AutismKB 2.0

Annotation Detail for REG1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:REG1A ( ICRF,MGC12447,P19,PSP,PSPS,PSPS1,PTP,REG )
Gene Full Name: regenerating islet-derived 1 alpha
Band: 2p12
Quick LinksEntrez ID:5967; OMIM: 167770; Uniprot ID:REG1A_HUMAN; ENSEMBL ID: ENSG00000115386; HGNC ID: 9951
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
23Pyrrolidone carboxylic acid.
27O-linked (GlcNAc...).
Location(AA) Modifications Resource
23Pyrrolidone carboxylic acid.Swiss-Prot 53.0
27O-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
18Phosphoserine(ATM)HMM predict
20Phosphoserine(ATM)HMM predict
27O-linkedHMM predict
35Phosphoserine(PKG)HMM predict
131Phosphoserine(ATM)HMM predict
165LysineHMM predict
166AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002909
  • Location:chr2 79201091-79204052
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 79194153 79194690 537 6670
Oct1 H2O2-HelaGSE14283 79192401 79192434 33 8674
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 79200777 79203868 3091 0
Oct1 H2O2-HelaGSE14283 79201441 79201468 27 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