AutismKB 2.0

Evidence Details for TRAPPC10


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Basic Information Top
Gene Symbol:TRAPPC10 ( EHOC-1,EHOC1,FLJ54223,FLJ54817,FLJ55683,GT334,MGC126777,TMEM1,TRS130,TRS30 )
Gene Full Name: trafficking protein particle complex 10
Band: 21q22.3
Quick LinksEntrez ID:7109; OMIM: 602103; Uniprot ID:TPC10_HUMAN; ENSEMBL ID: ENSG00000160218; HGNC ID: 11868
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRAPPC10|7109|nucleotide
ATGGACGCCTCTGAGGAGCCGCTGCCGCCGGTGATCTACACCATGGAGAACAAGCCCATCGTCACCTGTGCTGGAGATCAGAATTTATTTACCTCTGTTTATCCA
ACGCTCTCTCAGCAGCTTCCAAGAGAACCAATGGAATGGAGAAGGTCCTATGGCCGGGCTCCGAAGATGATTCACCTAGAGTCTAACTTTGTTCAATTCAAAGAG
GAGCTGCTGCCCAAAGAAGGAAACAAAGCTCTGCTCACGTTTCCCTTCCTCCATATTTACTGGACAGAGTGCTGTGATACCGAAGTGTATAAAGCTACAGTAAAA
GATGACCTCACCAAGTGGCAGAATGTTCTGAAGGCTCATAGCTCTGTGGACTGGTTAATAGTGATAGTTGAAAATGATGCCAAGAAAAAAAACAAAACCAACATC
CTTCCCCGAACCTCTATTGTGGACAAAATAAGAAATGATTTTTGTAATAAACAGAGTGACAGGTGTGTTGTGCTCTCCGACCCCTTGAAGGACTCTTCTCGAACT
CAGGAATCCTGGAATGCCTTCCTGACCAAACTCAGGACATTGCTTCTTATGTCTTTTACCAAAAACCTAGGCAAGTTTGAGGATGACATGAGAACCTTGAGGGAG
AAGAGGACTGAGCCAGGCTGGAGCTTTTGTGAATATTTCATGGTTCAGGAGGAGCTTGCCTTTGTTTTCGAGATGCTGCAGCAGTTCGAGGACGCCCTGGTGCAG
TACGACGAACTGGACGCCCTCTTCTCTCAGTATGTGGTCAACTTCGGGGCCGGGGATGGTGCCAACTGGCTGACTTTTTTCTGCCAGCCAGTGAAGAGCTGGAAC
GGATTGATCCTCCGAAAACCCATAGATATGGAGAAGCGGGAATCGATCCAGAGGCGAGAAGCCACCCTGTTAGATCTGCGCAGTTACCTGTTCTCTCGCCAGTGC
ACCTTGCTGCTCTTCCTGCAGAGGCCGTGGGAGGTGGCCCAGCGCGCCCTAGAGCTGCTGCACAACTGCGTGCAGGAACTGAAGCTCTTAGAAGTCTCTGTCCCA
CCTGGTGCTCTGGACTGCTGGGTGTTTCTGAGCTGTCTGGAGGTGTTGCAGAGGATAGAAGGCTGCTGTGACCGGGCACAGATCGACTCAAACATTGCCCACACT
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>TRAPPC10|7109|protein
MDASEEPLPPVIYTMENKPIVTCAGDQNLFTSVYPTLSQQLPREPMEWRRSYGRAPKMIHLESNFVQFKEELLPKEGNKALLTFPFLHIYWTECCDTEVYKATVK
DDLTKWQNVLKAHSSVDWLIVIVENDAKKKNKTNILPRTSIVDKIRNDFCNKQSDRCVVLSDPLKDSSRTQESWNAFLTKLRTLLLMSFTKNLGKFEDDMRTLRE
KRTEPGWSFCEYFMVQEELAFVFEMLQQFEDALVQYDELDALFSQYVVNFGAGDGANWLTFFCQPVKSWNGLILRKPIDMEKRESIQRREATLLDLRSYLFSRQC
TLLLFLQRPWEVAQRALELLHNCVQELKLLEVSVPPGALDCWVFLSCLEVLQRIEGCCDRAQIDSNIAHTVGLWSYATEKLKSLGYLCGLVSEKGPNSEDLNRTV
DLLAGLGAERPETANTAQSPYKKLKEALSSVEAFEKHYLDLSHATIEMYTSIGRIRSAKFVGKDLAEFYMRKKAPQKAEIYLQGALKNYLAEGWALPITHTRKQL
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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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