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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018