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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: 11770

FusionGeneSummary for EPB41_USP49

check button Fusion gene summary
Fusion gene informationFusion gene name: EPB41_USP49
Fusion gene ID: 11770
HgeneTgene
Gene symbol

EPB41

USP49

Gene ID

2035

25862

Gene nameerythrocyte membrane protein band 4.1ubiquitin specific peptidase 49
Synonyms4.1R|EL1|HE-
Cytomap

1p35.3

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionprotein 4.1EPB4.1P4.1band 4.1elliptocytosis 1, RH-linkederythrocyte surface protein band 4.1ubiquitin carboxyl-terminal hydrolase 49deubiquitinating enzyme 49ubiquitin specific protease 49ubiquitin thioesterase 49ubiquitin thiolesterase 49ubiquitin-specific-processing protease 49
Modification date2018052320180523
UniProtAcc

P11171

Q70CQ1

Ensembl transtripts involved in fusion geneENST00000356093, ENST00000398863, 
ENST00000343067, ENST00000349460, 
ENST00000373800, ENST00000347529, 
ENST00000373798, ENST00000373797, 
ENST00000460378, 
ENST00000394253, 
ENST00000373010, ENST00000373006, 
ENST00000297229, ENST00000373009, 
Fusion gene scores* DoF score14 X 12 X 9=15124 X 2 X 4=32
# samples 164
** MAII scorelog2(16/1512*10)=-3.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EPB41 [Title/Abstract] AND USP49 [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
HgeneEPB41

GO:0032092

positive regulation of protein binding

3693401

TgeneUSP49

GO:0016579

protein deubiquitination

14715245

TgeneUSP49

GO:0035616

histone H2B conserved C-terminal lysine deubiquitination

23824326


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
TCGARVLIHCTCGA-MR-A520-01AEPB41chr1

29220349

+USP49chr6

41774749

-
* 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-5UTRENST00000356093ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000356093ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000356093ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000356093ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
intron-intronENST00000356093ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000398863ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000398863ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000398863ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000398863ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
intron-intronENST00000398863ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000343067ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000343067ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000343067ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000343067ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
intron-intronENST00000343067ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000349460ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000349460ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000349460ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000349460ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
intron-intronENST00000349460ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000373800ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000373800ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000373800ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000373800ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
intron-intronENST00000373800ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000347529ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000347529ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000347529ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000347529ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
intron-intronENST00000347529ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-
5UTR-5UTRENST00000373798ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
5UTR-5UTRENST00000373798ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
5UTR-5UTRENST00000373798ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
5UTR-5UTRENST00000373798ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
5UTR-intronENST00000373798ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000373797ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000373797ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000373797ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000373797ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
intron-intronENST00000373797ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000460378ENST00000394253EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000460378ENST00000373010EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000460378ENST00000373006EPB41chr1

29220349

+USP49chr6

41774749

-
intron-5UTRENST00000460378ENST00000297229EPB41chr1

29220349

+USP49chr6

41774749

-
intron-intronENST00000460378ENST00000373009EPB41chr1

29220349

+USP49chr6

41774749

-

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FusionProtFeatures for EPB41_USP49


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPB41

P11171

USP49

Q70CQ1

Specifically deubiquitinates histone H2B at 'Lys-120'(H2BK120Ub). H2BK120Ub is a specific tag for epigenetictranscriptional activation and acts as a regulator of mRNAsplicing. Deubiquitination is required for efficientcotranscriptional splicing of a large set of exons.{ECO:0000269|PubMed:23824326}.

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 EPB41_USP49


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 EPB41_USP49


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
EPB41NUMA1, MYH9, CDK2, VARS, PAICS, TAGLN2, ECHS1, CALR, PFAS, DLG1, NPPA, CASK, TJP2, DYNC1H1, DCTN1, SPTAN1, SPTB, CENPJ, KPNA2, EIF3G, FN1, CLNS1A, RWDD2B, ZCCHC10, ABCE1, SF3A1, SF3A3, NTRK1, MED4, CDH1, TRIM25USP49CETN1, CETN2, CETN3, COPA, F7, FKBP5, HADHA, MCM6, PDCD2, PPM1G, PPP5C, PRKACA, RPN1, SLC39A7, PPP6R2, HUWE1, LRPPRC, IPO7, STIP1, KRR1, PPP6R1, ANKRD28, DICER1, STAMBPL1, YARS2, UBR5, PPP6R3, IPO9, SHCBP1, NUP85, USP44, SHPRH, ANKRD52, TRIM35, RBCK1, HIST2H2BE, RUVBL1, PSMC5, TMEM173


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 EPB41_USP49


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 EPB41_USP49


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPB41C0025202melanoma1CTD_human