AutismKB 2.0

Annotation Detail for PDGFRA


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Basic Information Top
Gene Symbol:PDGFRA ( CD140A,MGC74795,PDGFR2,RHEPDGFRA )
Gene Full Name: platelet-derived growth factor receptor, alpha polypeptide
Band: 4q12
Quick LinksEntrez ID:5156; OMIM: 173490; Uniprot ID:PGFRA_HUMAN; ENSEMBL ID: ENSG00000134853; HGNC ID: 8803
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
42N-linked (GlcNAc...) (Potential).
76N-linked (GlcNAc...) (Potential).
103N-linked (GlcNAc...) (Potential).
179N-linked (GlcNAc...) (Potential).
353N-linked (GlcNAc...) (Potential).
359N-linked (GlcNAc...) (Potential).
458N-linked (GlcNAc...) (Potential).
468N-linked (GlcNAc...) (Potential).
720Phosphotyrosine (Probable).
762Phosphotyrosine.
768Phosphotyrosine.
849Phosphotyrosine; by autocatalysis (By
1018Phosphotyrosine.
Location(AA) Modifications Resource
42N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
76N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
103N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
179N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
353N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
359N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
458N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
468N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
572PhosphotyrosinePhospho.ELM 6.0
574PhosphotyrosinePhospho.ELM 6.0
720PhosphotyrosinePhospho.ELM 6.0
731PhosphotyrosinePhospho.ELM 6.0
742PhosphotyrosinePhospho.ELM 6.0
754Phosphotyrosine (PDGFR alpha)Phospho.ELM 6.0
762Phosphotyrosine (PDGFR alpha)Phospho.ELM 6.0
767PhosphoserinePhospho.ELM 6.0
768PhosphotyrosinePhospho.ELM 6.0
849Phosphotyrosine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
988Phosphotyrosine (PDGFR alpha)Phospho.ELM 6.0
1018Phosphotyrosine (PDGFR alpha)Phospho.ELM 6.0
Location(AA) Modification Resource
62Phosphoserine(CK2)HMM predict
67Phosphoserine(ATM)HMM predict
67Phosphoserine(CK2)HMM predict
67Phosphoserine(CK1)HMM predict
76N-linkedHMM predict
77N-linkedHMM predict
89O-linkedHMM predict
95O-linkedHMM predict
102Phosphotyrosine(Syk)HMM predict
102SulfotyrosineHMM predict
103N-linkedHMM predict
118SulfotyrosineHMM predict
179N-linkedHMM predict
223Phosphothreonine(PKC)HMM predict
288Phosphotyrosine(INSR)HMM predict
322Phosphoserine(ATM)HMM predict
353N-linkedHMM predict
359N-linkedHMM predict
432Phosphothreonine(PKC)HMM predict
440Phosphothreonine(MAPK)HMM predict
458N-linkedHMM predict
468N-linkedHMM predict
471N-linkedHMM predict
482Phosphoserine(PKB)HMM predict
572Phosphotyrosine(INSR)HMM predict
572SulfotyrosineHMM predict
574SulfotyrosineHMM predict
574PhosphotyrosineHMM predict
618Phosphoserine(ATM)HMM predict
731Phosphotyrosine(INSR)HMM predict
731SulfotyrosineHMM predict
731PhosphotyrosineHMM predict
731Phosphotyrosine(SRC)HMM predict
906Phosphotyrosine(Syk)HMM predict
926Phosphotyrosine(SRC)HMM predict
962Phosphotyrosine(Jak)HMM predict
1042Phosphoserine(ATM)HMM predict
1044Phosphothreonine(PKC)HMM predict
1045Phosphoserine(CK2)HMM predict
1045Phosphoserine(CK1)HMM predict
1054Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006206
  • Location:chr4 54790203-54859167
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 54778704 54779197 493 11253
CTCF CD4GSE12889 54789088 54789223 135 1048
CTCF CD4SISSRdata 54778704 54779197 493 11253
CTCF CD4SISSRdata 54789088 54789223 135 1048
CTCF HelaGSE12889 54778826 54779043 217 11269
CTCF JurkatGSE12889 54778830 54779035 205 11271
CTCF G2GSE9613 54778444 54779127 683 11418
CTCF G2GSE9613 54779529 54780023 494 10428
CTCF G2GSE9613 54786025 54786204 179 4089
CTCF G2GSE9613 54787401 54787973 572 2517
CTCF G2GSE9613 54788813 54789237 424 1179
H3K27me3 colorectalcancer 54780374 54780676 302 9679
H3K27me3 colorectalcancer 54784400 54784674 274 5667
H3K27me3 colorectalcancer 54785280 54787191 1911 3968
H3K27me3 colorectalcancer 54787427 54791020 3593 980
Rb GrowingGSE19898 54789054 54789240 186 1057
hScc1 BcellGSE12603 54778444 54779165 721 11399
hScc1 BcellGSE12603 54788241 54789237 996 1465
hScc1 CdLSGSE12603 54778444 54779236 792 11364
hScc1 CdLSGSE12603 54788719 54789237 518 1226
hScc1 G2GSE9613 54778444 54779200 756 11382
p130 QuiescentGSE19898 54787625 54788371 746 2206
p130 SenescentGSE19898 54787741 54788199 458 2234
p130 shRbQuiescentGSE19898 54787554 54788163 609 2345
p130 shRbSenescentGSE19898 54787582 54788078 496 2374
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 54795209 54795447 238 0
CTCF CD4SISSRdata 54795209 54795447 238 0
CTCF G2GSE9613 54790792 54791058 266 0
CTCF G2GSE9613 54791722 54792096 374 0
CTCF G2GSE9613 54793818 54796849 3031 0
CTCF G2GSE9613 54798562 54798746 184 0
CTCF G2GSE9613 54813394 54813563 169 0
CTCF G2GSE9613 54835219 54835572 353 0
CTCF G2GSE9613 54854669 54854805 136 0
CTCF G2GSE9613 54855721 54856031 310 0
NFkBII GM12878GSE19485 54837736 54839326 1590 0
Oct1 HelaGSE14283 54851117 54851173 56 0
Sox2 hESGSE18292 54839007 54839497 490 0
hScc1 BcellGSE12603 54791874 54792717 843 0
hScc1 BcellGSE12603 54793818 54795598 1780 0
hScc1 CdLSGSE12603 54793818 54795670 1852 0
hScc1 G2GSE9613 54793818 54796691 2873 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-132 hsa-mir-132 17 19768731
hsa-miR-132* hsa-mir-132 17 19768731
hsa-miR-134 hsa-mir-134 14 19768731
hsa-miR-138 hsa-mir-138-2 16 20223197
hsa-miR-138 hsa-mir-138-1 3 20223197
hsa-miR-221 hsa-mir-221 X 19768731
hsa-miR-221* hsa-mir-221 X 19768731
hsa-miR-222 hsa-mir-222 X 19768731
hsa-miR-222* hsa-mir-222 X 19768731
hsa-miR-338-3p hsa-mir-338 17 20223197
hsa-miR-338-5p hsa-mir-338 17 20223197
hsa-miR-370 hsa-mir-370 14 19768731
hsa-miR-504 hsa-mir-504 X 19768731
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


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