EXOSC3P1

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
1DNA deamination (GO:0045006)6.78665097
2proteasome assembly (GO:0043248)6.52966127
3rRNA modification (GO:0000154)5.21417351
4ribosome assembly (GO:0042255)5.07764438
5rRNA methylation (GO:0031167)4.76594590
6somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)4.32435343
7somatic diversification of immunoglobulins involved in immune response (GO:0002208)4.32435343
8isotype switching (GO:0045190)4.32435343
9exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.21736398
10cullin deneddylation (GO:0010388)4.17554192
11nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)4.11735543
12mitotic metaphase plate congression (GO:0007080)4.10438455
13protein deneddylation (GO:0000338)4.09506959
14transcription from mitochondrial promoter (GO:0006390)4.08060068
15CENP-A containing nucleosome assembly (GO:0034080)3.99587374
16negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.96368576
17chaperone-mediated protein transport (GO:0072321)3.92654274
18chromatin remodeling at centromere (GO:0031055)3.88802133
19regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.84164373
20DNA replication checkpoint (GO:0000076)3.75780694
21regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.72791146
22RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.71779162
23positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.69631674
24negative regulation of ligase activity (GO:0051352)3.67479318
25negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.67479318
26protein localization to kinetochore (GO:0034501)3.64330848
27purine nucleobase biosynthetic process (GO:0009113)3.63915869
28anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.60487039
29regulation of cellular amino acid metabolic process (GO:0006521)3.58884021
30metaphase plate congression (GO:0051310)3.53946065
31nucleobase biosynthetic process (GO:0046112)3.53774497
32DNA strand elongation involved in DNA replication (GO:0006271)3.45865561
33protein localization to chromosome, centromeric region (GO:0071459)3.44048580
34histone exchange (GO:0043486)3.43125035
35somatic recombination of immunoglobulin gene segments (GO:0016447)3.39989858
36telomere maintenance via semi-conservative replication (GO:0032201)3.39406203
37histone mRNA metabolic process (GO:0008334)3.37553356
38DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.36662615
39regulation of mitochondrial translation (GO:0070129)3.34337418
40signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.33937032
41signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.33937032
42signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.33937032
43positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.33255745
44signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.29629219
45intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.29629219
46DNA strand elongation (GO:0022616)3.29213975
47IMP biosynthetic process (GO:0006188)3.26083255
48positive regulation of ligase activity (GO:0051351)3.25380198
49somatic diversification of immunoglobulins (GO:0016445)3.23619212
50cytokinetic process (GO:0032506)3.22610242
51signal transduction involved in DNA integrity checkpoint (GO:0072401)3.21685034
52signal transduction involved in DNA damage checkpoint (GO:0072422)3.21685034
537-methylguanosine mRNA capping (GO:0006370)3.19852523
54establishment of protein localization to mitochondrial membrane (GO:0090151)3.19430293
55signal transduction involved in cell cycle checkpoint (GO:0072395)3.17915372
56pseudouridine synthesis (GO:0001522)3.16662163
57DNA replication-dependent nucleosome organization (GO:0034723)3.14198395
