AutismKB 2.0

Annotation Detail for MYO1A


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Basic Information Top
Gene Symbol:MYO1A ( BBMI,DFNA48,MIHC,MYHL )
Gene Full Name: myosin IA
Band: 12q13.3
Quick LinksEntrez ID:4640; OMIM: 601478; Uniprot ID:MYO1A_HUMAN; ENSEMBL ID: ENSG00000166866; HGNC ID: 7595
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
78Phosphotyrosine(INSR)HMM predict
130Phosphoserine(CK2)HMM predict
130Phosphoserine(CK1)HMM predict
154N-linkedHMM predict
155N-linkedHMM predict
162Phosphotyrosine(INSR)HMM predict
172Phosphoserine(CDC2)HMM predict
269Phosphoserine(MAPK)HMM predict
420Phosphotyrosine(Syk)HMM predict
515N-linkedHMM predict
585Phosphotyrosine(INSR)HMM predict
628MethylarginineHMM predict
667Phosphoserine(CK1)HMM predict
860Phosphoserine(CAMK2)HMM predict
861Phosphotyrosine(EGFR)HMM predict
864Phosphoserine(ATM)HMM predict
961Phosphoserine(CK1)HMM predict
962Phosphoserine(ATM)HMM predict
1000O-linkedHMM predict
1037S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005379
  • Location:chr12 55708568-55730159
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 55728994 55731927 2933 301
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 55707059 55707721 662 1179
Oct1 HelaGSE14283 55703874 55703937 63 4663
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 55711531 55711645 114 0
CTCF CD4SISSRdata 55711531 55711645 114 0
CTCF G2GSE9613 55711825 55712182 357 0
CTCF G2GSE9613 55716345 55716671 326 0
CTCF G2GSE9613 55718165 55718485 320 0
NRSF JurkatGSE13047 55729720 55730449 729 0
NRSF-mono JurkatQuESTdata 55729794 55730448 654 0
NRSF pAbJurkat 55729094 55730577 1483 0
NRSF-poly JurkatQuESTdata 55729783 55730395 612 0
Oct1 H2O2-HelaGSE14283 55717704 55717732 28 0
Oct1 H2O2-HelaGSE14283 55728928 55728966 38 0
Oct1 HelaGSE14283 55712761 55712814 53 0
Oct1 HelaGSE14283 55717118 55717150 32 0
Oct1 HelaGSE14283 55728923 55728966 43 0
hScc1 BcellGSE12603 55711311 55712146 835 0
hScc1 CdLSGSE12603 55711418 55711704 286 0
p63 keratinocytesGSE17611 55711091 55712189 1098 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