AutismKB 2.0

Annotation Detail for P2RX1


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Basic Information Top
Gene Symbol:P2RX1 ( P2X1 )
Gene Full Name: purinergic receptor P2X, ligand-gated ion channel, 1
Band: 17p13.3
Quick LinksEntrez ID:5023; OMIM: 600845; Uniprot ID:P2RX1_HUMAN; ENSEMBL ID: ENSG00000108405; HGNC ID: 8533
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
153N-linked (GlcNAc...) (Potential).
184N-linked (GlcNAc...) (Potential).
242N-linked (GlcNAc...) (Potential).
300N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
153N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
184N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
242N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
55Phosphotyrosine(Syk)HMM predict
133Phosphothreonine(CDC2)HMM predict
146Phosphothreonine(PKC)HMM predict
153N-linkedHMM predict
184N-linkedHMM predict
286Phosphoserine(CDC2)HMM predict
300N-linkedHMM predict
303N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002558
  • Location:chr17 3746637-3766708
  • 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 3757654 3757776 122 0
CTCF CD4GSE12889 3763946 3764259 313 0
CTCF CD4SISSRdata 3757654 3757776 122 0
CTCF CD4SISSRdata 3763946 3764259 313 0
CTCF HelaGSE12889 3757678 3757841 163 0
CTCF HelaGSE12889 3763945 3764318 373 0
CTCF G2GSE9613 3757387 3757701 314 0
CTCF G2GSE9613 3763824 3764714 890 0
Myc K562GSE19551 3757517 3757974 457 0
hScc1 BcellGSE12603 3761521 3761772 251 0
hScc1 BcellGSE12603 3763480 3764132 652 0
hScc1 BcellGSE12603 3764441 3764872 431 0
hScc1 CdLSGSE12603 3763824 3764174 350 0
p130 QuiescentGSE19898 3751524 3751785 261 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


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