58DNA replication-dependent nucleosome assembly (GO:0006335)3.14198395
59DNA catabolic process, exonucleolytic (GO:0000738)3.13594572
60ribosomal large subunit biogenesis (GO:0042273)3.12924941
61replication fork processing (GO:0031297)3.12403771
62regulation of ubiquitin-protein transferase activity (GO:0051438)3.11793852
63rRNA processing (GO:0006364)3.11715643
64nucleotide-excision repair, DNA gap filling (GO:0006297)3.11010393
65RNA capping (GO:0036260)3.10823686
667-methylguanosine RNA capping (GO:0009452)3.10823686
67regulation of double-strand break repair via homologous recombination (GO:0010569)3.10126073
68DNA double-strand break processing (GO:0000729)3.09658900
69metallo-sulfur cluster assembly (GO:0031163)3.08985273
70iron-sulfur cluster assembly (GO:0016226)3.08985273
71positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)3.07792394
72DNA replication-independent nucleosome assembly (GO:0006336)3.07488119
73DNA replication-independent nucleosome organization (GO:0034724)3.07488119
74regulation of ligase activity (GO:0051340)3.06098848
75spliceosomal snRNP assembly (GO:0000387)3.05599502
76telomere maintenance via recombination (GO:0000722)3.05128511
77microtubule depolymerization (GO:0007019)3.05032986
78peptidyl-histidine modification (GO:0018202)3.01321505
79rRNA metabolic process (GO:0016072)2.98457205
80postreplication repair (GO:0006301)2.96664041
81protein targeting to mitochondrion (GO:0006626)2.93638178
82ncRNA catabolic process (GO:0034661)2.89021538
83apoptotic DNA fragmentation (GO:0006309)2.88602882
84mitotic recombination (GO:0006312)2.88307243
85L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.85791325
86mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.83471530
87termination of RNA polymerase III transcription (GO:0006386)2.82425925
88transcription elongation from RNA polymerase III promoter (GO:0006385)2.82425925
89somatic cell DNA recombination (GO:0016444)2.82281066
90somatic diversification of immune receptors via germline recombination within a single locus (GO:0002.82281066
91folic acid-containing compound biosynthetic process (GO:0009396)2.80340921
92methionine metabolic process (GO:0006555)2.78364031
93mitotic spindle checkpoint (GO:0071174)2.76789408
94positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.76695691
95positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.76695691
96positive regulation of mitotic sister chromatid separation (GO:1901970)2.76695691
97maturation of 5.8S rRNA (GO:0000460)2.76089837
98mitochondrial RNA metabolic process (GO:0000959)2.75669218
99somatic diversification of immune receptors (GO:0002200)2.75266888
100tRNA aminoacylation for protein translation (GO:0006418)2.74095050

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.76604549
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.68739525
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.17808363
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.71762589
5E2F4_17652178_ChIP-ChIP_JURKAT_Human3.68579733
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.36870136
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.28305061
8MYC_18555785_ChIP-Seq_MESCs_Mouse3.16020871
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.12976353
10ETS1_20019798_ChIP-Seq_JURKAT_Human2.91694696
11VDR_23849224_ChIP-Seq_CD4+_Human2.74550218
12CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.66729982
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.60502118
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.58028899
15DCP1A_22483619_ChIP-Seq_HELA_Human2.47436287
16EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.45740978
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.42255365
