AutismKB 2.0

Evidence Details for SALL3


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Basic Information Top
Gene Symbol:SALL3 ( ZNF796 )
Gene Full Name: sal-like 3 (Drosophila)
Band: 18q23
Quick LinksEntrez ID:27164; OMIM: 605079; Uniprot ID:SALL3_HUMAN; ENSEMBL ID: ENSG00000151514; HGNC ID: 10527
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SALL3|27164|nucleotide
ATGTCTCGGCGCAAGCAGGCCAAGCCCCAGCACCTCAAGTCGGACGAGGAGCTGCTGCCGCCTGACGGGGCTCCCGAGCACGCCGCCCCGGGGGAAGGTGCGGAG
GACGCAGACAGCGGGCCCGAGAGCCGCAGCGGGGGCGAGGAGACCAGCGTGTGCGAGAAATGCTGCGCCGAGTTCTTCAAGTGGGCGGACTTCCTGGAGCACCAG
CGGAGCTGCACCAAGCTCCCGCCCGTGCTGATCGTGCACGAGGACGCGCCCGCGCCGCCCCCCGAGGACTTCCCCGAGCCTTCGCCCGCCAGCTCCCCCAGCGAG
CGCGCCGAAAGCGAGGCGGCCGAGGAGGCGGGTGCGGAGGGCGCGGAGGGCGAGGCCAGGCCGGTGGAGAAGGAGGCCGAGCCCATGGACGCGGAACCCGCGGGG
GACACGCGCGCGCCCCGGCCCCCGCCTGCGGCCCCTGCACCCCCAACGCCCGCCTACGGCGCGCCCAGCACCAACGTGACCCTGGAGGCGCTGCTGAGCACCAAG
GTGGCGGTGGCGCAGTTCTCGCAGGGCGCGCGCGCGGCAGGCGGCTCGGGAGCAGGTGGAGGCGTGGCAGCTGCAGCCGTGCCCCTGATCCTGGAACAGCTCATG
GCCCTGCAGCAGCAGCAGATCCACCAGCTGCAGCTCATCGAGCAGATCCGCAGCCAGGTGGCCCTCATGCAGCGCCCGCCGCCGCGGCCCTCACTCAGCCCCGCG
GCCGCCCCGAGCGCACCGGGCCCGGCCCCCAGCCAGCTGCCCGGGCTGGCCGCGCTCCCGCTGTCGGCCGGGGCCCCTGCCGCCGCCATCGCGGGCTCGGGCCCC
GCCGCCCCGGCCGCCTTCGAGGGCGCGCAGCCGCTGTCCCGGCCCGAGTCTGGCGCCAGCACCCCCGGCGGCCCTGCGGAGCCCAGCGCGCCCGCCGCCCCCAGC
GCCGCCCCTGCCCCCGCTGCCCCCGCCCCGGCGCCAGCGCCGCAGAGCGCAGCCTCGTCGCAGCCGCAGAGCGCATCCACGCCGCCTGCCCTGGCCCCGGGGTCC
CTGCTGGGTGCGGCGCCCGGCCTGCCAAGTCCGCTTCTACCTCAGACTTCCGCCAGCGGCGTCATCTTCCCCAACCCGCTGGTCAGCATCGCGGCCACGGCCAAC
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>SALL3|27164|protein
MSRRKQAKPQHLKSDEELLPPDGAPEHAAPGEGAEDADSGPESRSGGEETSVCEKCCAEFFKWADFLEHQRSCTKLPPVLIVHEDAPAPPPEDFPEPSPASSPSE
RAESEAAEEAGAEGAEGEARPVEKEAEPMDAEPAGDTRAPRPPPAAPAPPTPAYGAPSTNVTLEALLSTKVAVAQFSQGARAAGGSGAGGGVAAAAVPLILEQLM
ALQQQQIHQLQLIEQIRSQVALMQRPPPRPSLSPAAAPSAPGPAPSQLPGLAALPLSAGAPAAAIAGSGPAAPAAFEGAQPLSRPESGASTPGGPAEPSAPAAPS
AAPAPAAPAPAPAPQSAASSQPQSASTPPALAPGSLLGAAPGLPSPLLPQTSASGVIFPNPLVSIAATANALDPLSALMKHRKGKPPNVSVFEPKASAEDPFFKH
KCRFCAKVFGSDSALQIHLRSHTGERPFKCNICGNRFSTKGNLKVHFQRHKEKYPHIQMNPYPVPEYLDNVPTCSGIPYGMSLPPEKPVTTWLDSKPVLPTVPTS
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Bremer, 2011 - aCGHASD - - - - 223 - 223
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top