AutismKB 2.0

Annotation Detail for AVPR1A


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Basic Information Top
Gene Symbol:AVPR1A ( AVPR1 )
Gene Full Name: arginine vasopressin receptor 1A
Band: 12q14.2
Quick LinksEntrez ID:552; OMIM: 600821; Uniprot ID:V1AR_HUMAN; ENSEMBL ID: ENSG00000166148; HGNC ID: 895
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
27N-linked (GlcNAc...) (Potential).
196N-linked (GlcNAc...) (Potential).
404Phosphoserine (By similarity).
Location(AA) Modifications Resource
27N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
196N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
365S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
366S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
404Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
12O-linkedHMM predict
14N-linkedHMM predict
27N-linkedHMM predict
28Phosphothreonine(CK2)HMM predict
28Phosphothreonine(PKC)HMM predict
79Phosphothreonine(CDK)HMM predict
79Phosphothreonine(MAPK)HMM predict
79Phosphothreonine(CDC2)HMM predict
196N-linkedHMM predict
275S-palmitoylHMM predict
327N-linkedHMM predict
341Phosphoserine(IKK)HMM predict
366S-palmitoylHMM predict
391N-linkedHMM predict
393Phosphoserine(CDC2)HMM predict
396N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000706
  • Location:chr12 61826482-61832856
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 61843417 61843887 470 10796
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 61810076 61810332 256 16279
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 61829989 61831136 1147 0
CTCF G2GSE9613 61831884 61832764 880 0
FOXA1 MCF7GSE15244 61832102 61832410 308 0
H3K27me3 colorectalcancer 61829441 61830225 784 0
H3K27me3 colorectalcancer 61831233 61832951 1718 0
RARG MCF7GSE15244 61832102 61832587 485 0
hScc1 CdLSGSE12603 61832102 61832617 515 0
hScc1 G2GSE9613 61831884 61832764 880 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