18ELK1_19687146_ChIP-ChIP_HELA_Human2.41547128
19FOXP3_21729870_ChIP-Seq_TREG_Human2.39868243
20HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.32632715
21MYC_19030024_ChIP-ChIP_MESCs_Mouse2.30260052
22PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.29227838
23MYC_18358816_ChIP-ChIP_MESCs_Mouse2.28999421
24NOTCH1_21737748_ChIP-Seq_TLL_Human2.25782970
25FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.20429837
26FOXM1_23109430_ChIP-Seq_U2OS_Human2.18019475
27E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.13167892
28THAP11_20581084_ChIP-Seq_MESCs_Mouse1.97912964
29IGF1R_20145208_ChIP-Seq_DFB_Human1.97674769
30SRF_21415370_ChIP-Seq_HL-1_Mouse1.96321607
31ELF1_17652178_ChIP-ChIP_JURKAT_Human1.96308117
32GABP_19822575_ChIP-Seq_HepG2_Human1.93448302
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.86561501
34E2F1_18555785_ChIP-Seq_MESCs_Mouse1.82125112
35NELFA_20434984_ChIP-Seq_ESCs_Mouse1.75835808
36TTF2_22483619_ChIP-Seq_HELA_Human1.75711592
37PADI4_21655091_ChIP-ChIP_MCF-7_Human1.75401516
38SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.75187925
39HOXB4_20404135_ChIP-ChIP_EML_Mouse1.73900240
40MYC_19079543_ChIP-ChIP_MESCs_Mouse1.73371205
41FLI1_27457419_Chip-Seq_LIVER_Mouse1.62133310
42KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.60117593
43MYCN_18555785_ChIP-Seq_MESCs_Mouse1.58419200
44POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.58315784
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.56898043
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.54978531
47ZNF274_21170338_ChIP-Seq_K562_Hela1.53283931
48AR_21909140_ChIP-Seq_LNCAP_Human1.50763283
49SALL1_21062744_ChIP-ChIP_HESCs_Human1.48045799
50ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.46735026
51E2F1_21310950_ChIP-Seq_MCF-7_Human1.46276015
52SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.40406063
53MYC_18940864_ChIP-ChIP_HL60_Human1.38606751
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.37886841
55PCGF2_27294783_Chip-Seq_ESCs_Mouse1.34881681
56EWS_26573619_Chip-Seq_HEK293_Human1.34599727
57KDM5A_27292631_Chip-Seq_BREAST_Human1.34329691
58XRN2_22483619_ChIP-Seq_HELA_Human1.32613265
59MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.30023760
60FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.25529928
61VDR_22108803_ChIP-Seq_LS180_Human1.22621682
62E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.19031779
63POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.15478289
64ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.13592104
65YY1_21170310_ChIP-Seq_MESCs_Mouse1.12422614
66CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.10214724
67ERG_20887958_ChIP-Seq_HPC-7_Mouse1.09846444
68HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.09161193
69EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.08959188
70POU3F2_20337985_ChIP-ChIP_501MEL_Human1.08764844
71AUTS2_25519132_ChIP-Seq_293T-REX_Human1.07429272
72BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.05110414
73FUS_26573619_Chip-Seq_HEK293_Human1.05095746
74TAF15_26573619_Chip-Seq_HEK293_Human1.04755622
75FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.04606921
76ZFX_18555785_ChIP-Seq_MESCs_Mouse1.03611861
77TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.98642635
78IRF1_19129219_ChIP-ChIP_H3396_Human0.96042221
79TP53_22573176_ChIP-Seq_HFKS_Human0.95635894
80CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93578044
81TFEB_21752829_ChIP-Seq_HELA_Human0.92187563
82ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.91624460
83SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.87419126
84CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.86608315
85EZH2_27294783_Chip-Seq_NPCs_Mouse0.83556742
