CDK7PS

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: The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.65104030
2cullin deneddylation (GO:0010388)5.38784422
3piRNA metabolic process (GO:0034587)4.84717830
4protein deneddylation (GO:0000338)4.76756377
5protein neddylation (GO:0045116)4.44848492
6regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.27193277
7regulation of mitotic spindle checkpoint (GO:1903504)4.27193277
8DNA methylation involved in gamete generation (GO:0043046)4.15883017
9IMP biosynthetic process (GO:0006188)4.13921610
10ubiquinone biosynthetic process (GO:0006744)4.06807983
11ribosome assembly (GO:0042255)4.05169716
12establishment of protein localization to mitochondrial membrane (GO:0090151)4.04869247
13exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.02668382
14chaperone-mediated protein transport (GO:0072321)3.98868403
15DNA damage response, detection of DNA damage (GO:0042769)3.97949393
16nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.88459246
17ubiquinone metabolic process (GO:0006743)3.82619190
18platelet dense granule organization (GO:0060155)3.78537579
19organelle disassembly (GO:1903008)3.73232193
20DNA catabolic process, exonucleolytic (GO:0000738)3.72433726
21DNA double-strand break processing (GO:0000729)3.69957651
22establishment of integrated proviral latency (GO:0075713)3.68231088
23mitotic metaphase plate congression (GO:0007080)3.67539437
24negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.60933758
25IMP metabolic process (GO:0046040)3.60599143
26water-soluble vitamin biosynthetic process (GO:0042364)3.57837754
27maturation of 5.8S rRNA (GO:0000460)3.55757950
28chromatin remodeling at centromere (GO:0031055)3.47489049
29regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.46510585
30transcription elongation from RNA polymerase I promoter (GO:0006362)3.46132102
31RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.45031988
32L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.44329080
33CENP-A containing nucleosome assembly (GO:0034080)3.40202141
34rRNA modification (GO:0000154)3.36541821
35RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.36376465
36tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.36376465
37purine nucleobase biosynthetic process (GO:0009113)3.34789145
38somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.34673826
39isotype switching (GO:0045190)3.34673826
40somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.34673826
41positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.34460493
42termination of RNA polymerase I transcription (GO:0006363)3.26827877
43DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.24596502
44metaphase plate congression (GO:0051310)3.23170396
45quinone biosynthetic process (GO:1901663)3.22913908
46anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.17931474
47signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.16565505
48signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.16565505
49signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.16565505
50transcription initiation from RNA polymerase I promoter (GO:0006361)3.14248530
51intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.13812553
52signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.13812553
53negative regulation of telomere maintenance (GO:0032205)3.13113696
54regulation of cellular amino acid metabolic process (GO:0006521)3.11555548
55negative regulation of ligase activity (GO:0051352)3.10058296
56negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.10058296
57histone exchange (GO:0043486)3.07226012
58DNA ligation (GO:0006266)3.06333496
