AutismKB 2.0

Annotation Detail for PDGFRB


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Basic Information Top
Gene Symbol:PDGFRB ( CD140B,JTK12,PDGFR,PDGFR1 )
Gene Full Name: platelet-derived growth factor receptor, beta polypeptide
Band: 5q32
Quick LinksEntrez ID:5159; OMIM: 173410; Uniprot ID:PGFRB_HUMAN; ENSEMBL ID: ENSG00000113721; HGNC ID: 8804
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45N-linked (GlcNAc...) (Potential).
89N-linked (GlcNAc...) (Potential).
103N-linked (GlcNAc...) (Potential).
215N-linked (GlcNAc...) (Potential).
230N-linked (GlcNAc...) (Potential).
292N-linked (GlcNAc...) (Potential).
307N-linked (GlcNAc...) (Potential).
354N-linked (GlcNAc...) (Potential).
371N-linked (GlcNAc...) (Potential).
468N-linked (GlcNAc...) (Potential).
479N-linked (GlcNAc...) (Potential).
562Phosphotyrosine; by autocatalysis.
579Phosphotyrosine; by autocatalysis.
581Phosphotyrosine; by autocatalysis.
716Phosphotyrosine; by autocatalysis.
740Phosphotyrosine; by autocatalysis.
751Phosphotyrosine; by autocatalysis.
763Phosphotyrosine; by autocatalysis.
771Phosphotyrosine; by autocatalysis.
775Phosphotyrosine; by autocatalysis.
778Phosphotyrosine; by autocatalysis.
857Phosphotyrosine; by autocatalysis.
1009Phosphotyrosine; by autocatalysis.
1021Phosphotyrosine; by autocatalysis.
Location(AA) Modifications Resource
45N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
89N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
103N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
215N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
230N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
292N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
307N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
354N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
371N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
468N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
479N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
562Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
579Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
581Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
716Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
740Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
751Phosphotyrosine (by autocatalysis).Swiss-Prot 53.0
751Phosphotyrosine (PDGFR beta;P)Phospho.ELM 6.0
763Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
771Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
775Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
778Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
857Phosphotyrosine (PDGFR beta;P)Phospho.ELM 6.0
857Phosphotyrosine (by autocatalysis).Swiss-Prot 53.0
1009Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
1021Phosphotyrosine (PDGFR beta)Phospho.ELM 6.0
1104Phosphoserine (GRK-2)Phospho.ELM 6.0
Location(AA) Modification Resource
36Phosphothreonine(CDK)HMM predict
45N-linkedHMM predict
53O-linkedHMM predict
89N-linkedHMM predict
98Phosphotyrosine(Jak)HMM predict
180Phosphoserine(PKB)HMM predict
188Phosphotyrosine(EGFR)HMM predict
188Phosphotyrosine(Jak)HMM predict
204Phosphotyrosine(Syk)HMM predict
223Phosphothreonine(PKC)HMM predict
230N-linkedHMM predict
289Phosphotyrosine(INSR)HMM predict
292N-linkedHMM predict
298N-linkedHMM predict
307N-linkedHMM predict
315Phosphotyrosine(EGFR)HMM predict
354N-linkedHMM predict
361Phosphoserine(CK2)HMM predict
371N-linkedHMM predict
379Phosphoserine(CAMK2)HMM predict
423Phosphoserine(CK1)HMM predict
425Phosphoserine(ATM)HMM predict
429Phosphoserine(IKK)HMM predict
433Phosphothreonine(PKC)HMM predict
468N-linkedHMM predict
469Phosphoserine(CK2)HMM predict
470Phosphoserine(CK2)HMM predict
474Phosphoserine(ATM)HMM predict
474Phosphoserine(CK1)HMM predict