86NFE2_27457419_Chip-Seq_LIVER_Mouse0.81530302
87FOXA1_25329375_ChIP-Seq_VCAP_Human0.81436646
88FOXA1_27270436_Chip-Seq_PROSTATE_Human0.81436646
89RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.79981082
90AR_20517297_ChIP-Seq_VCAP_Human0.77095057
91CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.76314356
92SUZ12_27294783_Chip-Seq_NPCs_Mouse0.76282478
93ELK1_22589737_ChIP-Seq_MCF10A_Human0.74134455
94NANOG_18555785_ChIP-Seq_MESCs_Mouse0.73957327
95HTT_18923047_ChIP-ChIP_STHdh_Human0.72646159
96FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72580852
97GATA3_26560356_Chip-Seq_TH2_Human0.70449139
98RBPJ_22232070_ChIP-Seq_NCS_Mouse0.70057754
99ELF5_23300383_ChIP-Seq_T47D_Human0.69320264
100PHF8_20622853_ChIP-Seq_HELA_Human0.66754552

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.02649722
2MP0008058_abnormal_DNA_repair4.50545948
3MP0010094_abnormal_chromosome_stability4.27032556
4MP0004957_abnormal_blastocyst_morpholog3.90811195
5MP0009697_abnormal_copulation3.82362560
6MP0003111_abnormal_nucleus_morphology3.69603848
7MP0008877_abnormal_DNA_methylation3.40842492
8MP0005187_abnormal_penis_morphology3.06299989
9MP0008057_abnormal_DNA_replication3.00587967
10MP0003077_abnormal_cell_cycle2.83900148
11MP0006036_abnormal_mitochondrial_physio2.59273586
12MP0003786_premature_aging2.55129812
13MP0008007_abnormal_cellular_replicative2.47886249
14MP0006035_abnormal_mitochondrial_morpho2.40211718
15MP0002160_abnormal_reproductive_system2.36289870
16MP0002102_abnormal_ear_morphology2.03970458
17MP0003718_maternal_effect2.02328010
18MP0008932_abnormal_embryonic_tissue1.98985479
19MP0003806_abnormal_nucleotide_metabolis1.83027439
20MP0010386_abnormal_urinary_bladder1.79528169
21MP0005389_reproductive_system_phenotype1.67969638
22MP0006072_abnormal_retinal_apoptosis1.67444176
23MP0005671_abnormal_response_to1.62531922
24MP0001730_embryonic_growth_arrest1.60756306
25MP0001929_abnormal_gametogenesis1.56391287
26MP0000647_abnormal_sebaceous_gland1.55636747
27MP0003195_calcinosis1.54954770
28MP0002210_abnormal_sex_determination1.46063383
29MP0003186_abnormal_redox_activity1.45448054
30MP0001764_abnormal_homeostasis1.44709104
31MP0001293_anophthalmia1.43575706
32MP0005410_abnormal_fertilization1.42834151
33MP0005084_abnormal_gallbladder_morpholo1.42654941
34MP0003252_abnormal_bile_duct1.42266559
35MP0009333_abnormal_splenocyte_physiolog1.37097825
36MP0001919_abnormal_reproductive_system1.33226877
37MP0008875_abnormal_xenobiotic_pharmacok1.31277798
38MP0000358_abnormal_cell_content/1.27405258
39MP0008873_increased_physiological_sensi1.26442851
40MP0005253_abnormal_eye_physiology1.22131623
41MP0006292_abnormal_olfactory_placode1.22088056
42MP0000653_abnormal_sex_gland1.21588813
43MP0001145_abnormal_male_reproductive1.19264371
44MP0000350_abnormal_cell_proliferation1.19004857
45MP0000313_abnormal_cell_death1.14224323
46MP0005085_abnormal_gallbladder_physiolo1.13386251
47MP0001697_abnormal_embryo_size1.12633419
48MP0005360_urolithiasis1.12276527
49MP0003221_abnormal_cardiomyocyte_apopto1.08172465
50MP0002090_abnormal_vision1.06556880
51MP0003698_abnormal_male_reproductive1.06227082
52MP0002080_prenatal_lethality1.01587205
53MP0001119_abnormal_female_reproductive1.00992222
54MP0001727_abnormal_embryo_implantation0.99928940
55MP0009785_altered_susceptibility_to0.97326649
56MP0005332_abnormal_amino_acid0.97271264
57MP0003943_abnormal_hepatobiliary_system0.96462936
58MP0010307_abnormal_tumor_latency0.96344475
59MP0002019_abnormal_tumor_incidence0.96129287
60MP0002938_white_spotting0.94558356
61MP0003121_genomic_imprinting0.93755381
62MP0006054_spinal_hemorrhage0.92088481
63MP0001529_abnormal_vocalization0.91742529
