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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 20553

FusionGeneSummary for MAFB_WDR48

check button Fusion gene summary
Fusion gene informationFusion gene name: MAFB_WDR48
Fusion gene ID: 20553
HgeneTgene
Gene symbol

MAFB

WDR48

Gene ID

9935

57599

Gene nameMAF bZIP transcription factor BWD repeat domain 48
SynonymsDURS3|KRML|MCTOP80|SPG60|UAF1
Cytomap

20q12

3p22.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor MafBKreisler maf-related leucine zipper homologMAFB/Kreisler basic region/leucine zipper transcription factorv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog BWD repeat-containing protein 48USP1 associated factor 1WD repeat endosomal proteintesticular tissue protein Li 224
Modification date2018051920180523
UniProtAcc

Q9Y5Q3

Q8TAF3

Ensembl transtripts involved in fusion geneENST00000373313, ENST00000396967, 
ENST00000302313, ENST00000418020, 
ENST00000544962, ENST00000396258, 
ENST00000466405, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 1=9
# samples 24
** MAII scorelog2(2/1*10)=4.32192809488736log2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MAFB [Title/Abstract] AND WDR48 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMAFB

GO:0045647

negative regulation of erythrocyte differentiation

8620536

TgeneWDR48

GO:0016579

protein deubiquitination

18082604|19075014|24145035


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1DA693159MAFBchr20

39317553

-WDR48chr3

39133141

+
ChiTaRS3.1DA693139MAFBchr20

39317553

-WDR48chr3

39133141

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000373313ENST00000302313MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3CDSENST00000373313ENST00000418020MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3CDSENST00000373313ENST00000544962MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3CDSENST00000373313ENST00000396258MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3UTRENST00000373313ENST00000466405MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3CDSENST00000396967ENST00000302313MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3CDSENST00000396967ENST00000418020MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3CDSENST00000396967ENST00000544962MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3CDSENST00000396967ENST00000396258MAFBchr20

39317553

-WDR48chr3

39133141

+
intron-3UTRENST00000396967ENST00000466405MAFBchr20

39317553

-WDR48chr3

39133141

+

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FusionProtFeatures for MAFB_WDR48


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAFB

Q9Y5Q3

WDR48

Q8TAF3

Acts as a transcriptional activator or repressor(PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcriptionof erythroid-specific genes in myeloid cells. Required formonocytic, macrophage, osteoclast, podocyte and islet beta celldifferentiation. Involved in renal tubule survival and F4/80maturation. Activates the insulin and glucagon promoters. Togetherwith PAX6, transactivates weakly the glucagon gene promoterthrough the G1 element. SUMO modification controls itstranscriptional activity and ability to specify macrophage fate.Binds element G1 on the glucagon promoter (By similarity).Involved either as an oncogene or as a tumor suppressor, dependingon the cell context. {ECO:0000250|UniProtKB:P54841,ECO:0000269|PubMed:19143053, ECO:0000269|PubMed:27181683}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MAFB_WDR48


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MAFB_WDR48


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MAFB_WDR48


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MAFB_WDR48


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAFBC0008924Cleft Lip1CTD_human
HgeneMAFBC2674705Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy1ORPHANET;UNIPROT