AutismKB 2.0

Evidence Details for VPS13C


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Basic Information Top
Gene Symbol:VPS13C ( DKFZp686E0570,FLJ21361 )
Gene Full Name: vacuolar protein sorting 13 homolog C (S. cerevisiae)
Band: 15q22.2
Quick LinksEntrez ID:54832; OMIM: 608879; Uniprot ID:VP13C_HUMAN; ENSEMBL ID: ENSG00000129003; HGNC ID: 23594
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VPS13C|54832|nucleotide
ATGGTGCTGGAGTCGGTGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGCATCTGGGGCGGAAAT
GTGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGCCAAATTGATAAATTAACTTTGAAGATTCCT
TGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTTGTCCCTGGAGCAAGTATTAAGTATGATGCTGTAAAAGAAGAAAAA
TCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAAGCCCTTCAAAAAGCAGCAGAAAAAGGCACACATTCAGGGGAGTTCATATATGGCTTGGAG
AACTTTGTTTACAAGGACATCAAGCCTGGACGTAAACGTAAAAAGCACAAAAAACATTTTAAGAAACCTTTTAAAGGTCTTGATCGTTCAAAAGATAAGCCAAAA
GAAGCCAAAAAGGATACATTTGTGGAAAAATTGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACT
GATCCAAAGCGGCCTCTTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATT
ATATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGGATCAGCTGAAAAAT
GAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCTACATGAATCCTTATGCAGAATCAGAGCTC
AAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAACCTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGGATTAT
ATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCACTTCATACCAATGGTCGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCAT
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>VPS13C|54832|protein
MVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAGQIDKLTLKIPWKNLYGEAVVATLEGLYLLVVPGASIKYDAVKEEK
SLQDVKQKELSRIEEALQKAAEKGTHSGEFIYGLENFVYKDIKPGRKRKKHKKHFKKPFKGLDRSKDKPKEAKKDTFVEKLATQVIKNVQVKITDIHIKYEDDVT
DPKRPLSFGVTLGELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCSMSYQRSREQILDQLKNEILTSGNIPPNYQYIFQPISASAKLYMNPYAESEL
KTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKYKPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQLLKSYKIAYKNKLTQSK
VSEEIQKEIQDLEKTLDVFNIILARQQAQVEVIRSGQKLRKKSADTGEKRGGWFSGLWGKKESKKKDEESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPK
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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) 1 (3) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top