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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:C11orf48-BSCL2 (FusionGDB2 ID:HG102288414TG26580)

Fusion Gene Summary for C11orf48-BSCL2

check button Fusion gene summary
Fusion gene informationFusion gene name: C11orf48-BSCL2
Fusion gene ID: hg102288414tg26580
HgeneTgene
Gene symbol

C11orf48

BSCL2

Gene ID

102288414

26580

Gene namechromosome 11 open reading frame 98BSCL2 lipid droplet biogenesis associated, seipin
SynonymsC11orf48GNG3LG|HMN5|PELD|SPG17
Cytomap('C11orf48')('BSCL2')

11q12.3

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C11orf98seipinBSCL2, seipin lipid droplet biogenesis associatedBerardinelli-Seip congenital lipodystrophy 2 (seipin)Bernardinelli-Seip congenital lipodystrophy type 2 protein
Modification date2020031320200327
UniProtAcc.

Q96G97

Ensembl transtripts involved in fusion geneENST00000354588, ENST00000431002, 
ENST00000532208, ENST00000524958, 
ENST00000525675, 
Fusion gene scores* DoF score2 X 2 X 2=812 X 5 X 9=540
# samples 215
** MAII scorelog2(2/8*10)=1.32192809488736log2(15/540*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C11orf48 [Title/Abstract] AND BSCL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC11orf48(62437113)-BSCL2(62462183), # samples:2
Anticipated loss of major functional domain due to fusion event.C11orf48-BSCL2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
C11orf48-BSCL2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
C11orf48-BSCL2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
C11orf48-BSCL2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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 buttonFusion gene breakpoints across C11orf48 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across BSCL2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LGGTCGA-S9-A7R8-01AC11orf48chr11

62437113

-BSCL2chr11

62462183

-
ChimerDB4LGGTCGA-S9-A7R8C11orf48chr11

62437113

-BSCL2chr11

62462183

-


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Fusion Gene ORF analysis for C11orf48-BSCL2

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-5UTRENST00000354588ENST00000537604C11orf48chr11

62437113

-BSCL2chr11

62462183

-
5CDS-5UTRENST00000431002ENST00000537604C11orf48chr11

62437113

-BSCL2chr11

62462183

-
5CDS-5UTRENST00000532208ENST00000537604C11orf48chr11

62437113

-BSCL2chr11

62462183

-
Frame-shiftENST00000532208ENST00000278893C11orf48chr11

62437113

-BSCL2chr11

62462183

-
Frame-shiftENST00000532208ENST00000360796C11orf48chr11

62437113

-BSCL2chr11

62462183

-
Frame-shiftENST00000532208ENST00000403550C11orf48chr11

62437113

-BSCL2chr11

62462183

-
Frame-shiftENST00000532208ENST00000405837C11orf48chr11

62437113

-BSCL2chr11

62462183

-
Frame-shiftENST00000532208ENST00000407022C11orf48chr11

62437113

-BSCL2chr11

62462183

-
Frame-shiftENST00000532208ENST00000421906C11orf48chr11

62437113

-BSCL2chr11

62462183

-
Frame-shiftENST00000532208ENST00000433053C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000354588ENST00000278893C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000354588ENST00000360796C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000354588ENST00000403550C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000354588ENST00000405837C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000354588ENST00000407022C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000354588ENST00000421906C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000354588ENST00000433053C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000431002ENST00000278893C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000431002ENST00000360796C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000431002ENST00000403550C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000431002ENST00000405837C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000431002ENST00000407022C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000431002ENST00000421906C11orf48chr11

62437113

-BSCL2chr11

62462183

-
In-frameENST00000431002ENST00000433053C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000524958ENST00000278893C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000524958ENST00000360796C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000524958ENST00000403550C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000524958ENST00000405837C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000524958ENST00000407022C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000524958ENST00000421906C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000524958ENST00000433053C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000525675ENST00000278893C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000525675ENST00000360796C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000525675ENST00000403550C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000525675ENST00000405837C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000525675ENST00000407022C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000525675ENST00000421906C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-3CDSENST00000525675ENST00000433053C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-5UTRENST00000524958ENST00000537604C11orf48chr11

