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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: 8399

FusionGeneSummary for CREB3L1_COL6A3

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB3L1_COL6A3
Fusion gene ID: 8399
HgeneTgene
Gene symbol

CREB3L1

COL6A3

Gene ID

90993

1293

Gene namecAMP responsive element binding protein 3 like 1collagen type VI alpha 3 chain
SynonymsOASISBTHLM1|DYT27|UCMD1
Cytomap

11p11.2

2q37.3

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 3-like protein 1BBF-2 homologcAMP-responsive element-binding protein 3-like protein 1old astrocyte specifically-induced substancecollagen alpha-3(VI) chaincollagen VI, alpha-3 polypeptidecollagen, type VI, alpha 3
Modification date2018052320180523
UniProtAcc

Q96BA8

P12111

Ensembl transtripts involved in fusion geneENST00000529193, ENST00000288400, 
ENST00000534616, 		ENST00000347401, 
ENST00000353578, ENST00000295550, 
ENST00000472056, ENST00000409809, 
ENST00000346358, ENST00000392004, 
ENST00000392003, ENST00000473258, 
Fusion gene scores* DoF score3 X 3 X 2=188 X 8 X 2=128
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CREB3L1 [Title/Abstract] AND COL6A3 [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
HgeneCREB3L1

GO:0010629

negative regulation of gene expression

27121396

HgeneCREB3L1

GO:0032967

positive regulation of collagen biosynthetic process

25310401

HgeneCREB3L1

GO:0040037

negative regulation of fibroblast growth factor receptor signaling pathway

27121396

HgeneCREB3L1

GO:0045892

negative regulation of transcription, DNA-templated

27121396


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
ChiTaRS3.1CA447052CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
* 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
3UTR-intronENST00000529193ENST00000347401CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000529193ENST00000353578CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000529193ENST00000295550CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000529193ENST00000472056CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000529193ENST00000409809CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000529193ENST00000346358CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000529193ENST00000392004CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000529193ENST00000392003CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000529193ENST00000473258CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000347401CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000353578CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000295550CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000472056CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000409809CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000346358CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000392004CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000392003CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
3UTR-intronENST00000288400ENST00000473258CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000347401CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000353578CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000295550CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000472056CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000409809CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000346358CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000392004CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000392003CREB3L1chr11

46342597

-COL6A3chr2

238261986

+
intron-intronENST00000534616ENST00000473258CREB3L1chr11

46342597

-COL6A3chr2

238261986

+

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FusionProtFeatures for CREB3L1_COL6A3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CREB3L1

Q96BA8

COL6A3

P12111

Transcription factor involved in unfolded proteinresponse (UPR). Binds the DNA consensus sequence 5'-GTGXGCXGC-3'(PubMed:21767813). In the absence of endoplasmic reticulum (ER)stress, inserted into ER membranes, with N-terminal DNA-bindingand transcription activation domains oriented toward the cytosolicface of the membrane. In response to ER stress, transported to theGolgi, where it is cleaved in a site-specific manner by residentproteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminalcytosolic domain is translocated to the nucleus to effecttranscription of specific target genes. Plays a critical role inbone formation through the transcription of COL1A1, and possiblyCOL1A2, and the secretion of bone matrix proteins. Directly bindsto the UPR element (UPRE)-like sequence in an osteoblast-specificCOL1A1 promoter region and induces its transcription. Does notregulate COL1A1 in other tissues, such as skin (By similarity).Required to protect astrocytes from ER stress-induced cell death.In astrocytes, binds to the cAMP response element (CRE) of theBiP/HSPA5 promoter and participate in its transcriptionalactivation (By similarity). Required for TGFB1 to activate genesinvolved in the assembly of collagen extracellular matrix(PubMed:25310401). {ECO:0000250|UniProtKB:Q9Z125,ECO:0000269|PubMed:12054625, ECO:0000269|PubMed:21767813,ECO:0000269|PubMed:25310401}. (Microbial infection) May play a role in limiting virusspread by inhibiting proliferation of virus-infected cells. Uponinfection with diverse DNA and RNA viruses, inhibits cell-cycleprogression by binding to promoters and activating transcriptionof genes encoding cell-cycle inhibitors, such as p21/CDKN1A(PubMed:21767813). {ECO:0000269|PubMed:21767813}.

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 CREB3L1_COL6A3


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 CREB3L1_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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RelatedDrugs for CREB3L1_COL6A3


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 CREB3L1_COL6A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL6A3C1834674Bethlem myopathy4CTD_human;ORPHANET;UNIPROT
TgeneCOL6A3C0000786Spontaneous abortion1CTD_human
TgeneCOL6A3C0410179Scleroatonic muscular dystrophy1CTD_human;ORPHANET;UNIPROT
TgeneCOL6A3C4225336DYSTONIA 271ORPHANET;UNIPROT