59nucleobase biosynthetic process (GO:0046112)3.04009341
60protein localization to kinetochore (GO:0034501)3.01597907
61DNA excision (GO:0044349)3.00880019
62nucleotide-excision repair, DNA damage removal (GO:0000718)3.00880019
63GTP biosynthetic process (GO:0006183)2.99773902
64negative regulation of DNA-dependent DNA replication (GO:2000104)2.99440102
65ribonucleoprotein complex disassembly (GO:0032988)2.97875127
66transcription elongation from RNA polymerase III promoter (GO:0006385)2.97614122
67termination of RNA polymerase III transcription (GO:0006386)2.97614122
68DNA deamination (GO:0045006)2.96680308
69amino acid salvage (GO:0043102)2.96033893
70L-methionine salvage (GO:0071267)2.96033893
71L-methionine biosynthetic process (GO:0071265)2.96033893
72signal transduction involved in DNA integrity checkpoint (GO:0072401)2.95218092
73signal transduction involved in DNA damage checkpoint (GO:0072422)2.95218092
74signal transduction involved in cell cycle checkpoint (GO:0072395)2.95056607
75protein K11-linked ubiquitination (GO:0070979)2.94966578
76regulation of centriole replication (GO:0046599)2.93857604
77branched-chain amino acid catabolic process (GO:0009083)2.93475436
78mannosylation (GO:0097502)2.90001580
79regulation of nuclear cell cycle DNA replication (GO:0033262)2.88958502
80double-strand break repair via nonhomologous end joining (GO:0006303)2.86353403
81non-recombinational repair (GO:0000726)2.86353403
82positive regulation of ligase activity (GO:0051351)2.85736233
83intracellular protein transmembrane import (GO:0044743)2.85592455
84rRNA methylation (GO:0031167)2.84097976
85positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.83301844
86energy coupled proton transport, down electrochemical gradient (GO:0015985)2.82178207
87ATP synthesis coupled proton transport (GO:0015986)2.82178207
88respiratory chain complex IV assembly (GO:0008535)2.80513463
89response to X-ray (GO:0010165)2.79278786
90L-serine metabolic process (GO:0006563)2.75969199
91spindle checkpoint (GO:0031577)2.75508951
92male meiosis (GO:0007140)2.75382132
93protein localization to mitochondrion (GO:0070585)2.75111006
94lactate metabolic process (GO:0006089)2.75054458
95DNA replication checkpoint (GO:0000076)2.75004849
96tRNA processing (GO:0008033)2.74704082
97mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.74677706
98mitochondrial respiratory chain complex I assembly (GO:0032981)2.74677706
99NADH dehydrogenase complex assembly (GO:0010257)2.74677706
100tRNA metabolic process (GO:0006399)2.74301944

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.95204584
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.26140809
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.53842681
4ZNF274_21170338_ChIP-Seq_K562_Hela3.39857141
5MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.05765878
6IGF1R_20145208_ChIP-Seq_DFB_Human3.02230246
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.01588326
8VDR_22108803_ChIP-Seq_LS180_Human2.89908070
9ELK1_19687146_ChIP-ChIP_HELA_Human2.89413674
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.87424194
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.78814503
12ELF1_17652178_ChIP-ChIP_JURKAT_Human2.74322060
13E2F4_17652178_ChIP-ChIP_JURKAT_Human2.57827956
14FLI1_27457419_Chip-Seq_LIVER_Mouse2.57473311
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.46647557
16CREB1_15753290_ChIP-ChIP_HEK293T_Human2.37955383
17VDR_23849224_ChIP-Seq_CD4+_Human2.36961185
18NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.35336015
19EWS_26573619_Chip-Seq_HEK293_Human2.28797697
20ETS1_20019798_ChIP-Seq_JURKAT_Human2.13949877
21CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.07040758
