AutismKB 2.0

Evidence Details for PPIC


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Basic Information Top
Gene Symbol:PPIC ( CYPC,MGC3673 )
Gene Full Name: peptidylprolyl isomerase C (cyclophilin C)
Band: 5q23.2
Quick LinksEntrez ID:5480; OMIM: 123842; Uniprot ID:PPIC_HUMAN; ENSEMBL ID: ENSG00000168938; HGNC ID: 9256
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPIC|5480|nucleotide
ATGGGCCCGGGTCCTCGGCTGCTGCTACCTCTCGTGCTTTGCGTGGGGCTCGGCGCACTTGTGTTTTCTTCGGGGGCCGAGGGCTTCCGCAAGCGAGGCCCCTCG
GTGACGGCCAAGGTCTTCTTTGATGTGAGGATTGGAGACAAAGATGTTGGCAGAATTGTGATTGGCCTCTTTGGAAAAGTTGTGCCCAAGACAGTGGAAAATTTT
GTTGCTCTAGCAACAGGAGAGAAAGGATATGGATATAAAGGAAGCAAGTTTCATCGTGTCATCAAGGATTTCATGATTCAAGGAGGTGACATCACCACTGGAGAT
GGCACTGGGGGTGTGAGCATCTATGGTGAGACATTTCCAGATGAGAACTTCAAGCTGAAGCACTATGGCATTGGGTGGGTCAGCATGGCCAACGCTGGGCCTGAC
ACCAATGGCTCTCAGTTCTTTATCACCTTGACCAAGCCCACCTGGTTGGACGGCAAACATGTGGTGTTTGGAAAAGTCATTGATGGGATGACAGTGGTGCACTCC
ATAGAGCTCCAAGCAACTGATGGGCATGACCGTCCACTCACCAACTGCTCGATCATCAACAGTGGCAAGATAGACGTGAAAACGCCTTTTGTGGTTGAGATCGCT
GATTGGTGA




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>PPIC|5480|protein
MGPGPRLLLPLVLCVGLGALVFSSGAEGFRKRGPSVTAKVFFDVRIGDKDVGRIVIGLFGKVVPKTVENFVALATGEKGYGYKGSKFHRVIKDFMIQGGDITTGD
GTGGVSIYGETFPDENFKLKHYGIGWVSMANAGPDTNGSQFFITLTKPTWLDGKHVVFGKVIDGMTVVHSIELQATDGHDRPLTNCSIINSGKIDVKTPFVVEIA
DW


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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 (0) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Ma, 2007 USA SNP-based genomic screenautism 26 - 26 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
1.09266 Up 0.0336889
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 204517_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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