p-12Y WDR48(1-323)-PDGFRB(559-1106) fusion [cytosol]

Stable Identifier
R-HSA-9673645
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
20085582 Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms

Hidalgo-Curtis, C, Apperley, JF, Stark, A, Stark, A, Jeng, M, Gotlib, J, Chase, A, Cross, NC, Grand, FH

Br. J. Haematol. 2010
External Reference Information
External Reference
UniProt:Q8TAF3 WDR48
Gene Names
WDR48, KIAA1449, UAF1
Chain
chain:1-677
Reference Genes
BioGPS Gene:57599 WDR48
COSMIC (genes):WDR48 WDR48
CTD Gene:57599 WDR48
dbSNP Gene:57599 WDR48
ENSEMBL:ENSG00000114742 WDR48
HGNC:30914 WDR48
KEGG Gene (Homo sapiens):57599 WDR48
Monarch:57599 WDR48
NCBI Gene:57599 WDR48
OMIM:612167 WDR48
UCSC:Q8TAF3 WDR48
Reference Transcript
Other Identifiers
0005720332
11751037_a_at
11763701_a_at
11763702_a_at
11764063_s_at
16939283
221735_at
222157_s_at
2617884
2617888
2617896
2617898
2617900
2617906
2617908
2617910
2617914
2617916
2617920
2617922
2617928
2617932
2617936
2617946
2617950
2617956
2617960
2617966
2617968
2617970
2617972
2617974
2617976
2617978
2617980
43835_at
4850579C_3p_s_at
4869617C_3p_s_at
50343_at
56919_at
57599
65591_at
8078834
A_23_P80409
A_33_P3297141
GE56870
GO:0000003
GO:0000724
GO:0003674
GO:0003677
GO:0003690
GO:0003697
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005764
GO:0005768
GO:0005770
GO:0005773
GO:0006259
GO:0006281
GO:0006464
GO:0006950
GO:0006974
GO:0007283
GO:0007338
GO:0008150
GO:0008283
GO:0008584
GO:0009790
GO:0016032
GO:0016579
GO:0031410
GO:0032182
GO:0034641
GO:0035264
GO:0036297
GO:0040007
GO:0042592
GO:0042769
GO:0043130
GO:0043226
GO:0043231
GO:0043588
GO:0044403
GO:0048568
GO:0048705
GO:0048856
GO:0048872
GO:0050679
GO:0072520
GO:1902525
GO:1903003
GO:1905168
HMNXSV003003360
HMNXSV003027501
Hs.109778.0.S1_3p_at
Hs.109778.1.S1_3p_a_at
Hs.109778.1.S1_3p_s_at
ILMN_1762103
PH_hs_0006056
TC03000197.hg
Participates
as a component of
Other forms of this molecule
WDR48 [nucleoplasm]
WDR48(1-323)-PDGFRB(559-1106) fusion [cytosol]
Modified Residues
Name
Insertion of residues 559 to 1106 at 324 from UniProt:P09619 PDGFRB
Coordinate
324
Name
O4'-phospho-L-tyrosine at 1009
Coordinate
1009
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 1021
Coordinate
1021
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 579
Coordinate
579
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 581
Coordinate
581
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 716
Coordinate
716
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 740
Coordinate
740
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 751
Coordinate
751
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 763
Coordinate
763
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 771
Coordinate
771
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 775
Coordinate
775
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 778
Coordinate
778
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 857
Coordinate
857
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Disease
Name Identifier Synonyms
myelodysplastic myeloproliferative cancer DOID:4972 Myeloproliferative/Myelodysplastic syndromes, unclassifiable myelodysplastic myeloproliferative disease, Unclassifiable Myeloproliferative/Myelodysplastic syndrome, Myelodysplastic/myeloproliferative disease (morphologic abnormality)
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Orphanet
PDB
Interactors (9)
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