AutismKB 2.0

Annotation Detail for PDCD1


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Basic Information Top
Gene Symbol:PDCD1 ( CD279,PD1,SLEB2,hPD-1,hPD-l )
Gene Full Name: programmed cell death 1
Band: 2q37.3
Quick LinksEntrez ID:5133; OMIM: 600244; Uniprot ID:PDCD1_HUMAN; ENSEMBL ID: ENSG00000188389; HGNC ID: 8760
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
49N-linked (GlcNAc...) (Potential).
58N-linked (GlcNAc...) (Potential).
74N-linked (GlcNAc...) (Potential).
116N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
49N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
58N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
74N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
116N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
27Phosphoserine(CDC2)HMM predict
49N-linkedHMM predict
58N-linkedHMM predict
59O-linkedHMM predict
74N-linkedHMM predict
87Phosphoserine(CK1)HMM predict
87Phosphoserine(IKK)HMM predict
116N-linkedHMM predict
121Phosphotyrosine(INSR)HMM predict
145Phosphothreonine(PKC)HMM predict
153O-linkedHMM predict
153O-linkedHMM predict
157O-linkedHMM predict
157Phosphoserine(CDK)HMM predict
159O-linkedHMM predict
159Phosphoserine(CDC2)HMM predict
223SulfotyrosineHMM predict
234Phosphothreonine(CDC2)HMM predict
248Phosphotyrosine(INSR)HMM predict
248Phosphotyrosine(Abl)HMM predict
261Phosphoserine(CDK)HMM predict
261Phosphoserine(CDC2)HMM predict
265MethylarginineHMM predict
267Phosphoserine(IKK)HMM predict
267Phosphoserine(CAMK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005018
  • Location:chr2 242440710-242449730
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb SenescentGSE19898 242450135 242450469 334 572
TFAP2C MCF7GSE21234 242450785 242451282 497 1303
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 242433476 242433655 179 7145
CTCF G2GSE9613 242434648 242435282 634 5746
Nanog hESGSE18292 242424346 242424541 195 16267
TAF HelaGSE8489 242436193 242436608 415 4310
TFAP2C MCF7GSE21234 242432701 242433147 446 7787
TFAP2C MCF7GSE21234 242439571 242440505 934 673
hScc1 BcellGSE12603 242434667 242435282 615 5736
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Pol2 GM12878GSE19551 242449381 242449898 517 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