64MP0005380_embryogenesis_phenotype0.89619605
65MP0001672_abnormal_embryogenesis/_devel0.89619605
66MP0003315_abnormal_perineum_morphology0.87134030
67MP0000372_irregular_coat_pigmentation0.82864409
68MP0005636_abnormal_mineral_homeostasis0.82683421
69MP0002095_abnormal_skin_pigmentation0.79401834
70MP0003567_abnormal_fetal_cardiomyocyte0.78932071
71MP0002085_abnormal_embryonic_tissue0.78901950
72MP0002148_abnormal_hypersensitivity_rea0.76430891
73MP0001853_heart_inflammation0.75225210
74MP0005075_abnormal_melanosome_morpholog0.74018309
75MP0000569_abnormal_digit_pigmentation0.73444531
76MP0002398_abnormal_bone_marrow0.73296296
77MP0002161_abnormal_fertility/fecundity0.71277361
78MP0005266_abnormal_metabolism0.70255406
79MP0005365_abnormal_bile_salt0.69979817
80MP0002139_abnormal_hepatobiliary_system0.69864944
81MP0004215_abnormal_myocardial_fiber0.69595828
82MP0005645_abnormal_hypothalamus_physiol0.69350797
83MP0000689_abnormal_spleen_morphology0.68035272
84MP0001879_abnormal_lymphatic_vessel0.66796162
85MP0002234_abnormal_pharynx_morphology0.66619547
86MP0002006_tumorigenesis0.65801810
87MP0000703_abnormal_thymus_morphology0.63853391
88MP0002429_abnormal_blood_cell0.63201645
89MP0005319_abnormal_enzyme/_coenzyme0.63066982
90MP0001188_hyperpigmentation0.62769780
91MP0001324_abnormal_eye_pigmentation0.62608208
92MP0003984_embryonic_growth_retardation0.60672959
93MP0001790_abnormal_immune_system0.58269214
94MP0005387_immune_system_phenotype0.58269214
95MP0005330_cardiomyopathy0.58010616
96MP0002088_abnormal_embryonic_growth/wei0.57106377
97MP0005391_vision/eye_phenotype0.56204756
98MP0009053_abnormal_anal_canal0.56011129
99MP0002138_abnormal_hepatobiliary_system0.55770082
100MP0003123_paternal_imprinting0.55636225

Predicted human phenotypes

RankGene SetZ-score
1Sensory axonal neuropathy (HP:0003390)4.24493109
2Increased hepatocellular lipid droplets (HP:0006565)3.72409299
3Aplastic anemia (HP:0001915)3.63949944
4Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.56736581
5Acute necrotizing encephalopathy (HP:0006965)3.54799711
6Acute encephalopathy (HP:0006846)3.46450141
7Increased serum pyruvate (HP:0003542)3.31911917
8Abnormality of the labia minora (HP:0012880)3.31831343
9Lipid accumulation in hepatocytes (HP:0006561)3.29039777
10Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.14125558
11Increased CSF lactate (HP:0002490)3.10634266
12Abnormal mitochondria in muscle tissue (HP:0008316)3.10625837
13Progressive inability to walk (HP:0002505)3.09465378
14Mitochondrial inheritance (HP:0001427)3.04895726
15Progressive macrocephaly (HP:0004481)2.91678125
16Increased serum lactate (HP:0002151)2.91236341
17Poor head control (HP:0002421)2.86493542
18Abnormality of glycolysis (HP:0004366)2.85886663
19Cerebral edema (HP:0002181)2.77951014
20Abnormality of the preputium (HP:0100587)2.71984466
21Pancytopenia (HP:0001876)2.67184383
22Increased intramyocellular lipid droplets (HP:0012240)2.66346832
23Methylmalonic acidemia (HP:0002912)2.62916910
24Progressive microcephaly (HP:0000253)2.62453752
25Meckel diverticulum (HP:0002245)2.61728651
26Hepatic necrosis (HP:0002605)2.50994781
27Microvesicular hepatic steatosis (HP:0001414)2.50420834
28Abnormality of the ileum (HP:0001549)2.49698353
29Hypoglycemic coma (HP:0001325)2.47421960
30Renal Fanconi syndrome (HP:0001994)2.46654712
31Prominent metopic ridge (HP:0005487)2.44888686
32Lactic acidosis (HP:0003128)2.41812454
33Aplasia/Hypoplasia of the uvula (HP:0010293)2.40927163
34Hyperglycinemia (HP:0002154)2.39658531
35Abnormality of chromosome stability (HP:0003220)2.38156785
36Abnormality of serum amino acid levels (HP:0003112)2.35677206
37Progressive muscle weakness (HP:0003323)2.33519652
