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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: 4484

FusionGeneSummary for BSCL2_SENP5

check button Fusion gene summary
Fusion gene informationFusion gene name: BSCL2_SENP5
Fusion gene ID: 4484
HgeneTgene
Gene symbol

BSCL2

SENP5

Gene ID

26580

205564

Gene nameBSCL2, seipin lipid droplet biogenesis associatedSUMO specific peptidase 5
SynonymsGNG3LG|HMN5|PELD|SPG17-
Cytomap

11q12.3

3q29

Type of geneprotein-codingprotein-coding
DescriptionseipinBerardinelli-Seip congenital lipodystrophy 2 (seipin)Bernardinelli-Seip congenital lipodystrophy type 2 proteinsentrin-specific protease 5SUMO1/sentrin specific peptidase 5SUMO1/sentrin specific protease 5sentrin/SUMO-specific protease SENP5
Modification date2018052520180523
UniProtAcc

Q96G97

Q96HI0

Ensembl transtripts involved in fusion geneENST00000405837, ENST00000433053, 
ENST00000278893, ENST00000360796, 
ENST00000403550, ENST00000407022, 
ENST00000421906, ENST00000537604, 
ENST00000445299, ENST00000323460, 
ENST00000419026, ENST00000489744, 
Fusion gene scores* DoF score5 X 5 X 2=502 X 2 X 2=8
# samples 62
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/8*10)=1.32192809488736
Context

PubMed: BSCL2 [Title/Abstract] AND SENP5 [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

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
ChiTaRS3.1BF055091BSCL2chr11

62457800

+SENP5chr3

196658460

-
* 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-intronENST00000405837ENST00000445299BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-3UTRENST00000405837ENST00000323460BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000405837ENST00000419026BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000405837ENST00000489744BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000433053ENST00000445299BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-3UTRENST00000433053ENST00000323460BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000433053ENST00000419026BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000433053ENST00000489744BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000278893ENST00000445299BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-3UTRENST00000278893ENST00000323460BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000278893ENST00000419026BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000278893ENST00000489744BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000360796ENST00000445299BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-3UTRENST00000360796ENST00000323460BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000360796ENST00000419026BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000360796ENST00000489744BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000403550ENST00000445299BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-3UTRENST00000403550ENST00000323460BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000403550ENST00000419026BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000403550ENST00000489744BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000407022ENST00000445299BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-3UTRENST00000407022ENST00000323460BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000407022ENST00000419026BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000407022ENST00000489744BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000421906ENST00000445299BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-3UTRENST00000421906ENST00000323460BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000421906ENST00000419026BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000421906ENST00000489744BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000537604ENST00000445299BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-3UTRENST00000537604ENST00000323460BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000537604ENST00000419026BSCL2chr11

62457800

+SENP5chr3

196658460

-
intron-intronENST00000537604ENST00000489744BSCL2chr11

62457800

+SENP5chr3

196658460

-

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FusionProtFeatures for BSCL2_SENP5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BSCL2

Q96G97

SENP5

Q96HI0

Is a regulator of lipid catabolism essential foradipocyte differentiation. May also be involved in the centralregulation of energy homeostasis (By similarity). Necessary forcorrect lipid storage and lipid droplets maintenance; may play atissue-autonomous role in controlling lipid storage in adipocytesand in preventing ectopic lipid droplet formation in non-adiposetissues. {ECO:0000250, ECO:0000269|PubMed:19278620,ECO:0000269|PubMed:21533227}. Protease that catalyzes two essential functions in theSUMO pathway: processing of full-length SUMO3 to its mature formand deconjugation of SUMO2 and SUMO3 from targeted proteins. Hasweak proteolytic activity against full-length SUMO1 or SUMO1conjugates. Required for cell division.{ECO:0000269|PubMed:16608850, ECO:0000269|PubMed:16738315}.

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 BSCL2_SENP5


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 BSCL2_SENP5


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 BSCL2_SENP5


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 BSCL2_SENP5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBSCL2C2931276Spastic paraplegia 173CTD_human;ORPHANET;UNIPROT
HgeneBSCL2C1720863Congenital Generalized Lipodystrophy Type 22UNIPROT
HgeneBSCL2C0023787Lipodystrophy1CTD_human;HPO
HgeneBSCL2C0028960Oligospermia1CTD_human
HgeneBSCL2C0034012Delayed Puberty1CTD_human
HgeneBSCL2C0403823Asthenozoospermia1CTD_human
HgeneBSCL2C0525045Mood Disorders1PSYGENET