401.93201087
17Basal transcription factors_Homo sapiens_hsa030221.92444739
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.90751986
19Fatty acid elongation_Homo sapiens_hsa000621.88933635
20RNA transport_Homo sapiens_hsa030131.87755935
21Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.87270880
22Fanconi anemia pathway_Homo sapiens_hsa034601.80473813
23Cysteine and methionine metabolism_Homo sapiens_hsa002701.64383615
24Nucleotide excision repair_Homo sapiens_hsa034201.62484295
25RNA degradation_Homo sapiens_hsa030181.59712718
26One carbon pool by folate_Homo sapiens_hsa006701.50961936
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.47617347
28Huntingtons disease_Homo sapiens_hsa050161.45338604
29Glutathione metabolism_Homo sapiens_hsa004801.43316480
30Cell cycle_Homo sapiens_hsa041101.38459659
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.33422180
32Steroid biosynthesis_Homo sapiens_hsa001001.32275451
33Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.30867906
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.26869870
35Purine metabolism_Homo sapiens_hsa002301.25789643
36Biosynthesis of amino acids_Homo sapiens_hsa012301.23474406
37Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.21220389
38Carbon metabolism_Homo sapiens_hsa012001.19689316
39Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.17276021
40Propanoate metabolism_Homo sapiens_hsa006401.14084902
41Sulfur metabolism_Homo sapiens_hsa009201.13381913
42Pyruvate metabolism_Homo sapiens_hsa006201.07428319
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05356708
44Collecting duct acid secretion_Homo sapiens_hsa049660.95134868
45Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.94747723
46Alzheimers disease_Homo sapiens_hsa050100.93236438
47Sulfur relay system_Homo sapiens_hsa041220.91333077
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.91131123
49Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.85975437
50Regulation of autophagy_Homo sapiens_hsa041400.84374353
51p53 signaling pathway_Homo sapiens_hsa041150.83613308
52SNARE interactions in vesicular transport_Homo sapiens_hsa041300.83598122
53Galactose metabolism_Homo sapiens_hsa000520.83245714
54Folate biosynthesis_Homo sapiens_hsa007900.81914001
55Pentose phosphate pathway_Homo sapiens_hsa000300.79750455
56Peroxisome_Homo sapiens_hsa041460.79400873
57Metabolic pathways_Homo sapiens_hsa011000.77557738
58N-Glycan biosynthesis_Homo sapiens_hsa005100.76398990
59Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.75392312
60Epstein-Barr virus infection_Homo sapiens_hsa051690.73941696
61Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.68840661
62Ribosome_Homo sapiens_hsa030100.64256490
63Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.62319601
64Asthma_Homo sapiens_hsa053100.59661906
65Rheumatoid arthritis_Homo sapiens_hsa053230.58957277
66Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.58706974
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58667838
68Legionellosis_Homo sapiens_hsa051340.55674396
69Drug metabolism - other enzymes_Homo sapiens_hsa009830.52887586
70mRNA surveillance pathway_Homo sapiens_hsa030150.52141996
71Herpes simplex infection_Homo sapiens_hsa051680.51420099
72Vitamin B6 metabolism_Homo sapiens_hsa007500.50860770
73Oocyte meiosis_Homo sapiens_hsa041140.50708187
74Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.50705621
75Other glycan degradation_Homo sapiens_hsa005110.47789485
76Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.47475765
77Lysosome_Homo sapiens_hsa041420.45657915
78Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.45455240
79Fatty acid metabolism_Homo sapiens_hsa012120.42563169
80Fructose and mannose metabolism_Homo sapiens_hsa000510.41896162
81Vibrio cholerae infection_Homo sapiens_hsa051100.40843365
82Selenocompound metabolism_Homo sapiens_hsa004500.40453900
83Shigellosis_Homo sapiens_hsa051310.38654790
84Arginine and proline metabolism_Homo sapiens_hsa003300.38576268
85Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.35244285
86Tryptophan metabolism_Homo sapiens_hsa003800.34467735
87Sphingolipid metabolism_Homo sapiens_hsa006000.33620099
88Phototransduction_Homo sapiens_hsa047440.30803933
89Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.28325807
90Pentose and glucuronate interconversions_Homo sapiens_hsa000400.28300279
91Circadian rhythm_Homo sapiens_hsa047100.27627619
92Primary bile acid biosynthesis_Homo sapiens_hsa001200.26700380
93beta-Alanine metabolism_Homo sapiens_hsa004100.25751864
94Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.18347513
95Nitrogen metabolism_Homo sapiens_hsa009100.17842019
96Glycosaminoglycan degradation_Homo sapiens_hsa005310.17222283
97Type I diabetes mellitus_Homo sapiens_hsa049400.16968566
98Butanoate metabolism_Homo sapiens_hsa006500.15990535
99RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.14910663
100Primary immunodeficiency_Homo sapiens_hsa053400.14606633

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