38Glycosuria (HP:0003076)2.32676736
39Abnormality of urine glucose concentration (HP:0011016)2.32676736
40Abnormal protein glycosylation (HP:0012346)2.31887144
41Abnormal glycosylation (HP:0012345)2.31887144
42Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.31887144
43Abnormal protein N-linked glycosylation (HP:0012347)2.31887144
44Chromsome breakage (HP:0040012)2.31072323
45Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.29309737
46Decreased activity of mitochondrial respiratory chain (HP:0008972)2.29309737
47Chromosomal breakage induced by crosslinking agents (HP:0003221)2.29299888
48Premature ovarian failure (HP:0008209)2.27954446
49Short middle phalanx of the 5th finger (HP:0004220)2.27199365
50Progressive external ophthalmoplegia (HP:0000590)2.26817752
51Duodenal stenosis (HP:0100867)2.26189164
52Small intestinal stenosis (HP:0012848)2.26189164
53Methylmalonic aciduria (HP:0012120)2.24880335
54Ragged-red muscle fibers (HP:0003200)2.20024397
553-Methylglutaconic aciduria (HP:0003535)2.19458506
56Degeneration of anterior horn cells (HP:0002398)2.19040472
57Abnormality of the anterior horn cell (HP:0006802)2.19040472
58Hepatocellular necrosis (HP:0001404)2.17604927
59Generalized aminoaciduria (HP:0002909)2.16572132
60Cleft eyelid (HP:0000625)2.15429007
61Multiple enchondromatosis (HP:0005701)2.15198183
62Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.15015389
63Abnormality of alanine metabolism (HP:0010916)2.15015389
64Hyperalaninemia (HP:0003348)2.15015389
65Birth length less than 3rd percentile (HP:0003561)2.14203212
66Aplasia/hypoplasia of the uterus (HP:0008684)2.13259904
67Abnormality of the distal phalanges of the toes (HP:0010182)2.11548895
68Abnormal umbilical cord blood vessels (HP:0011403)2.09050862
69Single umbilical artery (HP:0001195)2.09050862
70Abnormality of the fetal cardiovascular system (HP:0010948)2.09050862
71Reduced antithrombin III activity (HP:0001976)2.07714704
72Hypoplasia of the uterus (HP:0000013)2.05858851
73Exertional dyspnea (HP:0002875)2.05804780
74Type I transferrin isoform profile (HP:0003642)2.05431727
75Lethargy (HP:0001254)2.02788924
76Broad distal phalanx of finger (HP:0009836)2.02015275
77Increased muscle lipid content (HP:0009058)2.02007385
78Colon cancer (HP:0003003)2.01356737
79Exercise intolerance (HP:0003546)1.99083104
80Abnormality of the metopic suture (HP:0005556)1.98990143
81Megaloblastic anemia (HP:0001889)1.98147780
82Volvulus (HP:0002580)1.98003642
83IgM deficiency (HP:0002850)1.97170855
84Abnormality of methionine metabolism (HP:0010901)1.94544516
85Facial cleft (HP:0002006)1.94481444
86Bone marrow hypocellularity (HP:0005528)1.94446438
87Hypergonadotropic hypogonadism (HP:0000815)1.93590580
88Impaired proprioception (HP:0010831)1.93334882
89Median cleft lip (HP:0000161)1.93255517
90Abnormality of serine family amino acid metabolism (HP:0010894)1.92292797
91Abnormality of glycine metabolism (HP:0010895)1.92292797
92Agnosia (HP:0010524)1.91232472
93Respiratory difficulties (HP:0002880)1.88212202
94IgG deficiency (HP:0004315)1.87451509
95Inability to walk (HP:0002540)1.87038485
96Clubbing of toes (HP:0100760)1.85390257
97Absent thumb (HP:0009777)1.84338015
98Hyperglycinuria (HP:0003108)1.84065870
99Hypoglycemic seizures (HP:0002173)1.83708805
100Dicarboxylic aciduria (HP:0003215)1.83214186

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST45.04193038
2BUB14.23563022
3NEK13.20190224
4DYRK33.10403609
5SRPK12.93879809
6TRIM282.91057567
7EIF2AK32.69937220
8CDC72.67821698
9PLK42.57494937
10ZAK2.53840363
11TSSK62.52096651
12TTK2.34773309
13PBK2.24749994
14EIF2AK12.20030651
15BCKDK2.17448740
16TESK21.94806419
17WEE11.83856143
18PLK31.81111598
19STK161.74675317
