AutismKB 2.0

Annotation Detail for SAMD3


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Basic Information Top
Gene Symbol:SAMD3 ( FLJ34563,MGC35163 )
Gene Full Name: sterile alpha motif domain containing 3
Band: 6q23.1
Quick LinksEntrez ID:154075; OMIM: NA; Uniprot ID:SAMD3_HUMAN; ENSEMBL ID: ENSG00000164483; HGNC ID: 21574
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
72Phosphoserine(CDC2)HMM predict
91SulfotyrosineHMM predict
97Phosphoserine(CK1)HMM predict
98Phosphoserine(CDC2)HMM predict
98Phosphoserine(ATM)HMM predict
98PhosphoserineHMM predict
197Phosphotyrosine(Syk)HMM predict
197Phosphotyrosine(SRC)HMM predict
256Phosphothreonine(PKC)HMM predict
282Phosphoserine(CK2)HMM predict
295Phosphotyrosine(EGFR)HMM predict
295Phosphotyrosine(Jak)HMM predict
324Phosphothreonine(CDK)HMM predict
399Phosphotyrosine(INSR)HMM predict
399Phosphotyrosine(Jak)HMM predict
485Phosphoserine(PKG)HMM predict
518ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001017373
  • Location:chr6 130507155-130585791
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 130586358 130586645 287 710
CTCF CD4SISSRdata 130586358 130586645 287 710
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 130511128 130511275 147 0
CTCF CD4SISSRdata 130511128 130511275 147 0
CTCF G2GSE9613 130528735 130528964 229 0
Fos K562GSE19551 130541443 130541862 419 0
p63 keratinocytesGSE17611 130530175 130531149 974 0
Validated miRNA targets Top
Cis-Nats regulation Top

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