62437113

-BSCL2chr11

62462183

-
intron-5UTRENST00000525675ENST00000537604C11orf48chr11

62437113

-BSCL2chr11

62462183

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for C11orf48-BSCL2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for C11orf48-BSCL2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:62437113/chr11:62462183)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q96G97

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:31708432, PubMed:30293840). In association with TMEM159/LDAF1, defines the sites of LD formation in the ER (PubMed:31708432). Also required for growth and maturation of small nascent LDs into larger mature LDs (PubMed:27564575). Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs (PubMed:31178403, PubMed:27879284). Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts (PubMed:30970241). Binds anionic phospholipids including phosphatidic acid (PubMed:30293840). Plays an important role in the differentiation and development of adipocytes (By similarity). {ECO:0000250|UniProtKB:Q9Z2E9, ECO:0000269|PubMed:19278620, ECO:0000269|PubMed:21533227, ECO:0000269|PubMed:27564575, ECO:0000269|PubMed:27879284, ECO:0000269|PubMed:30293840, ECO:0000269|PubMed:30970241, ECO:0000269|PubMed:31178403, ECO:0000269|PubMed:31708432}.

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
HgeneC11orf48chr11:62437113chr11:62462183ENST00000431002-151_128130290.0DomainLBH
TgeneBSCL2chr11:62437113chr11:62462183ENST00000278893210264_39898253.66666666666666Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST00000360796211264_398162463.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST00000403550211264_39898399.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST00000407022211264_39898399.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST00000421906211264_39898399.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST00000433053312264_398162463.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST00000278893210243_26398253.66666666666666TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST00000360796211243_263162463.0TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST00000403550211243_26398399.0TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST00000407022211243_26398399.0TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST00000421906211243_26398399.0TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST00000433053312243_263162463.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC11orf48chr11:62437113chr11:62462183ENST00000354588-371_128104264.0DomainLBH
HgeneC11orf48chr11:62437113chr11:62462183ENST00000532208-371_128104264.0DomainLBH
TgeneBSCL2chr11:62437113chr11:62462183ENST000002788932101_2698253.66666666666666Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST0000027889321048_24298253.66666666666666Topological domainLumenal
TgeneBSCL2chr11:62437113chr11:62462183ENST000003607962111_26162463.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST0000036079621148_242162463.0Topological domainLumenal
TgeneBSCL2chr11:62437113chr11:62462183ENST000004035502111_2698399.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST0000040355021148_24298399.0Topological domainLumenal
TgeneBSCL2chr11:62437113chr11:62462183ENST000004070222111_2698399.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST0000040702221148_24298399.0Topological domainLumenal
TgeneBSCL2chr11:62437113chr11:62462183ENST000004219062111_2698399.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST0000042190621148_24298399.0Topological domainLumenal
TgeneBSCL2chr11:62437113chr11:62462183ENST000004330533121_26162463.0Topological domainCytoplasmic
TgeneBSCL2chr11:62437113chr11:62462183ENST0000043305331248_242162463.0Topological domainLumenal
TgeneBSCL2chr11:62437113chr11:62462183ENST0000027889321027_4798253.66666666666666TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST0000036079621127_47162463.0TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST0000040355021127_4798399.0TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST0000040702221127_4798399.0TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST0000042190621127_4798399.0TransmembraneHelical
TgeneBSCL2chr11:62437113chr11:62462183ENST0000043305331227_47162463.0TransmembraneHelical


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Fusion Gene Sequence for C11orf48-BSCL2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for C11orf48-BSCL2


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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Related Drugs for C11orf48-BSCL2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for C11orf48-BSCL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC2931276Spastic paraplegia 178CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1833308NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1720863Congenital Generalized Lipodystrophy Type 24CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4014700ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0023787Lipodystrophy1CTD_human
TgeneC0028960Oligospermia1CTD_human
TgeneC0034012Delayed Puberty1CTD_human
TgeneC0221032Familial generalized lipodystrophy1CTD_human;GENOMICS_ENGLAND
TgeneC0403823Asthenozoospermia1CTD_human
TgeneC0525045Mood Disorders1PSYGENET