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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:MYRIP-BABAM1 (FusionGDB2 ID:56851)

Fusion Gene Summary for MYRIP-BABAM1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYRIP-BABAM1
Fusion gene ID: 56851
HgeneTgene
Gene symbol

MYRIP

BABAM1

Gene ID

25924

29086

Gene namemyosin VIIA and Rab interacting proteinBRISC and BRCA1 A complex member 1
SynonymsSLAC2-C|SLAC2CC19orf62|HSPC142|MERIT40|NBA1
Cytomap

3p22.1

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionrab effector MyRIPSlp homologue lacking C2 domainsexophilin-8myosin-VIIa- and Rab-interacting proteinslp homolog lacking C2 domains csynaptotagmin-like protein homologue lacking C2 domains-csynaptotagmin-like protein lacking C2 domains CBRISC and BRCA1-A complex member 1BRCA1-A complex subunit MERIT40mediator of RAP80 interactions and targeting subunit of 40 kDamediator of Rap80 interactions and targeting 40 kDanew component of the BRCA1-A complexnew component of the BRCAA1 A comple
Modification date2020032020200313
UniProtAcc

Q8NFW9

Q9NWV8

Ensembl transtripts involved in fusion geneENST00000302541, ENST00000396217, 
ENST00000425621, ENST00000444716, 
ENST00000459828, ENST00000539167, 
ENST00000359435, ENST00000447614, 
ENST00000598188, ENST00000601043, 
ENST00000448635, ENST00000595632, 
Fusion gene scores* DoF score5 X 4 X 5=1005 X 4 X 3=60
# samples 65
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYRIP [Title/Abstract] AND BABAM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYRIP(39851407)-BABAM1(17384713), # samples:2
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 MYRIP (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 BABAM1 (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
ChimerDB4STADTCGA-D7-6527-01AMYRIPchr3

39851407

+BABAM1chr19

17384713

+


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Fusion Gene ORF analysis for MYRIP-BABAM1

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
5UTR-3CDSENST00000302541ENST00000359435MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000302541ENST00000447614MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000302541ENST00000598188MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000302541ENST00000601043MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000396217ENST00000359435MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000396217ENST00000447614MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000396217ENST00000598188MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000396217ENST00000601043MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000425621ENST00000359435MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000425621ENST00000447614MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000425621ENST00000598188MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3CDSENST00000425621ENST00000601043MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3UTRENST00000302541ENST00000448635MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3UTRENST00000396217ENST00000448635MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-3UTRENST00000425621ENST00000448635MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-intronENST00000302541ENST00000595632MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-intronENST00000396217ENST00000595632MYRIPchr3

39851407

+BABAM1chr19

17384713

+
5UTR-intronENST00000425621ENST00000595632MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000444716ENST00000359435MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000444716ENST00000447614MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000444716ENST00000598188MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000444716ENST00000601043MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000459828ENST00000359435MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000459828ENST00000447614MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000459828ENST00000598188MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000459828ENST00000601043MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000539167ENST00000359435MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000539167ENST00000447614MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000539167ENST00000598188MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3CDSENST00000539167ENST00000601043MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3UTRENST00000444716ENST00000448635MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3UTRENST00000459828ENST00000448635MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-3UTRENST00000539167ENST00000448635MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-intronENST00000444716ENST00000595632MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-intronENST00000459828ENST00000595632MYRIPchr3

39851407

+BABAM1chr19

17384713

+
intron-intronENST00000539167ENST00000595632MYRIPchr3

39851407

+BABAM1chr19

17384713

+

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 MYRIP-BABAM1


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.
genomic feature of top 1%

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Fusion Protein Features for MYRIP-BABAM1


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/:39851407/:17384713)
- 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
MYRIP

Q8NFW9

BABAM1

Q9NWV8

FUNCTION: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity). {ECO:0000250}.FUNCTION: Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665). In these 2 complexes, it is probably required to maintain the stability of BABAM2 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). {ECO:0000269|PubMed:19261746, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19261749}.

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 MYRIP-BABAM1


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 MYRIP-BABAM1


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 MYRIP-BABAM1


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 MYRIP-BABAM1


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