22FOXP3_21729870_ChIP-Seq_TREG_Human2.06500684
23FUS_26573619_Chip-Seq_HEK293_Human2.04259483
24POU3F2_20337985_ChIP-ChIP_501MEL_Human2.02808572
25PCGF2_27294783_Chip-Seq_ESCs_Mouse2.01534272
26PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.97555198
27SALL1_21062744_ChIP-ChIP_HESCs_Human1.86474955
28SRF_21415370_ChIP-Seq_HL-1_Mouse1.86172809
29PADI4_21655091_ChIP-ChIP_MCF-7_Human1.78494147
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.76591750
31MYC_18555785_ChIP-Seq_MESCs_Mouse1.74470404
32P300_19829295_ChIP-Seq_ESCs_Human1.73329210
33TAF15_26573619_Chip-Seq_HEK293_Human1.69112809
34FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.66156517
35ER_23166858_ChIP-Seq_MCF-7_Human1.56763061
36MYC_18940864_ChIP-ChIP_HL60_Human1.55607279
37PCGF2_27294783_Chip-Seq_NPCs_Mouse1.54631692
38NOTCH1_21737748_ChIP-Seq_TLL_Human1.54600757
39FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.50907917
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.43802642
41POU5F1_16153702_ChIP-ChIP_HESCs_Human1.42709311
42MYC_19030024_ChIP-ChIP_MESCs_Mouse1.42272055
43CTBP2_25329375_ChIP-Seq_LNCAP_Human1.40923609
44YY1_21170310_ChIP-Seq_MESCs_Mouse1.38740079
45MYC_19079543_ChIP-ChIP_MESCs_Mouse1.38599330
46EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.37402062
47TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37099869
48YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.36489810
49CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.34273591
50MYC_18358816_ChIP-ChIP_MESCs_Mouse1.32823490
51PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.30422920
52GBX2_23144817_ChIP-Seq_PC3_Human1.28437331
53CTBP1_25329375_ChIP-Seq_LNCAP_Human1.27654760
54E2F1_18555785_ChIP-Seq_MESCs_Mouse1.27259574
55TTF2_22483619_ChIP-Seq_HELA_Human1.23130507
56GABP_19822575_ChIP-Seq_HepG2_Human1.22370431
57GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.21495344
58SOX2_19829295_ChIP-Seq_ESCs_Human1.21215469
59NANOG_19829295_ChIP-Seq_ESCs_Human1.21215469
60KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.20837221
61MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.20324914
62SUZ12_27294783_Chip-Seq_NPCs_Mouse1.19886219
63MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.18170680
64DCP1A_22483619_ChIP-Seq_HELA_Human1.18151812
65NANOG_16153702_ChIP-ChIP_HESCs_Human1.17508425
66IRF1_19129219_ChIP-ChIP_H3396_Human1.16929915
67HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.15549099
68EZH2_27294783_Chip-Seq_NPCs_Mouse1.12374273
69NFE2_27457419_Chip-Seq_LIVER_Mouse1.11203806
70CBP_20019798_ChIP-Seq_JUKART_Human1.10871970
71IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.10871970
72ELK1_22589737_ChIP-Seq_MCF10A_Human1.10819559
73TP53_22573176_ChIP-Seq_HFKS_Human1.10242393
74FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08449322
75FOXA1_25329375_ChIP-Seq_VCAP_Human1.08449322
76ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.06964774
77NELFA_20434984_ChIP-Seq_ESCs_Mouse1.02179180
78UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.01795748
79AUTS2_25519132_ChIP-Seq_293T-REX_Human1.01703227
80XRN2_22483619_ChIP-Seq_HELA_Human0.99414603
81KLF5_20875108_ChIP-Seq_MESCs_Mouse0.98707593
82POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.97534544
83MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.97375690
84GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96854379
85HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.96479961
86SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94571107
87FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.94096910
88TP63_19390658_ChIP-ChIP_HaCaT_Human0.94003141
89FOXA1_21572438_ChIP-Seq_LNCaP_Human0.93721920