20VRK21.63026347
21PLK11.59707295
22RPS6KA41.50315036
23STK391.40861894
24VRK11.34427504
25MKNK11.33808383
26MAPKAPK31.32631575
27NUAK11.31532021
28MAP4K21.28646738
29WNK31.23838067
30STK101.20927778
31LIMK11.15232468
32EIF2AK21.14870849
33KDR1.12895862
34TLK11.12679703
35OXSR11.11856898
36TXK1.09988504
37ACVR1B1.08696914
38AURKB1.07850382
39ATR1.06187974
40CLK11.04418820
41MAP3K41.02832041
42ERBB30.97158119
43MKNK20.95025901
44MAP3K120.94508923
45PASK0.93971868
46BMPR1B0.90160193
47INSRR0.88008060
48CHEK10.79440603
49TESK10.79323603
50WNK40.77765998
51MST1R0.73590281
52BCR0.72915002
53CDK190.72801360
54PLK20.71956948
55NME20.70002943
56ABL20.68925500
57CSNK1G30.68219285
58FRK0.67050676
59AURKA0.63593859
60CSNK2A10.63397821
61TIE10.62800072
62TNIK0.62622518
63ATM0.61910601
64CDK70.59825181
65MAP3K50.58221423
66AKT20.57643469
67ADRBK20.57262968
68CHEK20.56900548
69CCNB10.56744151
70CSNK1G10.56411507
71BMPR20.55099153
72PDK20.52696018
73NME10.52472682
74CSNK2A20.52448013
75STK40.51427102
76CSNK1G20.49128666
77MAP2K70.47511382
78RPS6KA50.41649452
79DAPK10.41356753
80CSNK1A1L0.40955651
81MAP3K80.40481358
82NEK20.39517673
83GRK10.37935077
84TGFBR10.37068723
85ALK0.34736401
86MAPKAPK50.34646751
87CDK40.34567814
88CDK90.34290885
89FGFR10.32338112
90CDK30.30613184
91STK30.30371208
92RPS6KB20.28789069
93CDK80.28370051
94PRKCI0.28310168
95MAP3K30.28308760
96BRD40.26722809
97CSNK1A10.25088475
98MAPK130.24089570
99TAOK10.22683419
100BRSK20.22274950

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.56011761
2Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.78786063
3Mismatch repair_Homo sapiens_hsa034303.22987607
4DNA replication_Homo sapiens_hsa030303.20174954
5RNA polymerase_Homo sapiens_hsa030202.70566654
6Protein export_Homo sapiens_hsa030602.66898882
7One carbon pool by folate_Homo sapiens_hsa006702.53081154
8Non-homologous end-joining_Homo sapiens_hsa034502.36556983
9Homologous recombination_Homo sapiens_hsa034402.33367974
10Propanoate metabolism_Homo sapiens_hsa006402.25921548
11Basal transcription factors_Homo sapiens_hsa030222.25915816
12Base excision repair_Homo sapiens_hsa034102.14625942
13RNA degradation_Homo sapiens_hsa030182.10835759
14Oxidative phosphorylation_Homo sapiens_hsa001902.07723774
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.02713721
16Fanconi anemia pathway_Homo sapiens_hsa034602.01086033
17RNA transport_Homo sapiens_hsa030131.98934154
18Parkinsons disease_Homo sapiens_hsa050121.86569619
19Spliceosome_Homo sapiens_hsa030401.85197745
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.77925672
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.76683499
22Cysteine and methionine metabolism_Homo sapiens_hsa002701.72391682
23Nucleotide excision repair_Homo sapiens_hsa034201.71603606
24Pyrimidine metabolism_Homo sapiens_hsa002401.64753292
25Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.62994282
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.57317662
27Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.56989753
28Ribosome_Homo sapiens_hsa030101.41670398
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.40432978
30Vitamin B6 metabolism_Homo sapiens_hsa007501.39339182
31Huntingtons disease_Homo sapiens_hsa050161.39063170
32Cell cycle_Homo sapiens_hsa041101.37586197
33Fatty acid elongation_Homo sapiens_hsa000621.34428558
34Pyruvate metabolism_Homo sapiens_hsa006201.33689190
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.24661293
36Sulfur metabolism_Homo sapiens_hsa009201.15389309
37Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.11564173
38Caffeine metabolism_Homo sapiens_hsa002321.11466258
39mRNA surveillance pathway_Homo sapiens_hsa030151.09077443
