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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:MARC2-RAB3IP (FusionGDB2 ID:12)

Fusion Gene Summary for MARC2-RAB3IP

check button Fusion gene summary
Fusion gene informationFusion gene name: MARC2-RAB3IP
Fusion gene ID: 12
HgeneTgene
Gene symbol

MARC2

RAB3IP

Gene ID

54996

117177

Gene namemitochondrial amidoxime reducing component 2RAB3A interacting protein
SynonymsMARC2|MOSC2RABIN3|RABIN8
Cytomap

1q41

12q15

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial amidoxime reducing component 2MOCO sulphurase C-terminal domain containing 2MOSC domain-containing protein 2, mitochondrialmoco sulfurase C-terminal domain-containing protein 2molybdenum cofactor sulfurase C-terminal domain-containing prrab-3A-interacting proteinSSX2 interacting proteinrab3A-interacting proteinrabin-3
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000359316, ENST00000366913, 
ENST00000472447, 
ENST00000247833, 
ENST00000378815, ENST00000325555, 
ENST00000483530, ENST00000550536, 
ENST00000362025, ENST00000551641, 
ENST00000553099, ENST00000550847, 
Fusion gene scores* DoF score2 X 2 X 1=420 X 17 X 10=3400
# samples 229
** MAII scorelog2(2/4*10)=2.32192809488736log2(29/3400*10)=-3.55140994101013
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MARC2 [Title/Abstract] AND RAB3IP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMARC2(220928462)-RAB3IP(70206744), # 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
HgeneMARC2

GO:0042126

nitrate metabolic process

20861021

HgeneMARC2

GO:0055114

oxidation-reduction process

20861021

TgeneRAB3IP

GO:0006612

protein targeting to membrane

23382462


check buttonFusion gene breakpoints across MARC2 (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 RAB3IP (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
ChimerDB4BRCATCGA-EW-A6SA-01AMARC2chr1

220928462

+RAB3IPchr12

70206744

+


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Fusion Gene ORF analysis for MARC2-RAB3IP

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
Frame-shiftENST00000359316ENST00000247833MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000359316ENST00000378815MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000359316ENST00000325555MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000359316ENST00000483530MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000359316ENST00000550536MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000359316ENST00000362025MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000359316ENST00000551641MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000359316ENST00000553099MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000359316ENST00000550847MARC2chr1

220928462

+RAB3IPchr12

70206744

+
Frame-shiftENST00000366913ENST00000247833MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000366913ENST00000378815MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000366913ENST00000325555MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000366913ENST00000483530MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000366913ENST00000550536MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000366913ENST00000362025MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000366913ENST00000551641MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000366913ENST00000553099MARC2chr1

220928462

+RAB3IPchr12

70206744

+
5CDS-intronENST00000366913ENST00000550847MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-3CDSENST00000472447ENST00000247833MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-intronENST00000472447ENST00000378815MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-intronENST00000472447ENST00000325555MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-intronENST00000472447ENST00000483530MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-intronENST00000472447ENST00000550536MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-intronENST00000472447ENST00000362025MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-intronENST00000472447ENST00000551641MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-intronENST00000472447ENST00000553099MARC2chr1

220928462

+RAB3IPchr12

70206744

+
intron-intronENST00000472447ENST00000550847MARC2chr1

220928462

+RAB3IPchr12

70206744

+

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 MARC2-RAB3IP


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 MARC2-RAB3IP


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 MARC2-RAB3IP


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 MARC2-RAB3IP


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 MARC2-RAB3IP


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 MARC2-RAB3IP


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