AutismKB 2.0

Evidence Details for SSC5D


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Basic Information Top
Gene Symbol:SSC5D ( - )
Gene Full Name: -
Band: 19q13.42
Quick LinksEntrez ID:284297; OMIM: NA; Uniprot ID:B5MDQ5_HUMAN; ENSEMBL ID: ENSG00000179954; HGNC ID: 26641
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SSC5D|284297|nucleotide
ATGAGGGTCTTGGCCTGCCTCCTTGCGGCCCTGGTGGGGATCCAGGCTGTTGAGCGCCTGCGCCTGGCCGATGGCCCCCATGGGTGCGCTGGCCGCCTGGAGGTC
TGGCATGGCGGGCGCTGGGGCACCGTGTGTGATGACGGCTGGGACCTGCGCGATGCCGCCGTGGCCTGCCGGCAGCTGGGCTGCGGAGGGGCACTGGCCGCCCCG
GGAGGCGCCTTCTTCGGGGAGGGGGCAGGGCCTGTGTGGCTCAGCGAGCTGGCTTGCCGGGGCAACGAGGGGCAGCTGGGCCTCTGCCACCACCGGGGCTGGAAG
GCCCACATCTGCTCCCACGAGGAGGACGCGGGCGTCGTCTGCGCAGGTCAGCGTGTGGCTAACTCCAGGGACGACTCAACATCTCCCCTGGATGGGGCTCCCTGG
CCAGGGCTGTTGCTGGAGCTGAGCCCCAGCACGGAGGAGCCCCTGGTGACACATGCCCCCCGCCCAGCTGGGAACCCCCAGAACGCCTCCCGGAAGAAGAGCCCC
CGGCCCAAGCAGGCCAAGTCCACCCGGGCCCCTCTGCTGACGACAGGAGCCCCCCGCCAAGAGCGGCTGCGCCTGGTCTCTGGCCCCCACAGGTGCGCCGGACGC
CTGGAGGTCTGGCACGGCGGGCGCTGGGGCACCGTATGTGACGATGGCTGGGACCTGCGCGACGCTGCTGTAGCCTGCCGGGAACTGGGCTGTGGGGGGGCGCTG
GCTGCCCCCGGCGGTGCCAGATTCGGGCCTGGTGCAGGGCCCGTGTGGATGGACGATGTGGGGTGTGGAGGAGGAGAACAGGCCCTCCGAGACTGCCCCCGAAGC
CCCTGGGGCCGGAGCAACTGTGACCACAGCGAGGATGCGGGGCTGGTCTGCACCGGCCCAGCACCTCGGCTGCGCCTGGCCGATGGCCCCCACGGGTGCGCCGGC
CGCCTGGAGGTCTGGCACGGGGGTCGCTGGGGGTCGGTGTGTGACGACGCCTGGGACCTGCGAGACGCCGCTGTGGCCTGCCGAGAGCTGGGCTGCGGAGGGGCG
CTGGCCGCCCCCGGGGGCGCCTTCTTTGGGGAGGGGTCTGGACCCATCATCCTGGACGACCTTCGGTGTCGGGGAAACGAGACGGCCTTACGATTCTGCCCAGCT
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>SSC5D|284297|protein
MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACRGNEGQLGLCHHRGWK
AHICSHEEDAGVVCAGQRVANSRDDSTSPLDGAPWPGLLLELSPSTEEPLVTHAPRPAGNPQNASRKKSPRPKQAKSTRAPLLTTGAPRQERLRLVSGPHRCAGR
LEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGAGPVWMDDVGCGGGEQALRDCPRSPWGRSNCDHSEDAGLVCTGPAPRLRLADGPHGCAG
RLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGSGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGYVPPTAPTDSN
NSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGSPQLRLVAGPSKCSGRLEVWHDQRWGTVCDDSWDMRDSAVVCRELGCGGPQQPDPAAGRFGW
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (4)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top