AutismKB 2.0

Annotation Detail for ACTA1


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Basic Information Top
Gene Symbol:ACTA1 ( ACTA,ASMA,CFTD,CFTD1,CFTDM,MPFD,NEM1,NEM2,NEM3 )
Gene Full Name: actin, alpha 1, skeletal muscle
Band: 1q42.13
Quick LinksEntrez ID:58; OMIM: 102610; Uniprot ID:ACTS_HUMAN; ENSEMBL ID: ENSG00000143632; HGNC ID: 129
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
3N-acetylaspartate (By similarity).
55Phosphotyrosine.
63N6-acetyllysine.
70N6-acetyllysine.
75Tele-methylhistidine (By similarity).
93Phosphotyrosine.
193N6-acetyllysine.
242Phosphotyrosine (By similarity).
328N6-acetyllysine.
330N6-acetyllysine.
Location(AA) Modifications Resource
3N-acetylaspartate (By similarity).Swiss-Prot 53.0
55PhosphotyrosinePhospho.ELM 6.0
63N6-acetyllysine.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
360ThreonineHMM predict
364Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001100
  • Location:chr1 227633617-227636465
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 227637597 227638926 1329 1796
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 227628629 227629084 455 4761
Myc K562GSE19551 227623183 227623470 287 10291
NRSF JurkatGSE13047 227632728 227633639 911 434
NRSF JurkatSISSRdata 227633027 227633535 508 337
NRSF mAbJurkat 227632032 227632713 681 1245
NRSF-mono JurkatQuESTdata 227632903 227633565 662 384
NRSF-poly JurkatQuESTdata 227632441 227633673 1232 561
TFAP2C MCF7GSE21234 227614394 227614873 479 18984
TFAP2C MCF7GSE21234 227632980 227633503 523 376
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 227633176 227634281 1105 0
hScc1 BcellGSE12603 227634916 227635276 360 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 19004760
hsa-miR-1 hsa-mir-1-1 20 19004760
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