AutismKB 2.0

Evidence Details for SNAPC4


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Basic Information Top
Gene Symbol:SNAPC4 ( FLJ13451,PTFalpha,SNAP190 )
Gene Full Name: small nuclear RNA activating complex, polypeptide 4, 190kDa
Band: 9q34.3
Quick LinksEntrez ID:6621; OMIM: 602777; Uniprot ID:SNPC4_HUMAN; ENSEMBL ID: ENSG00000165684; HGNC ID: 11137
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNAPC4|6621|nucleotide
ATGGATGTAGATGCTGAAAGAGAGAAGATAACACAGGAGATCAAGGAGCTGGAAAGGATTTTGGATCCCGGCTCCTCGGGCTCCCACGTGGAGATCTCAGAATCA
AGTCTCGAGTCAGATTCTGAAGCAGATTCACTGCCTTCTGAGGACTTGGATCCTGCCGATCCCCCGATCTCGGAAGAAGAAAGGTGGGGCGAAGCCAGCAATGAC
GAGGACGATCCCAAGGATAAAACCCTCCCTGAAGACCCAGAAACCTGCCTGCAGCTGAACATGGTCTACCAGGAGGTCATCCAGGAGAAGCTGGCTGAGGCCAAC
CTGCTGCTGGCCCAGAACCGGGAGCAGCAGGAGGAACTCATGAGGGATCTGGCTGGGTCCAAAGGCACCAAGGTGAAAGATGGCAAAAGCCTGCCCCCAAGCACA
TACATGGGGCACTTCATGAAGCCGTATTTCAAGGACAAGGTCACGGGCGTGGGGCCACCTGCCAACGAGGACACACGAGAGAAGGCTGCCCAGGGGATCAAGGCT
TTCGAGGAGCTCCTTGTGACCAAATGGAAAAACTGGGAAAAGGCCTTGCTCCGAAAGTCAGTGGTGAGTGACCGCCTGCAGCGATTGCTTCAGCCCAAGTTACTG
AAGCTCGAGTACTTGCACCAGAAGCAGAGCAAAGTCTCCAGTGAGCTGGAGAGGCAAGCCCTGGAGAAGCAGGGCAGGGAAGCCGAGAAGGAGATCCAGGACATC
AACCAGCTTCCAGAAGAGGCCTTGCTGGGAAACAGGCTGGACAGCCACGACTGGGAGAAGATTTCCAATATTAACTTTGAAGGCAGCCGCAGTGCAGAGGAGATC
CGGAAGTTCTGGCAGAACTCGGAGCACCCCAGCATCAACAAGCAGGAGTGGAGCAGGGAGGAGGAGGAGCGGCTGCAGGCGATCGCGGCTGCACACGGCCACCTG
GAGTGGCAGAAGATTGCAGAGGAGCTGGGGACCAGCCGCAGCGCCTTCCAGTGCCTGCAGAAATTCCAGCAGCACAACAAAGCTCTGAAACGCAAGGAGTGGACA
GAGGAGGAGGACCGCATGCTCACGCAGCTGGTGCAGGAGATGCGCGTCGGCAGCCACATCCCCTACCGCAGAATTGTCTACTATATGGAAGGGAGAGACTCCATG
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>SNAPC4|6621|protein
MDVDAEREKITQEIKELERILDPGSSGSHVEISESSLESDSEADSLPSEDLDPADPPISEEERWGEASNDEDDPKDKTLPEDPETCLQLNMVYQEVIQEKLAEAN
LLLAQNREQQEELMRDLAGSKGTKVKDGKSLPPSTYMGHFMKPYFKDKVTGVGPPANEDTREKAAQGIKAFEELLVTKWKNWEKALLRKSVVSDRLQRLLQPKLL
KLEYLHQKQSKVSSELERQALEKQGREAEKEIQDINQLPEEALLGNRLDSHDWEKISNINFEGSRSAEEIRKFWQNSEHPSINKQEWSREEEERLQAIAAAHGHL
EWQKIAEELGTSRSAFQCLQKFQQHNKALKRKEWTEEEDRMLTQLVQEMRVGSHIPYRRIVYYMEGRDSMQLIYRWTKSLDPGLKKGYWAPEEDAKLLQAVAKYG
EQDWFKIREEVPGRSDAQCRDRYLRRLHFSLKKGRWNLKEEEQLIELIEKYGVGHWAKIASELPHRSGSQCLSKWKIMMGKKQGLRRRRRRARHSVRWSSTSSSG
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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 (2) 1 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (6)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top