90THAP11_20581084_ChIP-Seq_MESCs_Mouse0.93408732
91TOP2B_26459242_ChIP-Seq_MCF-7_Human0.93067460
92OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91616785
93SOX2_16153702_ChIP-ChIP_HESCs_Human0.89459811
94CRX_20693478_ChIP-Seq_RETINA_Mouse0.88659892
95AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.87687743
96CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.86943113
97HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.86653625
98TCF4_22108803_ChIP-Seq_LS180_Human0.86507885
99CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.86469163
100CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.86170208

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008058_abnormal_DNA_repair4.41706336
2MP0008877_abnormal_DNA_methylation3.64467494
3MP0003718_maternal_effect3.53408578
4MP0010094_abnormal_chromosome_stability2.88602805
5MP0008995_early_reproductive_senescence2.73293860
6MP0003195_calcinosis2.68010506
7MP0002102_abnormal_ear_morphology2.55249316
8MP0003011_delayed_dark_adaptation2.53748230
9MP0006054_spinal_hemorrhage2.26583883
10MP0004043_abnormal_pH_regulation2.10443780
11MP0003786_premature_aging2.09504991
12MP0004957_abnormal_blastocyst_morpholog2.05209554
13MP0003880_abnormal_central_pattern2.04257476
14MP0003315_abnormal_perineum_morphology2.01695759
15MP0002736_abnormal_nociception_after1.97219287
16MP0001529_abnormal_vocalization1.94693975
17MP0003693_abnormal_embryo_hatching1.93629471
18MP0006035_abnormal_mitochondrial_morpho1.82878179
19MP0006072_abnormal_retinal_apoptosis1.79654585
20MP0005253_abnormal_eye_physiology1.78791365
21MP0009697_abnormal_copulation1.69740838
22MP0005187_abnormal_penis_morphology1.69636259
23MP0005551_abnormal_eye_electrophysiolog1.67017543
24MP0001293_anophthalmia1.64635607
25MP0003183_abnormal_peptide_metabolism1.61437673
26MP0004885_abnormal_endolymph1.59283424
27MP0005084_abnormal_gallbladder_morpholo1.54792694
28MP0003186_abnormal_redox_activity1.53092100
29MP0003111_abnormal_nucleus_morphology1.52112584
30MP0000569_abnormal_digit_pigmentation1.51492621
31MP0006036_abnormal_mitochondrial_physio1.50596330
32MP0001968_abnormal_touch/_nociception1.43386011
33MP0002837_dystrophic_cardiac_calcinosis1.42810224
34MP0006276_abnormal_autonomic_nervous1.42282021
35MP0008932_abnormal_embryonic_tissue1.38963373
36MP0003077_abnormal_cell_cycle1.36288052
37MP0001984_abnormal_olfaction1.35875388
38MP0001764_abnormal_homeostasis1.34174888
39MP0003890_abnormal_embryonic-extraembry1.32064331
40MP0001905_abnormal_dopamine_level1.30548162
41MP0004147_increased_porphyrin_level1.29981648
42MP0004215_abnormal_myocardial_fiber1.29235488
43MP0005645_abnormal_hypothalamus_physiol1.27843175
44MP0005646_abnormal_pituitary_gland1.27373765
45MP0009764_decreased_sensitivity_to1.25353192
46MP0001486_abnormal_startle_reflex1.24659438
47MP0003119_abnormal_digestive_system1.24118002
48MP0001485_abnormal_pinna_reflex1.24094825
49MP0003937_abnormal_limbs/digits/tail_de1.23536059
50MP0004145_abnormal_muscle_electrophysio1.23241204
51MP0001929_abnormal_gametogenesis1.21276818
52MP0002751_abnormal_autonomic_nervous1.19487374
53MP0003638_abnormal_response/metabolism_1.16800431
54MP0000647_abnormal_sebaceous_gland1.16131235
55MP0003941_abnormal_skin_development1.15131721
56MP0005395_other_phenotype1.15120935
57MP0002735_abnormal_chemical_nociception1.14067110
58MP0008872_abnormal_physiological_respon1.13288690
59MP0003567_abnormal_fetal_cardiomyocyte1.12782147
60MP0005389_reproductive_system_phenotype1.12269380
61MP0008057_abnormal_DNA_replication1.12217474
62MP0000516_abnormal_urinary_system1.11381693
63MP0005367_renal/urinary_system_phenotyp1.11381693
