AutismKB 2.0

Annotation Detail for P2RX6


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Basic Information Top
Gene Symbol:P2RX6 ( MGC129625,P2RXL1,P2X6,P2XM )
Gene Full Name: purinergic receptor P2X, ligand-gated ion channel, 6
Band: 22q11.21
Quick LinksEntrez ID:9127; OMIM: 608077; Uniprot ID:P2RX6_HUMAN; ENSEMBL ID: ENSG00000099957; HGNC ID: 8538
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
64Phosphotyrosine.
165N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...) (Potential).
210N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
54Phosphotyrosine.Swiss-Prot 53.0
155N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
185N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
200N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
54Phosphotyrosine(Syk)HMM predict
155N-linkedHMM predict
185N-linkedHMM predict
220Phosphotyrosine(Syk)HMM predict
396Phosphoserine(PKA)HMM predict
397Phosphoserine(PKG)HMM predict
397Phosphoserine(PKA)HMM predict
402O-linkedHMM predict
404O-linkedHMM predict
404O-linkedHMM predict
408Phosphoserine(ATM)HMM predict
408Phosphoserine(IKK)HMM predict
408O-linkedHMM predict
408O-linkedHMM predict
412Phosphothreonine(MAPK)HMM predict
419O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005446
  • Location:chr22 19699448-19713115
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 19705218 19705375 157 0
CTCF CD4SISSRdata 19705218 19705375 157 0
CTCF G2GSE9613 19705163 19705378 215 0
hScc1 G2GSE9613 19705163 19705615 452 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
17180 mRNA P2RXL1 chr22 19694002 19707673 112 mRNA SLC7A4 chr22 19707561 19711396Sense/Antisense (SA) pairs

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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