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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:COL14A1-SREBF2 (FusionGDB2 ID:HG7373TG6721)

Fusion Gene Summary for COL14A1-SREBF2

check button Fusion gene summary
Fusion gene informationFusion gene name: COL14A1-SREBF2
Fusion gene ID: hg7373tg6721
HgeneTgene
Gene symbol

COL14A1

SREBF2

Gene ID

7373

6721

Gene namecollagen type XIV alpha 1 chainsterol regulatory element binding transcription factor 2
SynonymsUNDSREBP-2|SREBP2|bHLHd2
Cytomap('COL14A1')('SREBF2')

8q24.12

22q13.2

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(XIV) chaincollagen, type XIV, alpha 1undulin (fibronectin-tenascin-related)sterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000432943, ENST00000537875, 
ENST00000247781, ENST00000297848, 
ENST00000309791, 
Fusion gene scores* DoF score7 X 13 X 6=54613 X 14 X 6=1092
# samples 1215
** MAII scorelog2(12/546*10)=-2.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/1092*10)=-2.86393845042397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL14A1 [Title/Abstract] AND SREBF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL14A1(121241008)-SREBF2(42271341), # samples:3
Anticipated loss of major functional domain due to fusion event.COL14A1-SREBF2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
COL14A1-SREBF2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
COL14A1-SREBF2 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted 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
TgeneSREBF2

GO:0000122

negative regulation of transcription by RNA polymerase II

15358760|19098903

TgeneSREBF2

GO:0010886

positive regulation of cholesterol storage

15358760

TgeneSREBF2

GO:0032933

SREBP signaling pathway

27614840

TgeneSREBF2

GO:0045944

positive regulation of transcription by RNA polymerase II

12242332|12446768

TgeneSREBF2

GO:0090370

negative regulation of cholesterol efflux

15358760



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
ChimerDB4LUADTCGA-99-AA5R-01ACOL14A1chr8

121241008

-SREBF2chr22

42271341

+
ChimerDB4LUADTCGA-99-AA5R-01ACOL14A1chr8

121241008

+SREBF2chr22

42271341

+
ChimerDB4LUADTCGA-99-AA5RCOL14A1chr8

121241008

+SREBF2chr22

42271341

+


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Fusion Gene ORF analysis for COL14A1-SREBF2

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
3UTR-3CDSENST00000432943ENST00000361204COL14A1chr8

121241008

+SREBF2chr22

42271341

+
3UTR-3CDSENST00000537875ENST00000361204COL14A1chr8

121241008

+SREBF2chr22

42271341

+
3UTR-intronENST00000432943ENST00000491541COL14A1chr8

121241008

+SREBF2chr22

42271341

+
3UTR-intronENST00000537875ENST00000491541COL14A1chr8

121241008

+SREBF2chr22

42271341

+
5CDS-intronENST00000247781ENST00000491541COL14A1chr8

121241008

+SREBF2chr22

42271341

+
5CDS-intronENST00000297848ENST00000491541COL14A1chr8

121241008

+SREBF2chr22

42271341

+
5CDS-intronENST00000309791ENST00000491541COL14A1chr8

121241008

+SREBF2chr22

42271341

+
Frame-shiftENST00000247781ENST00000361204COL14A1chr8

121241008

+SREBF2chr22

42271341

+
Frame-shiftENST00000297848ENST00000361204COL14A1chr8

121241008

+SREBF2chr22

42271341

+
Frame-shiftENST00000309791ENST00000361204COL14A1chr8

121241008

+SREBF2chr22

42271341

+

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 COL14A1-SREBF2


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)
COL14A1chr8121241008+SREBF2chr2242271340+2.96E-050.9999703
COL14A1chr8121241008+SREBF2chr2242271340+2.96E-050.9999703
COL14A1chr8121241008+SREBF2chr2242271340+2.96E-050.9999703
COL14A1chr8121241008+SREBF2chr2242271340+2.96E-050.9999703


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for COL14A1-SREBF2


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/:121241008/:42271341)
- 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
..
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: 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}.

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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Fusion Gene Sequence for COL14A1-SREBF2


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 COL14A1-SREBF2


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 COL14A1-SREBF2


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 COL14A1-SREBF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL14A1C0019193Hepatitis, Toxic1CTD_human
HgeneCOL14A1C0860207Drug-Induced Liver Disease1CTD_human
HgeneCOL14A1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneCOL14A1C1835662Keratosis palmoplantaris papulosa1ORPHANET
HgeneCOL14A1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneCOL14A1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneCOL14A1C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgeneC0020445Hypercholesterolemia, Familial1GENOMICS_ENGLAND
TgeneC0021655Insulin Resistance1CTD_human
TgeneC0022661Kidney Failure, Chronic1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0920563Insulin Sensitivity1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human