64MP0001986_abnormal_taste_sensitivity1.10299410
65MP0002160_abnormal_reproductive_system1.09791006
66MP0002210_abnormal_sex_determination1.07258165
67MP0002254_reproductive_system_inflammat1.06782763
68MP0000653_abnormal_sex_gland1.06421286
69MP0003806_abnormal_nucleotide_metabolis1.05555366
70MP0005165_increased_susceptibility_to1.05406365
71MP0008007_abnormal_cellular_replicative1.04874742
72MP0002277_abnormal_respiratory_mucosa1.04430672
73MP0002272_abnormal_nervous_system1.03323469
74MP0002282_abnormal_trachea_morphology1.02302111
75MP0001919_abnormal_reproductive_system1.01983827
76MP0001145_abnormal_male_reproductive0.96647379
77MP0002138_abnormal_hepatobiliary_system0.93914047
78MP0009745_abnormal_behavioral_response0.92618074
79MP0008873_increased_physiological_sensi0.91642895
80MP0001177_atelectasis0.90776498
81MP0001501_abnormal_sleep_pattern0.89387262
82MP0004084_abnormal_cardiac_muscle0.88742793
83MP0000358_abnormal_cell_content/0.88596967
84MP0001119_abnormal_female_reproductive0.87652995
85MP0001188_hyperpigmentation0.87039465
86MP0005410_abnormal_fertilization0.84150088
87MP0004133_heterotaxia0.83749973
88MP0005167_abnormal_blood-brain_barrier0.79869818
89MP0008875_abnormal_xenobiotic_pharmacok0.79778468
90MP0000049_abnormal_middle_ear0.78883433
91MP0001324_abnormal_eye_pigmentation0.77504814
92MP0002184_abnormal_innervation0.75488651
93MP0003698_abnormal_male_reproductive0.75410592
94MP0004142_abnormal_muscle_tone0.70722783
95MP0002938_white_spotting0.70544244
96MP0005391_vision/eye_phenotype0.68236498
97MP0003646_muscle_fatigue0.63133594
98MP0006292_abnormal_olfactory_placode0.62620756
99MP0005647_abnormal_sex_gland0.62183545
100MP0005408_hypopigmentation0.61128881

Predicted human phenotypes

RankGene SetZ-score
1Methylmalonic acidemia (HP:0002912)3.61538930
23-Methylglutaconic aciduria (HP:0003535)3.43810867
3Acute necrotizing encephalopathy (HP:0006965)3.32179320
4Abnormality of the labia minora (HP:0012880)3.31182774
5Increased serum pyruvate (HP:0003542)3.21370213
6Acute encephalopathy (HP:0006846)3.12068725
7Pancreatic cysts (HP:0001737)3.00069640
8Type 2 muscle fiber atrophy (HP:0003554)3.00062395
9Abnormality of the pons (HP:0007361)2.96229973
10Methylmalonic aciduria (HP:0012120)2.92788844
11Cerebral hypomyelination (HP:0006808)2.91198277
12Increased CSF lactate (HP:0002490)2.84167484
13Progressive macrocephaly (HP:0004481)2.83047144
14Carpal bone hypoplasia (HP:0001498)2.82405534
15Meckel diverticulum (HP:0002245)2.78955477
16Abnormality of glycolysis (HP:0004366)2.78938698
17Mitochondrial inheritance (HP:0001427)2.78659126
18Abnormal biliary tract physiology (HP:0012439)2.71321289
19Bile duct proliferation (HP:0001408)2.71321289
20Hepatocellular necrosis (HP:0001404)2.70286752
21Abnormality of the ileum (HP:0001549)2.66616470
22Abnormal mitochondria in muscle tissue (HP:0008316)2.64328179
23Hepatic necrosis (HP:0002605)2.63143227
24Abnormality of alanine metabolism (HP:0010916)2.60756156
25Hyperalaninemia (HP:0003348)2.60756156
26Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.60756156
27Colon cancer (HP:0003003)2.59953595
28Pancreatic fibrosis (HP:0100732)2.57242848
29Abnormal protein glycosylation (HP:0012346)2.52191533
30Abnormal glycosylation (HP:0012345)2.52191533
31Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.52191533
32Abnormal protein N-linked glycosylation (HP:0012347)2.52191533
33Hypoplasia of the pons (HP:0012110)2.51293887
34Aplasia/Hypoplasia of the uvula (HP:0010293)2.48523965
35Increased serum lactate (HP:0002151)2.48390012
36Type I transferrin isoform profile (HP:0003642)2.46772919
37Gonadotropin excess (HP:0000837)2.45232390
