AutismKB 2.0

Evidence Details for SH2D3C


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Basic Information Top
Gene Symbol:SH2D3C ( CHAT,FLJ39664,NSP3,PRO34088 )
Gene Full Name: SH2 domain containing 3C
Band: 9q34.11
Quick LinksEntrez ID:10044; OMIM: 604722; Uniprot ID:SH2D3_HUMAN; ENSEMBL ID: ENSG00000095370; HGNC ID: 16884
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SH2D3C|10044|nucleotide
ATGAAGCGGCGCAGCGTCACCATGACCGATGGGCTCACTGCTGACAAGGTCACCCGCAGCGATGGCTGCCCCACCAGTACGTCGCTGCCCCGCCCTCGGGACTCC
ATCCGCAGCTGTGCCCTCAGCATGGACCAGATCCCAGACCTGCACTCACCCATGTCGCCCATCTCCGAGAGCCCTAGCTCCCCTGCCTACAGCACTGTAACCCGT
GTCCATGCCGCCCCTGCAGCCCCTTCTGCCACAGCATTGCCTGCCTCCCCTGTCGCCCGCCGTTCCAGTGAGCCCCAGCTGTGTCCCGGAAGTGCCCCAAAGACC
CATGGGGAGTCAGACAAGGGCCCCCACACCAGCCCCTCCCACACCCTTGGCAAGGCCTCCCCGTCACCATCACTCAGCAGCTACAGTGACCCGGACTCTGGCCAC
TACTGCCAGCTCCAGCCTCCCGTGCGTGGCAGCCGAGAGTGGGCAGCGACTGAGACCTCCAGCCAGCAGGCCAGGAGCTATGGGGAGAGGCTAAAGGAACTGTCA
GAAAATGGGGCCCCTGAAGGGGACTGGGGCAAGACCTTCACAGTCCCCATCGTGGAAGTCACTTCTTCCTTCAACCCGGCCACCTTCCAGTCACTACTGATCCCC
AGGGATAACCGGCCACTGGAGGTGGGCCTTCTGCGCAAGGTCAAGGAGCTGCTGGCAGAAGTGGATGCCCGGACGCTGGCCCGGCATGTCACCAAGGTGGACTGC
CTGGTTGCTAGGATACTGGGCGTTACCAAGGAGATGCAGACCCTAATGGGAGTCCGCTGGGGCATGGAACTGCTCACCCTCCCCCATGGCCGGCAGCTACGCCTA
GACCTGCTGGAAAGGTTCCACACCATGTCCATCATGCTGGCCGTGGACATCCTGGGCTGCACCGGCTCTGCGGAGGAGCGGGCAGCGCTGCTGCACAAGACCATT
CAGCTGGCGGCCGAGCTGCGGGGGACTATGGGCAACATGTTCAGCTTCGCGGCGGTCATGGGTGCCCTGGACATGGCCCAGATTTCTCGGCTGGAGCAGACATGG
GTGACCCTGCGGCAGCGACACACAGAGGGTGCCATCCTGTACGAGAAGAAGCTCAAGCCTTTTCTCAAGAGCCTCAACGAGGGCAAAGAAGGCCCGCCGCTGAGC
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>SH2D3C|10044|protein
MKRRSVTMTDGLTADKVTRSDGCPTSTSLPRPRDSIRSCALSMDQIPDLHSPMSPISESPSSPAYSTVTRVHAAPAAPSATALPASPVARRSSEPQLCPGSAPKT
HGESDKGPHTSPSHTLGKASPSPSLSSYSDPDSGHYCQLQPPVRGSREWAATETSSQQARSYGERLKELSENGAPEGDWGKTFTVPIVEVTSSFNPATFQSLLIP
RDNRPLEVGLLRKVKELLAEVDARTLARHVTKVDCLVARILGVTKEMQTLMGVRWGMELLTLPHGRQLRLDLLERFHTMSIMLAVDILGCTGSAEERAALLHKTI
QLAAELRGTMGNMFSFAAVMGALDMAQISRLEQTWVTLRQRHTEGAILYEKKLKPFLKSLNEGKEGPPLSNTTFPHVLPLITLLECDSAPPEGPEPWGSTEHGVE
VVLAHLEAARTVAHHGGLYHTNAEVKLQGFQARPELLEVFSTEFQMRLLWGSQGASSSQARRYEKFDKVLTALSHKLEPAVRSSEL
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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 (1) 0 (0) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top