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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:DOC2B-CCDC91 (FusionGDB2 ID:23737)

Fusion Gene Summary for DOC2B-CCDC91

check button Fusion gene summary
Fusion gene informationFusion gene name: DOC2B-CCDC91
Fusion gene ID: 23737
HgeneTgene
Gene symbol

DOC2B

CCDC91

Gene ID

8447

55297

Gene namedouble C2 domain betacoiled-coil domain containing 91
SynonymsDOC2BLHSD8|p56
Cytomap

17p13.3

12p11.22

Type of geneprotein-codingprotein-coding
Descriptiondouble C2-like domain-containing protein betadoc2-betadouble C2-like domains, betacoiled-coil domain-containing protein 91GGA-binding partnerp56 accessory protein
Modification date2020031320200313
UniProtAcc

Q14184

Q7Z6B0

Ensembl transtripts involved in fusion geneENST00000343572, ENST00000609727, 
ENST00000306172, ENST00000381256, 
ENST00000381259, ENST00000539107, 
ENST00000540401, ENST00000545336, 
Fusion gene scores* DoF score4 X 3 X 3=3615 X 14 X 9=1890
# samples 417
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(17/1890*10)=-3.47477958297073
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DOC2B [Title/Abstract] AND CCDC91 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDOC2B(30898)-CCDC91(28286185), # 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

check buttonFusion gene breakpoints across DOC2B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CCDC91 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4OVTCGA-24-1105-01ADOC2Bchr17

30898

-CCDC91chr12

28286185

+


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Fusion Gene ORF analysis for DOC2B-CCDC91

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-intronENST00000343572ENST00000306172DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5CDS-intronENST00000343572ENST00000381256DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5CDS-intronENST00000343572ENST00000381259DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5CDS-intronENST00000343572ENST00000539107DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5CDS-intronENST00000343572ENST00000540401DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5CDS-intronENST00000343572ENST00000545336DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5UTR-intronENST00000609727ENST00000306172DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5UTR-intronENST00000609727ENST00000381256DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5UTR-intronENST00000609727ENST00000381259DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5UTR-intronENST00000609727ENST00000539107DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5UTR-intronENST00000609727ENST00000540401DOC2Bchr17

30898

-CCDC91chr12

28286185

+
5UTR-intronENST00000609727ENST00000545336DOC2Bchr17

30898

-CCDC91chr12

28286185

+

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 DOC2B-CCDC91


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.

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.

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Fusion Protein Features for DOC2B-CCDC91


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/:30898/:28286185)
- 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
DOC2B

Q14184

CCDC91

Q7Z6B0

FUNCTION: Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes (By similarity). {ECO:0000250, ECO:0000269|PubMed:9804756}.FUNCTION: Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes. {ECO:0000269|PubMed:17596511}.

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 DOC2B-CCDC91


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 DOC2B-CCDC91


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 DOC2B-CCDC91


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 DOC2B-CCDC91


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource