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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:NCOR1-COL6A3 (FusionGDB2 ID:HG9611TG1293)

Fusion Gene Summary for NCOR1-COL6A3

check button Fusion gene summary
Fusion gene informationFusion gene name: NCOR1-COL6A3
Fusion gene ID: hg9611tg1293
HgeneTgene
Gene symbol

NCOR1

COL6A3

Gene ID

9611

1293

Gene namenuclear receptor corepressor 1collagen type VI alpha 3 chain
SynonymsN-CoR|N-CoR1|PPP1R109|TRAC1|hN-CoRBTHLM1|DYT27|UCMD1
Cytomap('NCOR1')('COL6A3')

17p12-p11.2

2q37.3

Type of geneprotein-codingprotein-coding
Descriptionnuclear receptor corepressor 1protein phosphatase 1, regulatory subunit 109thyroid hormone- and retinoic acid receptor-associated corepressor 1collagen alpha-3(VI) chaincollagen VI, alpha-3 polypeptidecollagen, type VI, alpha 3epididymis secretory sperm binding protein
Modification date2020031320200328
UniProtAcc.

P12111

Ensembl transtripts involved in fusion geneENST00000268712, ENST00000395848, 
ENST00000395851, ENST00000395857, 
ENST00000583226, 
Fusion gene scores* DoF score30 X 30 X 13=1170013 X 13 X 4=676
# samples 3313
** MAII scorelog2(33/11700*10)=-5.14789869511231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/676*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NCOR1 [Title/Abstract] AND COL6A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNCOR1(16090849)-COL6A3(238232661), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneNCOR1

GO:0046329

negative regulation of JNK cascade

11931768



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ABI491432NCOR1chr17

16090849

-COL6A3chr2

238232661

+


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Fusion Gene ORF analysis for NCOR1-COL6A3

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-3UTRENST00000268712ENST00000295550NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000268712ENST00000347401NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000268712ENST00000353578NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395848ENST00000295550NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395848ENST00000347401NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395848ENST00000353578NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395851ENST00000295550NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395851ENST00000347401NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395851ENST00000353578NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395857ENST00000295550NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395857ENST00000347401NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000395857ENST00000353578NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000583226ENST00000295550NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000583226ENST00000347401NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-3UTRENST00000583226ENST00000353578NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-5UTRENST00000268712ENST00000473258NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-5UTRENST00000395848ENST00000473258NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-5UTRENST00000395851ENST00000473258NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-5UTRENST00000395857ENST00000473258NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-5UTRENST00000583226ENST00000473258NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000268712ENST00000346358NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000268712ENST00000392003NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000268712ENST00000392004NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000268712ENST00000409809NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000268712ENST00000472056NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395848ENST00000346358NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395848ENST00000392003NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395848ENST00000392004NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395848ENST00000409809NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395848ENST00000472056NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395851ENST00000346358NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395851ENST00000392003NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395851ENST00000392004NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395851ENST00000409809NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395851ENST00000472056NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395857ENST00000346358NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395857ENST00000392003NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395857ENST00000392004NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395857ENST00000409809NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000395857ENST00000472056NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000583226ENST00000346358NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000583226ENST00000392003NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000583226ENST00000392004NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000583226ENST00000409809NCOR1chr17

16090849

-COL6A3chr2

238232661

+
intron-intronENST00000583226ENST00000472056NCOR1chr17

16090849

-COL6A3chr2

238232661

+

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 NCOR1-COL6A3


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)


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Fusion Protein Features for NCOR1-COL6A3


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/:16090849/:238232661)
- 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
.COL6A3

P12111

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: Collagen VI acts as a cell-binding protein.

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 NCOR1-COL6A3


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 NCOR1-COL6A3


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 NCOR1-COL6A3


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 NCOR1-COL6A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNCOR1C0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneNCOR1C0005695Bladder Neoplasm1CTD_human
HgeneNCOR1C0006142Malignant neoplasm of breast1CGI;CTD_human
HgeneNCOR1C0007138Carcinoma, Transitional Cell1CTD_human
HgeneNCOR1C0014175Endometriosis1CTD_human
HgeneNCOR1C0017636Glioblastoma1CTD_human
HgeneNCOR1C0023903Liver neoplasms1CTD_human
HgeneNCOR1C0033578Prostatic Neoplasms1CTD_human
HgeneNCOR1C0269102Endometrioma1CTD_human
HgeneNCOR1C0334588Giant Cell Glioblastoma1CTD_human
HgeneNCOR1C0345904Malignant neoplasm of liver1CTD_human
HgeneNCOR1C0376358Malignant neoplasm of prostate1CTD_human
HgeneNCOR1C0678222Breast Carcinoma1CGI;CTD_human
HgeneNCOR1C0857007Hyperbilirubinemia, Neonatal1CTD_human
HgeneNCOR1C1257931Mammary Neoplasms, Human1CTD_human
HgeneNCOR1C1458155Mammary Neoplasms1CTD_human
HgeneNCOR1C1565885Direct Hyperbilirubinemia, Neonatal1CTD_human
HgeneNCOR1C1565886Indirect Hyperbilirubinemia, Neonatal1CTD_human
HgeneNCOR1C1621958Glioblastoma Multiforme1CTD_human
HgeneNCOR1C4704874Mammary Carcinoma, Human1CTD_human
TgeneC1834674BETHLEM MYOPATHY 15CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0410179Ullrich congenital muscular dystrophy 14CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4225336DYSTONIA 272GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0027708Nephroblastoma1CTD_human
TgeneC2930471Bilateral Wilms Tumor1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4552766Miscarriage1CTD_human