AutismKB 2.0

Evidence Details for SBDS


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Basic Information Top
Gene Symbol:SBDS ( FLJ10917,SDS,SWDS )
Gene Full Name: Shwachman-Bodian-Diamond syndrome
Band: 7q11.21
Quick LinksEntrez ID:51119; OMIM: 607444; Uniprot ID:SBDS_HUMAN; ENSEMBL ID: ENSG00000126524; HGNC ID: 19440
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SBDS|51119|nucleotide
ATGTCGATCTTCACCCCCACCAACCAGATCCGCCTAACCAATGTGGCCGTGGTACGGATGAAGCGTGCCGGGAAGCGCTTCGAAATCGCCTGCTACAAAAACAAG
GTCGTCGGCTGGCGGAGCGGCGTGGAAAAAGACCTCGATGAAGTTCTGCAGACCCACTCAGTGTTTGTAAATGTTTCTAAAGGTCAGGTTGCCAAAAAGGAAGAT
CTCATCAGTGCGTTTGGAACAGATGACCAAACTGAAATCTGTAAGCAGATTTTGACTAAAGGAGAAGTTCAAGTATCAGATAAAGAAAGACACACACAACTGGAG
CAGATGTTTAGGGACATTGCAACTATTGTGGCAGACAAATGTGTGAATCCTGAAACAAAGAGACCATACACCGTGATCCTTATTGAGAGAGCCATGAAGGACATC
CACTATTCGGTGAAAACCAACAAGAGTACAAAACAGCAGGCTTTGGAAGTGATAAAGCAGTTAAAAGAGAAAATGAAGATAGAACGTGCTCACATGAGGCTTCGG
TTCATCCTTCCAGTCAATGAAGGCAAGAAGCTGAAAGAAAAGCTCAAGCCACTGATCAAGGTCATAGAAAGTGAAGATTATGGCCAACAGTTAGAAATCGTATGT
CTGATTGACCCGGGCTGCTTCCGAGAAATTGATGAGCTAATAAAAAAGGAAACTAAAGGCAAAGGTTCTTTGGAAGTACTCAATCTGAAAGATGTAGAAGAAGGA
GATGAGAAATTTGAATGA



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>SBDS|51119|protein
MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNVSKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHTQLE
QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKTNKSTKQQALEVIKQLKEKMKIERAHMRLRFILPVNEGKKLKEKLKPLIKVIESEDYGQQLEIVC
LIDPGCFREIDELIKKETKGKGSLEVLNLKDVEEGDEKFE


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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top