AutismKB 2.0

Evidence Details for PRKCE


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Basic Information Top
Gene Symbol:PRKCE ( MGC125656,MGC125657,PKCE,nPKC-epsilon )
Gene Full Name: protein kinase C, epsilon
Band: 2p21
Quick LinksEntrez ID:5581; OMIM: 176975; Uniprot ID:KPCE_HUMAN; ENSEMBL ID: ENSG00000171132; HGNC ID: 9401
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRKCE|5581|nucleotide
ATGGTAGTGTTCAATGGCCTTCTTAAGATCAAAATCTGCGAGGCCGTGAGCTTGAAGCCCACAGCCTGGTCGCTGCGCCATGCGGTGGGACCCCGGCCGCAGACT
TTCCTTCTCGACCCCTACATTGCCCTCAATGTGGACGACTCGCGCATCGGCCAAACGGCCACCAAGCAGAAGACCAACAGCCCGGCCTGGCACGACGAGTTCGTC
ACCGATGTGTGCAACGGACGCAAGATCGAGCTGGCTGTCTTTCACGATGCCCCCATAGGCTACGACGACTTCGTGGCCAACTGCACCATCCAGTTTGAGGAGCTG
CTGCAGAACGGGAGCCGCCACTTCGAGGACTGGATTGATCTGGAGCCAGAAGGAAGAGTGTATGTGATCATCGATCTCTCAGGGTCGTCGGGTGAAGCCCCTAAA
GACAATGAAGAGCGTGTGTTCAGGGAACGCATGCGGCCGAGGAAGCGGCAGGGGGCCGTCAGGCGCAGGGTCCATCAGGTCAACGGCCACAAGTTCATGGCCACC
TATCTTCGGCAGCCCACCTACTGCTCCCATTGCAGAGACTTCATCTGGGGTGTCATAGGAAAGCAGGGATACCAGTGTCAAGTCTGCACCTGCGTGGTCCACAAG
CGGTGCCACGAGCTCATAATCACAAAGTGTGCTGGGTTAAAGAAGCAGGAGACCCCCGACCAGGTGGGCTCCCAGCGGTTCAGCGTCAACATGCCCCACAAGTTC
GGTATCCACAACTACAAGGTCCCTACCTTCTGCGATCACTGTGGGTCCCTGCTCTGGGGACTCTTGCGGCAGGGTTTGCAGTGTAAAGTCTGCAAAATGAATGTT
CACCGTCGATGTGAGACCAACGTGGCTCCCAACTGTGGAGTGGATGCCAGAGGAATCGCCAAAGTACTGGCCGACCTGGGCGTTACCCCAGACAAAATCACCAAC
AGCGGCCAGAGAAGGAAAAAGCTCATTGCTGGTGCCGAGTCCCCGCAGCCTGCTTCTGGAAGCTCACCATCTGAGGAAGATCGATCCAAGTCAGCACCCACCTCC
CCTTGTGACCAGGAAATAAAAGAACTTGAGAACAACATTCGGAAAGCCTTGTCATTTGACAACCGAGGAGAGGAGCACCGGGCAGCATCGTCTCCTGATGGCCAG
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>PRKCE|5581|protein
MVVFNGLLKIKICEAVSLKPTAWSLRHAVGPRPQTFLLDPYIALNVDDSRIGQTATKQKTNSPAWHDEFVTDVCNGRKIELAVFHDAPIGYDDFVANCTIQFEEL
LQNGSRHFEDWIDLEPEGRVYVIIDLSGSSGEAPKDNEERVFRERMRPRKRQGAVRRRVHQVNGHKFMATYLRQPTYCSHCRDFIWGVIGKQGYQCQVCTCVVHK
RCHELIITKCAGLKKQETPDQVGSQRFSVNMPHKFGIHNYKVPTFCDHCGSLLWGLLRQGLQCKVCKMNVHRRCETNVAPNCGVDARGIAKVLADLGVTPDKITN
SGQRRKKLIAGAESPQPASGSSPSEEDRSKSAPTSPCDQEIKELENNIRKALSFDNRGEEHRAASSPDGQLMSPGENGEVRQGQAKRLGLDEFNFIKVLGKGSFG
KVMLAELKGKDEVYAVKVLKKDVILQDDDVDCTMTEKRILALARKHPYLTQLYCCFQTKDRLFFVMEYVNGGDLMFQIQRSRKFDEPRSRFYAAEVTSALMFLHQ
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (1) 0 (3) 0 (0) 0 (0) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 2 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
ASIAN
Cho, 2011_1 - FUJIFLM DNA Whole Blood Kit S and QuickGene 810 42 42
(-)		ASD 77.7±22.6 months
(49-149) months		 46.2±12.2
(31-65)
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)		 ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)		 Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)		-autism 16
(6.25%)		 0.7152 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1717799
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)		-autism 6
(0.00%)		 0.777998 Down 0.100372
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1717799
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)		 ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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