AutismKB 2.0

Annotation Detail for SAMD9L


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Basic Information Top
Gene Symbol:SAMD9L ( C7orf6,DRIF2,FLJ39885,KIAA2005,UEF1 )
Gene Full Name: sterile alpha motif domain containing 9-like
Band: 7q21.2
Quick LinksEntrez ID:219285; OMIM: 611170; Uniprot ID:SAM9L_HUMAN; ENSEMBL ID: ENSG00000177409; HGNC ID: 1349
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1293Phosphoserine.
Location(AA) Modifications Resource
1293Phosphoserine.Swiss-Prot 53.0
1296PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
6Phosphoserine(IKK)HMM predict
82Phosphoserine(ATM)HMM predict
96Phosphoserine(CK1)HMM predict
107Phosphothreonine(PKC)HMM predict
114Phosphoserine(CK1)HMM predict
114Phosphoserine(IKK)HMM predict
116Phosphoserine(CK1)HMM predict
177Phosphotyrosine(INSR)HMM predict
181SulfotyrosineHMM predict
218Phosphoserine(PKG)HMM predict
234N-linkedHMM predict
296N-linkedHMM predict
297N-linkedHMM predict
322Phosphotyrosine(Jak)HMM predict
413Phosphotyrosine(Syk)HMM predict
509Phosphotyrosine(Syk)HMM predict
509Phosphotyrosine(INSR)HMM predict
509Phosphotyrosine(SRC)HMM predict
555Phosphoserine(CDC2)HMM predict
606N-linkedHMM predict
618N-linkedHMM predict
704N-linkedHMM predict
769N-linkedHMM predict
795Phosphotyrosine(Syk)HMM predict
916Phosphoserine(CK1)HMM predict
916PhosphoserineHMM predict
953Phosphothreonine(CDC2)HMM predict
959PhosphoserineHMM predict
1170Phosphothreonine(CK2)HMM predict
1175Phosphotyrosine(Syk)HMM predict
1175Phosphotyrosine(INSR)HMM predict
1179N-linkedHMM predict
1224Phosphoserine(CK1)HMM predict
1346Phosphotyrosine(INSR)HMM predict
1405Phosphothreonine(PKC)HMM predict
1423Phosphotyrosine(Syk)HMM predict
1456N-linkedHMM predict
1526Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152703
  • Location:chr7 92597303-92615615
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 92616995 92617041 46 1403
FoxA1 MCF7MACSdata 92627718 92627953 235 12220
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 92607423 92607645 222 0
ER E2-MCF7GSE14664 92599113 92599157 44 0
ER Fulvestrant-MCF7GSE14664 92599121 92599189 68 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