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