AutismKB 2.0

Annotation Detail for SAMSN1


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Basic Information Top
Gene Symbol:SAMSN1 ( HACS1,NASH1,SASH2,SH3D6B )
Gene Full Name: SAM domain, SH3 domain and nuclear localization signals 1
Band: 21q11.2
Quick LinksEntrez ID:64092; OMIM: 607978; Uniprot ID:SAMN1_HUMAN; ENSEMBL ID: ENSG00000155307; HGNC ID: 10528
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
23Phosphoserine (By similarity).
25Important for interaction with 14-3-3
90Phosphoserine (By similarity).
160Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
7PhosphoserineHMM predict
7Phosphoserine(PKG)HMM predict
23Phosphoserine(PKB)HMM predict
32N-linkedHMM predict
33N-linkedHMM predict
36Phosphoserine(CK1)HMM predict
51N-linkedHMM predict
57Phosphoserine(IKK)HMM predict
125Phosphoserine(IKK)HMM predict
136O-linkedHMM predict
137O-linkedHMM predict
137Phosphoserine(CK1)HMM predict
140O-linkedHMM predict
160Phosphotyrosine(Jak)HMM predict
177Phosphoserine(CDC2)HMM predict
218Phosphotyrosine(EGFR)HMM predict
223Phosphoserine(CK1)HMM predict
297Phosphoserine(PKG)HMM predict
319Phosphoserine(IKK)HMM predict
327N-linkedHMM predict
329Phosphoserine(ATM)HMM predict
356Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022136
  • Location:chr21 14779419-14840534
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 14859434 14859868 434 19117
Nanog ESGSE20650 14859503 14859760 257 19097
Pol2 GM12878GSE19551 14840352 14840740 388 12
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p63 keratinocytesGSE17611 14775848 14776417 569 3287
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 14840378 14840681 303 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7c hsa-let-7c 21 18523997
hsa-let-7c* hsa-let-7c 21 18523997
hsa-miR-125b hsa-mir-125b-1 11 18523997
hsa-miR-125b hsa-mir-125b-2 21 18523997
hsa-miR-125b-2* hsa-mir-125b-2 21 18523997
hsa-miR-99a hsa-mir-99a 21 18523997
hsa-miR-99a* hsa-mir-99a 21 18523997
No data
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