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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: 4482

FusionGeneSummary for BSCL2_C14orf159

check button Fusion gene summary
Fusion gene informationFusion gene name: BSCL2_C14orf159
Fusion gene ID: 4482
HgeneTgene
Gene symbol

BSCL2

C14orf159

Gene ID

26580

Gene nameBSCL2, seipin lipid droplet biogenesis associated
SynonymsGNG3LG|HMN5|PELD|SPG17
Cytomap

11q12.3

Type of geneprotein-coding
DescriptionseipinBerardinelli-Seip congenital lipodystrophy 2 (seipin)Bernardinelli-Seip congenital lipodystrophy type 2 protein
Modification date20180525
UniProtAcc

Q96G97

Ensembl transtripts involved in fusion geneENST00000405837, ENST00000433053, 
ENST00000278893, ENST00000360796, 
ENST00000403550, ENST00000407022, 
ENST00000421906, ENST00000537604, 
ENST00000298858, ENST00000520328, 
ENST00000256324, ENST00000521077, 
ENST00000518665, ENST00000518868, 
ENST00000519019, ENST00000523816, 
ENST00000525393, ENST00000428926, 
ENST00000522322, ENST00000523771, 
ENST00000412671, ENST00000517877, 
ENST00000523576, 
Fusion gene scores* DoF score5 X 5 X 2=504 X 4 X 4=64
# samples 64
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BSCL2 [Title/Abstract] AND C14orf159 [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
TCGALDUCECTCGA-PG-A914-01ABSCL2chr11

62469940

-C14orf159chr14

91662719

+
* 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
5CDS-intronENST00000405837ENST00000298858BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000520328BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000256324BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000521077BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000518665BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000518868BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000519019BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000523816BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000525393BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000428926BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000522322BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000523771BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000412671BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000517877BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000405837ENST00000523576BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000298858BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000520328BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000256324BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000521077BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000518665BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000518868BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000519019BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000523816BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000525393BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000428926BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000522322BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000523771BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000412671BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000517877BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000433053ENST00000523576BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000298858BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000520328BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000256324BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000521077BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000518665BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000518868BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000519019BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000523816BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000525393BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000428926BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000522322BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000523771BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000412671BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000517877BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000278893ENST00000523576BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000298858BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000520328BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000256324BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000521077BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000518665BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000518868BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000519019BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000523816BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000525393BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000428926BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000522322BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000523771BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000412671BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000517877BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000360796ENST00000523576BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000298858BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000520328BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000256324BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000521077BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000518665BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000518868BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000519019BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000523816BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000525393BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000428926BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000522322BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000523771BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000412671BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000517877BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000403550ENST00000523576BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000298858BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000520328BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000256324BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000521077BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000518665BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000518868BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000519019BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000523816BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000525393BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000428926BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000522322BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000523771BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000412671BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000517877BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000407022ENST00000523576BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000298858BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000520328BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000256324BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000521077BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000518665BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000518868BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000519019BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000523816BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000525393BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000428926BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000522322BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000523771BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000412671BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000517877BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5CDS-intronENST00000421906ENST00000523576BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000298858BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000520328BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000256324BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000521077BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000518665BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000518868BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000519019BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000523816BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000525393BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000428926BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000522322BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000523771BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000412671BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000517877BSCL2chr11

62469940

-C14orf159chr14

91662719

+
5UTR-intronENST00000537604ENST00000523576BSCL2chr11

62469940

-C14orf159chr14

91662719

+

Top

FusionProtFeatures for BSCL2_C14orf159


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

Q96G97

C14orf159

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}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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


Top

FusionGeneSequence for BSCL2_C14orf159


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).

Top

FusionGenePPI for BSCL2_C14orf159


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
BSCL2TMEM19, SMIM3, USE1, CANX, NSG1, PLEKHF2, SMLR1, TSPAN5, ICAM2, IL20RB, MCOLN3, TSPAN17, GABRE, TMEM25, KIAA2013, HDGFRP3, DNAJC13, POM121, POM121C, SLC35B2, ZDHHC17, SC5D, GPR89A, CD47, SLC39A3, TMPPE, CHPT1, SCAMP2, ATAD1, ERGIC3, GLRA2, GABRA6, GABRG2, ASIC4, UPK1A, HTR3A, EBP, B4GAT1C14orf159APP, PSMA3, C14orf159, MSRB2, BOLA3, C17orf89, SLC25A6, PAK7


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


Top

RelatedDrugs for BSCL2_C14orf159


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

Top

RelatedDiseases for BSCL2_C14orf159


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