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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:BAIAP2-MAT2A (FusionGDB2 ID:HG10458TG4144)

Fusion Gene Summary for BAIAP2-MAT2A

check button Fusion gene summary
Fusion gene informationFusion gene name: BAIAP2-MAT2A
Fusion gene ID: hg10458tg4144
HgeneTgene
Gene symbol

BAIAP2

MAT2A

Gene ID

10458

4144

Gene nameBAR/IMD domain containing adaptor protein 2methionine adenosyltransferase 2A
SynonymsBAP2|FLAF3|IRSP53|WAMLMATA2|MATII|SAMS2
Cytomap('BAIAP2')('MAT2A')

17q25.3

2p11.2

Type of geneprotein-codingprotein-coding
Descriptionbrain-specific angiogenesis inhibitor 1-associated protein 2BAI1 associated protein 2IRS-58IRSp53/58WASP and MIM likefas ligand-associated factor 3insulin receptor substrate of 53 kDainsulin receptor substrate p53/p58insulin receptor substrate proS-adenosylmethionine synthase isoform type-2MAT 2MAT-IIadoMet synthase 2adoMet synthetase 2methionine adenosyltransferase 2methionine adenosyltransferase II, alphatesticular tissue protein Li 121
Modification date2020032720200313
UniProtAcc

Q9UQB8

.
Ensembl transtripts involved in fusion geneENST00000321280, ENST00000321300, 
ENST00000392411, ENST00000416299, 
ENST00000428708, ENST00000435091, 
ENST00000573894, ENST00000575245, 
ENST00000575712, 
Fusion gene scores* DoF score6 X 6 X 7=2522 X 2 X 1=4
# samples 102
** MAII scorelog2(10/252*10)=-1.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: BAIAP2 [Title/Abstract] AND MAT2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAIAP2(79064961)-MAT2A(85769284), # 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
TgeneMAT2A

GO:0006556

S-adenosylmethionine biosynthetic process

10644686|25075345

TgeneMAT2A

GO:0034214

protein hexamerization

25075345

TgeneMAT2A

GO:0051291

protein heterooligomerization

25075345



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/ABM823880BAIAP2chr17

79064961

-MAT2Achr2

85769284

+


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Fusion Gene ORF analysis for BAIAP2-MAT2A

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-3CDSENST00000321280ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000321280ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000321300ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000321300ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000392411ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000392411ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000416299ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000416299ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000428708ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000428708ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000435091ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000435091ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000573894ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000573894ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000575245ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000575245ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000575712ENST00000306434BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-3CDSENST00000575712ENST00000409017BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000321280ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000321300ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000392411ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000416299ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000428708ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000435091ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000573894ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000575245ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+
intron-intronENST00000575712ENST00000490878BAIAP2chr17

79064961

-MAT2Achr2

85769284

+

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 BAIAP2-MAT2A


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 BAIAP2-MAT2A


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/:79064961/:85769284)
- 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
BAIAP2

Q9UQB8

.
FUNCTION: Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions. {ECO:0000269|PubMed:11130076, ECO:0000269|PubMed:11696321, ECO:0000269|PubMed:14752106, ECO:0000269|PubMed:17115031, ECO:0000269|PubMed:19366662}.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}.

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 BAIAP2-MAT2A


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 BAIAP2-MAT2A


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 BAIAP2-MAT2A


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 BAIAP2-MAT2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4707243Familial thoracic aortic aneurysm and aortic dissection1CLINGEN;GENOMICS_ENGLAND;ORPHANET