AutismKB 2.0

Annotation Detail for ACTC1


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Basic Information Top
Gene Symbol:ACTC1 ( ACTC,ASD5,CMD1R,CMH11,LVNC4 )
Gene Full Name: actin, alpha, cardiac muscle 1
Band: 15q14
Quick LinksEntrez ID:70; OMIM: 102540; Uniprot ID:ACTC_HUMAN; ENSEMBL ID: ENSG00000159251; HGNC ID: 143
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
3N-acetylaspartate (By similarity).
75Tele-methylhistidine (By similarity).
Location(AA) Modifications Resource
3N-acetylaspartate (By similarity).Swiss-Prot 53.0
75Tele-methylhistidine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
55Phosphotyrosine(Jak)HMM predict
122Phosphothreonine(PKA)HMM predict
200Phosphotyrosine(SRC)HMM predict
201Phosphoserine(IKK)HMM predict
237Phosphoserine(CK1)HMM predict
281Phosphotyrosine(EGFR)HMM predict
306O-linkedHMM predict
364Phosphotyrosine(INSR)HMM predict
364Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005159
  • Location:chr15 32867588-32875218
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 32888907 32888951 44 13711
p130 SenescentGSE19898 32889979 32890557 578 15050
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 32874636 32874988 352 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
8624 EST chr15 32872860 32873040 138 mRNA ACTC chr15 32869723 32875153Sense/Antisense (SA) pairs

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