38Lipid accumulation in hepatocytes (HP:0006561)2.43736647
39Muscle fiber atrophy (HP:0100295)2.34970252
40Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.33690668
41Decreased activity of mitochondrial respiratory chain (HP:0008972)2.33690668
42Abnormality of serum amino acid levels (HP:0003112)2.32600563
43Increased hepatocellular lipid droplets (HP:0006565)2.30086995
44Hypoproteinemia (HP:0003075)2.28572332
45Neonatal respiratory distress (HP:0002643)2.26251235
46True hermaphroditism (HP:0010459)2.25828087
47Abnormality of the vitamin B12 metabolism (HP:0004341)2.25116494
48CNS hypomyelination (HP:0003429)2.24759947
49Cerebral edema (HP:0002181)2.22025696
50Aplasia/Hypoplasia involving the musculature (HP:0001460)2.20593261
51Duodenal stenosis (HP:0100867)2.20570536
52Small intestinal stenosis (HP:0012848)2.20570536
53Intestinal atresia (HP:0011100)2.18340192
54Abnormality of chromosome stability (HP:0003220)2.17789265
55Postnatal microcephaly (HP:0005484)2.13658695
56Lactic acidosis (HP:0003128)2.11532288
57Lethargy (HP:0001254)2.10363985
58Abnormality of glycine metabolism (HP:0010895)2.08232151
59Abnormality of serine family amino acid metabolism (HP:0010894)2.08232151
60Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.07348585
61Short 1st metacarpal (HP:0010034)2.07348585
62Abnormality of vitamin B metabolism (HP:0004340)2.06220716
63Decreased electroretinogram (ERG) amplitude (HP:0000654)2.05707685
64Supernumerary spleens (HP:0009799)2.05003200
65Progressive inability to walk (HP:0002505)2.04698523
66Facial diplegia (HP:0001349)2.02100030
67Constricted visual fields (HP:0001133)2.01897248
68Abnormality of the duodenum (HP:0002246)1.99286893
69Hyperglycinemia (HP:0002154)1.98637898
70Abnormality of the preputium (HP:0100587)1.98421739
71Nephronophthisis (HP:0000090)1.97525748
72Hypomagnesemia (HP:0002917)1.97303403
73Disproportionate short-trunk short stature (HP:0003521)1.96742128
74Dyschromatopsia (HP:0007641)1.94499611
75Rhabdomyosarcoma (HP:0002859)1.93483529
76Posterior subcapsular cataract (HP:0007787)1.89829408
77Sloping forehead (HP:0000340)1.89710414
78Aplasia/hypoplasia of the humerus (HP:0006507)1.89694414
79Aplasia/Hypoplasia of the spleen (HP:0010451)1.88360571
80Oral leukoplakia (HP:0002745)1.88195189
81Choroideremia (HP:0001139)1.86629425
82Hyperglycinuria (HP:0003108)1.86229723
83Optic disc pallor (HP:0000543)1.85779273
84Abolished electroretinogram (ERG) (HP:0000550)1.84442540
85Inability to walk (HP:0002540)1.84095832
86Abnormality of the 1st metacarpal (HP:0010009)1.81678847
87Molar tooth sign on MRI (HP:0002419)1.81214094
88Abnormality of midbrain morphology (HP:0002418)1.81214094
89Stenosis of the external auditory canal (HP:0000402)1.79636677
90Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.79399209
91Delayed CNS myelination (HP:0002188)1.78342836
92Abnormality of the anterior horn cell (HP:0006802)1.77716453
93Degeneration of anterior horn cells (HP:0002398)1.77716453
94Asplenia (HP:0001746)1.77576531
95Abnormality of methionine metabolism (HP:0010901)1.74893669
96Medial flaring of the eyebrow (HP:0010747)1.74729502
97Abnormal lung lobation (HP:0002101)1.73837559
98Ependymoma (HP:0002888)1.73810762
99Dicarboxylic aciduria (HP:0003215)1.71165345
100Abnormality of dicarboxylic acid metabolism (HP:0010995)1.71165345

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SRPK14.16144735
2MAP4K23.36401062
3MKNK12.95427126
4TSSK62.93485245
5TRIM282.75074728
6VRK22.74341952
7MST42.71186261
8BUB12.53350281
9NEK12.39318970
10BRSK22.37157516
11PLK32.31164027
12WEE12.30474190
13VRK12.18170906
14EIF2AK32.17738995
15ZAK1.98779686
16TIE11.97595727
17MKNK21.96674138
18WNK31.88227841
19NUAK11.57505178
