AutismKB 2.0

Evidence Details for DSCAM


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Basic Information Top
Gene Symbol:DSCAM ( CHD2-42,CHD2-52 )
Gene Full Name: Down syndrome cell adhesion molecule
Band: 21q22.2
Quick LinksEntrez ID:1826; OMIM: 602523; Uniprot ID:DSCAM_HUMAN; ENSEMBL ID: ENSG00000171587; HGNC ID: 3039
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DSCAM|1826|nucleotide
ATGTGGATACTGGCTCTCTCCTTGTTCCAGAGCTTCGCGAATGTTTTCAGTGAAGACCTACACTCCAGCCTCTACTTTGTCAATGCATCTCTGCAAGAGGTAGTG
TTTGCCAGCACCACGGGGACTCTGGTGCCCTGCCCCGCAGCAGGCATCCCTCCTGTGACTCTCAGATGGTACCTAGCCACGGGCGAGGAGATCTACGATGTCCCC
GGGATCCGCCACGTCCACCCCAACGGCACTCTCCAAATTTTCCCCTTCCCTCCTTCAAGCTTCAGTACCTTAATCCATGATAATACTTATTATTGCACAGCTGAA
AATCCTTCAGGGAAAATTAGAAGTCAGGATGTCCACATCAAGGCTGTTTTACGGGAGCCCTATACAGTCCGTGTGGAGGACCAGAAAACCATGAGAGGCAATGTT
GCGGTCTTCAAGTGCATTATCCCCTCCTCGGTGGAGGCGTACATCACTGTCGTCTCATGGGAGAAAGACACTGTTTCACTTGTCTCAGGATCTAGATTTCTCATC
ACATCCACGGGAGCCTTGTATATTAAAGATGTACAGAATGAAGATGGATTGTATAACTACCGCTGCATCACGCGGCATCGATACACCGGAGAGACGAGGCAGAGC
AACAGCGCCAGACTTTTTGTATCAGACCCAGCGAACTCAGCCCCATCCATACTGGATGGGTTTGACCATCGCAAAGCCATGGCTGGGCAGCGTGTGGAGCTGCCT
TGCAAAGCGCTCGGGCACCCTGAGCCAGATTACCGCTGGCTGAAGGACAACATGCCCCTGGAACTTTCAGGGAGGTTCCAGAAGACCGTGACGGGGCTGCTCATT
GAGAACATTCGCCCCTCGGACTCAGGCAGCTATGTTTGTGAAGTGTCCAACAGATACGGAACTGCTAAGGTGATAGGCCGCCTGTACGTGAAACAGCCACTGAAA
GCCACCATCAGTCCCAGGAAGGTTAAAAGCAGCGTGGGTAGCCAAGTTTCCTTGTCCTGCAGCGTGACAGGAACTGAGGACCAGGAACTCTCCTGGTACCGCAAT
GGTGAAATCCTCAACCCTGGAAAAAATGTGAGGATCACAGGGATCAACCACGAAAACCTTATAATGGATCACATGGTCAAAAGTGACGGGGGCGCATACCAGTGC
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>DSCAM|1826|protein
MWILALSLFQSFANVFSEDLHSSLYFVNASLQEVVFASTTGTLVPCPAAGIPPVTLRWYLATGEEIYDVPGIRHVHPNGTLQIFPFPPSSFSTLIHDNTYYCTAE
NPSGKIRSQDVHIKAVLREPYTVRVEDQKTMRGNVAVFKCIIPSSVEAYITVVSWEKDTVSLVSGSRFLITSTGALYIKDVQNEDGLYNYRCITRHRYTGETRQS
NSARLFVSDPANSAPSILDGFDHRKAMAGQRVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYGTAKVIGRLYVKQPLK
ATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNVRITGINHENLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSP
AEPVSLMCNVKGTPLPTITWTLDDDPILKGGSHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHC
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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) 0 (0) 0 (0) 0 (0) 1 (6) 1 (2) 1 (1) 0 (0) 21 (11)
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
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top