AutismKB 2.0

Annotation Detail for RHAG


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RHAG ( CD241,RH2,RH50A,Rh50,Rh50GP,SLC42A1 )
Gene Full Name: Rh-associated glycoprotein
Band: 6p12.3
Quick LinksEntrez ID:6005; OMIM: 180297; Uniprot ID:RHAG_HUMAN; ENSEMBL ID: ENSG00000112077; HGNC ID: 10006
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
37N-linked (GlcNAc...) (Potential).
355N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
37N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
37N-linkedHMM predict
103Phosphoserine(ATM)HMM predict
137Phosphoserine(CDC2)HMM predict
157Phosphotyrosine(Jak)HMM predict
205Phosphotyrosine(Syk)HMM predict
274N-linkedHMM predict
402Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000324
  • Location:chr6 49680855-49712510
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 49712298 49712807 509 42
Myc K562GSE19551 49721862 49722444 582 9643
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 49664024 49664060 36 16814
Oct1 HelaGSE14283 49664026 49664061 35 16812
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49698812 49699467 655 0
ER E2-MCF7GSE14664 49699942 49699982 40 0
Nanog hESGSE18292 49683253 49683694 441 0
TAF k562GSE8489 49709181 49709602 421 0
TAF k562GSE8489 49710804 49713803 2999 0
TFAP2C MCF7GSE21234 49699021 49699548 527 0
hScc1 G2GSE9613 49698812 49699467 655 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-128 hsa-mir-128-1 2 21372826
hsa-miR-128 hsa-mir-128-2 3 21372826
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