20TXK1.57319393
21PLK41.51412012
22TTK1.50130453
23PINK11.46803635
24PNCK1.43577766
25GRK11.41056857
26TAOK31.34721139
27PASK1.32706727
28BCR1.31230448
29MAP3K41.28183255
30ADRBK21.26266845
31NEK61.25669508
32TLK11.24921874
33BMPR1B1.22150708
34EIF2AK21.21368474
35FRK1.16066532
36ALK1.14207407
37CDC71.13047917
38PLK11.11720183
39WNK41.09409888
40BRSK11.05409871
41FLT31.02273629
42DYRK21.01773500
43PBK0.98580485
44MAP2K70.98433750
45EIF2AK10.98409480
46TGFBR10.96480168
47PLK20.92554716
48TEC0.91613827
49CSNK1G10.88618213
50MAPKAPK50.88344193
51NME10.85958684
52OXSR10.84425087
53STK160.83066821
54TAF10.80772338
55STK390.79956016
56TNIK0.79447951
57PIK3CG0.78876242
58TNK20.78798945
59MAP3K120.75600689
60ERBB30.74242006
61BCKDK0.74217602
62CSNK1G30.71559984
63CCNB10.66658136
64PRKCI0.64447396
65PRKCG0.63465146
66MAP3K140.62898786
67MARK10.62781431
68SIK30.60809729
69KIT0.57476429
70CSNK1G20.57383174
71CDK190.56170063
72IKBKB0.54682198
73CSNK1A1L0.54146431
74AURKB0.53303880
75CDK30.50613418
76CDK70.50101554
77NLK0.48981222
78MAPK130.48735574
79ACVR1B0.46516731
80MINK10.45646195
81CSNK2A10.44833297
82CDK80.43806513
83RPS6KA50.42016413
84STK38L0.41813234
85GRK60.41723397
86PRKCE0.39946093
87ADRBK10.38663840
88CSNK2A20.37586585
89IGF1R0.36844028
90INSRR0.36512053
91ATR0.36183970
92ATM0.35380451
93MUSK0.35075689
94ITK0.34035945
95FGFR10.33084365
96PAK40.31201557
97MAP3K130.26906009
98GRK50.25500104
99GRK70.25432720
100NME20.24551709

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.20554822
2Non-homologous end-joining_Homo sapiens_hsa034502.99862469
3Protein export_Homo sapiens_hsa030602.98838263
4Basal transcription factors_Homo sapiens_hsa030222.78243974
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.67083503
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.28509542
7Mismatch repair_Homo sapiens_hsa034302.27175467
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.21641347
9Homologous recombination_Homo sapiens_hsa034402.20216834
10RNA polymerase_Homo sapiens_hsa030202.18110124
11Nucleotide excision repair_Homo sapiens_hsa034202.10232351
12Propanoate metabolism_Homo sapiens_hsa006402.08960073
13Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.07075597
14One carbon pool by folate_Homo sapiens_hsa006702.04787278
15RNA degradation_Homo sapiens_hsa030182.03468940
16Oxidative phosphorylation_Homo sapiens_hsa001901.93652498
17Fanconi anemia pathway_Homo sapiens_hsa034601.90184998
18RNA transport_Homo sapiens_hsa030131.89907065
19Parkinsons disease_Homo sapiens_hsa050121.86952816
20Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.82787538
21DNA replication_Homo sapiens_hsa030301.71664816
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.70822316
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.65153849
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.62949833
25Cysteine and methionine metabolism_Homo sapiens_hsa002701.60013026
26Spliceosome_Homo sapiens_hsa030401.54154307
27Pyruvate metabolism_Homo sapiens_hsa006201.50310950
28Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.36039031
29Ribosome_Homo sapiens_hsa030101.35907793
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.35391968
31Asthma_Homo sapiens_hsa053101.34881450
32Base excision repair_Homo sapiens_hsa034101.33175667
33Butanoate metabolism_Homo sapiens_hsa006501.31084256
34Linoleic acid metabolism_Homo sapiens_hsa005911.16775869
35alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.15776799
36Tryptophan metabolism_Homo sapiens_hsa003801.15182160
37Huntingtons disease_Homo sapiens_hsa050161.08470810
38Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.08040947
39Fatty acid degradation_Homo sapiens_hsa000711.06343690