40Purine metabolism_Homo sapiens_hsa002301.08462496
41Glutathione metabolism_Homo sapiens_hsa004801.07400405
42Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.05372479
43beta-Alanine metabolism_Homo sapiens_hsa004100.99656188
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.97724300
45Alzheimers disease_Homo sapiens_hsa050100.94477720
46Primary immunodeficiency_Homo sapiens_hsa053400.94256069
472-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.93482420
48SNARE interactions in vesicular transport_Homo sapiens_hsa041300.91389530
49Selenocompound metabolism_Homo sapiens_hsa004500.90806975
50Butanoate metabolism_Homo sapiens_hsa006500.87679061
51Peroxisome_Homo sapiens_hsa041460.86984188
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.86735346
53Carbon metabolism_Homo sapiens_hsa012000.85945260
54Primary bile acid biosynthesis_Homo sapiens_hsa001200.85276028
55Steroid biosynthesis_Homo sapiens_hsa001000.82043551
56Folate biosynthesis_Homo sapiens_hsa007900.78505190
57Drug metabolism - other enzymes_Homo sapiens_hsa009830.77775274
58Oocyte meiosis_Homo sapiens_hsa041140.75991786
59Regulation of autophagy_Homo sapiens_hsa041400.74367126
60p53 signaling pathway_Homo sapiens_hsa041150.73213246
61Sulfur relay system_Homo sapiens_hsa041220.71477474
62Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.70982230
63Metabolic pathways_Homo sapiens_hsa011000.68497850
64Pentose and glucuronate interconversions_Homo sapiens_hsa000400.66136593
65Biosynthesis of amino acids_Homo sapiens_hsa012300.63887139
66Olfactory transduction_Homo sapiens_hsa047400.61521677
67Collecting duct acid secretion_Homo sapiens_hsa049660.60532380
68Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.60394616
69Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.58781172
70Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.56776536
71Maturity onset diabetes of the young_Homo sapiens_hsa049500.56039175
72Epstein-Barr virus infection_Homo sapiens_hsa051690.54163618
73Arginine and proline metabolism_Homo sapiens_hsa003300.51933387
74Fatty acid degradation_Homo sapiens_hsa000710.51173756
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47658209
76Fatty acid metabolism_Homo sapiens_hsa012120.47646373
77Arginine biosynthesis_Homo sapiens_hsa002200.45438306
78Phototransduction_Homo sapiens_hsa047440.39644868
79Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.39589133
80Linoleic acid metabolism_Homo sapiens_hsa005910.38626330
81Retinol metabolism_Homo sapiens_hsa008300.38576739
82N-Glycan biosynthesis_Homo sapiens_hsa005100.38496600
83Tryptophan metabolism_Homo sapiens_hsa003800.36360821
84Steroid hormone biosynthesis_Homo sapiens_hsa001400.36344505
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33033162
86Arachidonic acid metabolism_Homo sapiens_hsa005900.30904690
87Measles_Homo sapiens_hsa051620.29759723
88Herpes simplex infection_Homo sapiens_hsa051680.27745504
89Chemical carcinogenesis_Homo sapiens_hsa052040.27296425
90Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.27274281
91Phenylalanine metabolism_Homo sapiens_hsa003600.27165599
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26424337
93NF-kappa B signaling pathway_Homo sapiens_hsa040640.25513501
94Renin-angiotensin system_Homo sapiens_hsa046140.25484926
95RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.25135757
96Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.25081365
97Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.22774975
98Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.22107310
99Legionellosis_Homo sapiens_hsa051340.17623775
100Ether lipid metabolism_Homo sapiens_hsa005650.13748720

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