AutismKB 2.0

Evidence Details for STAM


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Basic Information Top
Gene Symbol:STAM ( DKFZp686J2352,STAM1 )
Gene Full Name: signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
Band: 10p12.33
Quick LinksEntrez ID:8027; OMIM: 601899; Uniprot ID:STAM1_HUMAN; ENSEMBL ID: ENSG00000136738; HGNC ID: 11357
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STAM|8027|nucleotide
ATGCCTCTTTTTGCCACCAATCCCTTCGATCAGGATGTTGAGAAAGCAACCAGCGAGATGAATACTGCTGAGGACTGGGGCCTCATTTTGGATATCTGTGATAAA
GTTGGTCAGTCTCGCACTGGACCTAAGGATTGTCTTCGGTCTATTATGAGAAGAGTGAACCACAAAGATCCTCACGTTGCTATGCAGGCTTTGACTCTTCTAGGA
GCATGTGTATCAAACTGTGGCAAAATTTTTCATTTAGAAGTATGTTCAAGAGATTTTGCTAGTGAAGTAAGCAACGTATTAAATAAGGGTCATCCTAAAGTATGT
GAAAAATTAAAGGCTCTTATGGTTGAATGGACAGATGAATTTAAGAATGATCCACAGCTTAGTCTAATATCAGCAATGATTAAGAACCTTAAGGAACAAGGAGTT
ACGTTCCCAGCTATTGGCTCTCAGGCTGCAGAACAAGCAAAAGCAAGCCCAGCTCTTGTAGCCAAGGATCCTGGTACTGTGGCTAACAAAAAAGAAGAAGAAGAT
TTAGCAAAAGCCATTGAGTTGTCTCTCAAGGAACAAAGGCAGCAGTCAACCACCCTTTCCACTTTGTATCCAAGCACATCCAGTCTCTTAACTAACCACCAACAT
GAAGGCCGAAAAGTTCGTGCTATATATGACTTTGAAGCTGCTGAAGACAATGAACTTACTTTTAAAGCTGGAGAAATTATTACAGTTCTTGATGACAGTGATCCT
AACTGGTGGAAAGGTGAAACCCATCAAGGCATAGGGTTATTTCCTTCTAATTTTGTGACTGCAGATCTCACTGCTGAACCAGAAATGATTAAAACAGAGAAGAAG
ACGGTACAATTTAGTGATGATGTTCAGGTAGAGACAATAGAACCAGAGCCGGAACCAGCCTTTATTGATGAAGATAAAATGGACCAGTTGCTACAGATGCTGCAA
AGTACAGACCCCAGTGATGATCAGCCAGACCTACCAGAGCTGCTTCATCTTGAAGCAATGTGTCACCAGATGGGACCTCTCATTGATGAAAAGCTGGAAGATATT
GATAGAAAACATTCAGAACTCTCAGAACTTAATGTGAAAGTGATGGAGGCCCTTTCCTTATATACCAAGTTAATGAACGAAGATCCGATGTATTCCATGTATGCA
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>STAM|8027|protein
MPLFATNPFDQDVEKATSEMNTAEDWGLILDICDKVGQSRTGPKDCLRSIMRRVNHKDPHVAMQALTLLGACVSNCGKIFHLEVCSRDFASEVSNVLNKGHPKVC
EKLKALMVEWTDEFKNDPQLSLISAMIKNLKEQGVTFPAIGSQAAEQAKASPALVAKDPGTVANKKEEEDLAKAIELSLKEQRQQSTTLSTLYPSTSSLLTNHQH
EGRKVRAIYDFEAAEDNELTFKAGEIITVLDDSDPNWWKGETHQGIGLFPSNFVTADLTAEPEMIKTEKKTVQFSDDVQVETIEPEPEPAFIDEDKMDQLLQMLQ
STDPSDDQPDLPELLHLEAMCHQMGPLIDEKLEDIDRKHSELSELNVKVMEALSLYTKLMNEDPMYSMYAKLQNQPYYMQSSGVSGSQVYAGPPPSGAYLVAGNA
QMSHLQSYSLPPEQLSSLSQAVVPPSANPALPSQQTQAAYPNTMVSSVQGNTYPSQAPVYSPPPAATAAAATADVTLYQNAGPNMPQVPNYNLTSSTLPQPGGSQ
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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) 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 1 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.84267 Down 3.24088
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1765409
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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