40Peroxisome_Homo sapiens_hsa041461.05607407
41Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.05387239
42Purine metabolism_Homo sapiens_hsa002301.02829891
43Pyrimidine metabolism_Homo sapiens_hsa002400.97329175
44Type I diabetes mellitus_Homo sapiens_hsa049400.96852818
45Intestinal immune network for IgA production_Homo sapiens_hsa046720.94763520
46Phototransduction_Homo sapiens_hsa047440.93396004
47Nicotine addiction_Homo sapiens_hsa050330.92937264
48Fatty acid elongation_Homo sapiens_hsa000620.90075297
49Alzheimers disease_Homo sapiens_hsa050100.87130090
50Selenocompound metabolism_Homo sapiens_hsa004500.86860065
51Regulation of autophagy_Homo sapiens_hsa041400.85494671
52Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.84500395
53Cell cycle_Homo sapiens_hsa041100.84153451
54Steroid biosynthesis_Homo sapiens_hsa001000.83877925
55Nitrogen metabolism_Homo sapiens_hsa009100.83042948
56Pentose and glucuronate interconversions_Homo sapiens_hsa000400.82665745
57Retinol metabolism_Homo sapiens_hsa008300.78244666
58Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.77436043
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.76943705
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.76448169
61Autoimmune thyroid disease_Homo sapiens_hsa053200.71554092
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70063242
63Ether lipid metabolism_Homo sapiens_hsa005650.69677425
64Allograft rejection_Homo sapiens_hsa053300.69522963
65N-Glycan biosynthesis_Homo sapiens_hsa005100.69321040
66Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.67449864
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.63086966
68beta-Alanine metabolism_Homo sapiens_hsa004100.62353213
69Metabolic pathways_Homo sapiens_hsa011000.61414496
70Fatty acid metabolism_Homo sapiens_hsa012120.61093909
71Fatty acid biosynthesis_Homo sapiens_hsa000610.60830673
72Cyanoamino acid metabolism_Homo sapiens_hsa004600.60691908
73Vitamin B6 metabolism_Homo sapiens_hsa007500.59879550
74Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.59728634
75p53 signaling pathway_Homo sapiens_hsa041150.59246903
76Oocyte meiosis_Homo sapiens_hsa041140.58048012
77Biosynthesis of amino acids_Homo sapiens_hsa012300.57310459
78mRNA surveillance pathway_Homo sapiens_hsa030150.56146874
79Vitamin digestion and absorption_Homo sapiens_hsa049770.55490379
80Carbon metabolism_Homo sapiens_hsa012000.55163995
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.55003316
82Sulfur metabolism_Homo sapiens_hsa009200.53127136
83Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.52277029
84Glycerolipid metabolism_Homo sapiens_hsa005610.46086736
85Olfactory transduction_Homo sapiens_hsa047400.43873556
86Caffeine metabolism_Homo sapiens_hsa002320.42792397
87Graft-versus-host disease_Homo sapiens_hsa053320.42680118
88Antigen processing and presentation_Homo sapiens_hsa046120.42538428
89Arachidonic acid metabolism_Homo sapiens_hsa005900.40594486
90Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.38941508
91Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36897616
92Fat digestion and absorption_Homo sapiens_hsa049750.34377626
93Legionellosis_Homo sapiens_hsa051340.32485652
94Arginine and proline metabolism_Homo sapiens_hsa003300.32207491
95Serotonergic synapse_Homo sapiens_hsa047260.31911588
96Glutathione metabolism_Homo sapiens_hsa004800.31820354
97Chemical carcinogenesis_Homo sapiens_hsa052040.29915322
98Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29738180
99Morphine addiction_Homo sapiens_hsa050320.28897586
100Arginine biosynthesis_Homo sapiens_hsa002200.28770362

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