474Phosphoserine(IKK)HMM predict
479N-linkedHMM predict
571Phosphoserine(CK2)HMM predict
574Phosphoserine(CK1)HMM predict
579SulfotyrosineHMM predict
579Phosphotyrosine(INSR)HMM predict
581PhosphotyrosineHMM predict
581SulfotyrosineHMM predict
625Phosphoserine(ATM)HMM predict
625Phosphoserine(IKK)HMM predict
740Phosphotyrosine(INSR)HMM predict
740Phosphotyrosine(Syk)HMM predict
740Phosphotyrosine(Jak)HMM predict
751SulfotyrosineHMM predict
751Phosphotyrosine(INSR)HMM predict
771Phosphotyrosine(SRC)HMM predict
771Phosphotyrosine(Syk)HMM predict
771Phosphotyrosine(INSR)HMM predict
793N-linkedHMM predict
800Phosphotyrosine(Jak)HMM predict
857Phosphotyrosine(INSR)HMM predict
904Phosphotyrosine(EGFR)HMM predict
914Phosphotyrosine(EGFR)HMM predict
934Phosphotyrosine(INSR)HMM predict
934SulfotyrosineHMM predict
934Phosphotyrosine(Syk)HMM predict
952Phosphoserine(ATM)HMM predict
970Phosphotyrosine(Syk)HMM predict
1021SulfotyrosineHMM predict
1021Phosphotyrosine(INSR)HMM predict
1043Phosphoserine(IKK)HMM predict
1043O-linkedHMM predict
1053N-linkedHMM predict
1059Phosphoserine(IKK)HMM predict
1062Phosphoserine(IKK)HMM predict
1097ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002609
  • Location:chr5 149473594-149515614
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 149519647 149519867 220 4143
Oct1 HelaGSE14283 149520696 149520739 43 5103
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 149489769 149490034 265 0
CTCF CD4SISSRdata 149489769 149490034 265 0
CTCF HelaGSE12889 149489717 149490130 413 0
CTCF JurkatGSE12889 149489775 149490070 295 0
CTCF G2GSE9613 149474669 149475282 613 0
CTCF G2GSE9613 149479208 149479471 263 0
CTCF G2GSE9613 149480063 149480506 443 0
CTCF G2GSE9613 149480870 149481136 266 0
CTCF G2GSE9613 149481856 149482130 274 0
CTCF G2GSE9613 149482416 149482709 293 0
CTCF G2GSE9613 149483920 149484245 325 0
CTCF G2GSE9613 149485191 149485363 172 0
CTCF G2GSE9613 149486133 149487043 910 0
CTCF G2GSE9613 149489538 149490555 1017 0
CTCF G2GSE9613 149495372 149496341 969 0
CTCF G2GSE9613 149496632 149496930 298 0
CTCF G2GSE9613 149498585 149498979 394 0
CTCF G2GSE9613 149501325 149502154 829 0
CTCF G2GSE9613 149503162 149503522 360 0
CTCF G2GSE9613 149504474 149504694 220 0
CTCF G2GSE9613 149508780 149509021 241 0
CTCF G2GSE9613 149512377 149512578 201 0
CTCF G2GSE9613 149514317 149514571 254 0
Fos K562GSE19551 149502621 149503532 911 0
KLF4 hESGSE17917 149498299 149498570 271 0
Nanog hESGSE18292 149490394 149490881 487 0
Oct1 H2O2-HelaGSE14283 149485519 149485546 27 0
Oct1 HelaGSE14283 149474035 149474073 38 0
RNAII Tamoxifen-MCF7GSE14664 149494634 149494734 100 0
Rb QuiescentGSE19898 149502770 149502903 133 0
Sox2 hESGSE18292 149490539 149490761 222 0
TFAP2C MCF7GSE21234 149476672 149477529 857 0
TFAP2C MCF7GSE21234 149481861 149482195 334 0
TFAP2C MCF7GSE21234 149501518 149502127 609 0
hScc1 BcellGSE12603 149479208 149479396 188 0
hScc1 BcellGSE12603 149489538 149490186 648 0
hScc1 CdLSGSE12603 149479208 149479471 263 0
hScc1 CdLSGSE12603 149489500 149490262 762 0
p130 SenescentGSE19898 149497796 149498051 255 0
p130 shRbQuiescentGSE19898 149498687 149499245 558 0
p130 shRbQuiescentGSE19898 149501935 149502541 606 0
p130 shRbSenescentGSE19898 149502753 149503015 262 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-125a-3p hsa-mir-125a 19 16331254
hsa-miR-125a-5p hsa-mir-125a 19 16331254
hsa-miR-195 hsa-mir-195 17 16331254
hsa-miR-195* hsa-mir-195 17 16331254
hsa-miR-200a hsa-mir-200a 1 16331254
hsa-miR-200a* hsa-mir-200a 1 16331254
hsa-miR-224 hsa-mir-224 X 16331254
hsa-miR-296-3p hsa-mir-296 20 18977327
hsa-miR-296-5p hsa-mir-296 20 18977327
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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