AutismKB 2.0

Annotation Detail for ACVR1


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Basic Information Top
Gene Symbol:ACVR1 ( ACTRI,ACVR1A,ACVRLK2,ALK2,FOP,SKR1,TSRI )
Gene Full Name: activin A receptor, type I
Band: 2q24.1
Quick LinksEntrez ID:90; OMIM: 102576; Uniprot ID:ACVR1_HUMAN; ENSEMBL ID: ENSG00000115170; HGNC ID: 171
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
102N-linked (GlcNAc...) (Potential).
226Phosphoserine.
501Phosphoserine.
Location(AA) Modifications Resource
102N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
18Phosphoserine(CDK)HMM predict
55Phosphoserine(CK1)HMM predict
86Phosphoserine(CDC2)HMM predict
86O-linkedHMM predict
102N-linkedHMM predict
136S-palmitoylHMM predict
140S-palmitoylHMM predict
190Phosphoserine(CK1)HMM predict
190Phosphoserine(IKK)HMM predict
271Phosphothreonine(PKC)HMM predict
275Phosphoserine(CK1)HMM predict
362Phosphoserine(IKK)HMM predict
362Phosphoserine(ATM)HMM predict
381Phosphotyrosine(INSR)HMM predict
381Phosphotyrosine(Syk)HMM predict
398Phosphoserine(CDK)HMM predict
481N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001105
  • Location:chr2 158301206-158403035
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 158408595 158408631 36 5578
ER Fulvestrant-MCF7GSE14664 158408586 158408635 49 5575
FOXA1 MCF7GSE15244 158422406 158423043 637 19689
Fos K562GSE19551 158402840 158403795 955 282
Oct1 HelaGSE14283 158403371 158403406 35 353
Oct1 HelaGSE14283 158408585 158408636 51 5575
p130 shRbSenescentGSE19898 158420528 158420752 224 17605
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 158298081 158298119 38 3107
Oct1 HelaGSE14283 158298082 158298119 37 3106
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 158395637 158396502 865 0
CTCF CD4GSE12889 158316690 158316825 135 0
CTCF CD4SISSRdata 158316690 158316825 135 0
FOXA1 MCF7GSE15244 158390502 158391103 601 0
Fos K562GSE19551 158395820 158396416 596 0
Nanog hESGSE18292 158395855 158396258 403 0
Oct1 HelaGSE14283 158324999 158325031 32 0
Oct1 HelaGSE14283 158353892 158353926 34 0
Oct1 HelaGSE14283 158370236 158370268 32 0
P300 T30-glioblastomaGSE21026 158357332 158358102 770 0
P300 T30-glioblastomaGSE21026 158395761 158396657 896 0
RNAII Tamoxifen-MCF7GSE14664 158316844 158316902 58 0
TFAP2C MCF7GSE21234 158316000 158316690 690 0
p130 QuiescentGSE19898 158314551 158314763 212 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-197 hsa-mir-197 1 16822819
hsa-miR-197 hsa-mir-197 1 16822819
hsa-miR-346 hsa-mir-346 10 16822819
hsa-miR-346 hsa-mir-346 10 16822819
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


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