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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:GAB2-AAMDC (FusionGDB2 ID:32024)

Fusion Gene Summary for GAB2-AAMDC

check button Fusion gene summary
Fusion gene informationFusion gene name: GAB2-AAMDC
Fusion gene ID: 32024
HgeneTgene
Gene symbol

GAB2

AAMDC

Gene ID

9846

28971

Gene nameGRB2 associated binding protein 2adipogenesis associated Mth938 domain containing
Synonyms-C11orf67|CK067|PTD015
Cytomap

11q14.1

11q14.1

Type of geneprotein-codingprotein-coding
DescriptionGRB2-associated-binding protein 2Grb2-associated binder 2growth factor receptor bound protein 2-associated protein 2pp100mth938 domain-containing proteinUPF0366 protein C11orf67adipogenesis associated Mth938 domain-containing protein
Modification date2020032720200313
UniProtAcc

Q9UQC2

Q9H7C9

Ensembl transtripts involved in fusion geneENST00000361507, ENST00000526030, 
ENST00000340149, 		ENST00000304716, 
ENST00000393427, ENST00000525034, 
ENST00000525409, ENST00000526415, 
ENST00000527134, ENST00000531855, 
ENST00000533193, ENST00000532481, 
Fusion gene scores* DoF score25 X 12 X 7=21008 X 6 X 5=240
# samples 279
** MAII scorelog2(27/2100*10)=-2.95935801550265
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GAB2 [Title/Abstract] AND AAMDC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGAB2(78128692)-AAMDC(77629107), # 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
HgeneGAB2

GO:0008284

positive regulation of cell proliferation

19172738


check buttonFusion gene breakpoints across GAB2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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

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-AO-A0JG-01AGAB2chr11

78128692

-AAMDCchr11

77629107

+


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Fusion Gene ORF analysis for GAB2-AAMDC

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-intronENST00000361507ENST00000304716GAB2chr11

78128692

-AAMDCchr11

77629107

+
5CDS-intronENST00000361507ENST00000393427GAB2chr11

78128692

-AAMDCchr11

77629107

+
5CDS-intronENST00000361507ENST00000525034GAB2chr11

78128692

-AAMDCchr11

77629107

+
5CDS-intronENST00000361507ENST00000525409GAB2chr11

78128692

-AAMDCchr11

77629107

+
5CDS-intronENST00000361507ENST00000526415GAB2chr11

78128692

-AAMDCchr11

77629107

+
5CDS-intronENST00000361507ENST00000527134GAB2chr11

78128692

-AAMDCchr11

77629107

+
5CDS-intronENST00000361507ENST00000531855GAB2chr11

78128692

-AAMDCchr11

77629107

+
5CDS-intronENST00000361507ENST00000533193GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-3CDSENST00000526030ENST00000532481GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-intronENST00000526030ENST00000304716GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-intronENST00000526030ENST00000393427GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-intronENST00000526030ENST00000525034GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-intronENST00000526030ENST00000525409GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-intronENST00000526030ENST00000526415GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-intronENST00000526030ENST00000527134GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-intronENST00000526030ENST00000531855GAB2chr11

78128692

-AAMDCchr11

77629107

+
5UTR-intronENST00000526030ENST00000533193GAB2chr11

78128692

-AAMDCchr11

77629107

+
In-frameENST00000361507ENST00000532481GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-3CDSENST00000340149ENST00000532481GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-intronENST00000340149ENST00000304716GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-intronENST00000340149ENST00000393427GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-intronENST00000340149ENST00000525034GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-intronENST00000340149ENST00000525409GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-intronENST00000340149ENST00000526415GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-intronENST00000340149ENST00000527134GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-intronENST00000340149ENST00000531855GAB2chr11

78128692

-AAMDCchr11

77629107

+
intron-intronENST00000340149ENST00000533193GAB2chr11

78128692

-AAMDCchr11

77629107

+

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)
ENST00000361507GAB2chr1178128692-ENST00000532481AAMDCchr1177629107+533161181260

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
ENST00000361507ENST00000532481GAB2chr1178128692-AAMDCchr1177629107+0.566203830.43379617

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Fusion Genomic Features for GAB2-AAMDC


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)
GAB2chr1178128691-AAMDCchr1177629106+1.19E-081
GAB2chr1178128691-AAMDCchr1177629106+1.19E-081

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.
genomic feature

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 GAB2-AAMDC


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/chr11:78128692/chr11:77629107)
- 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
GAB2

Q9UQC2

AAMDC

Q9H7C9

FUNCTION: Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis. {ECO:0000269|PubMed:15750601, ECO:0000269|PubMed:19172738}.FUNCTION: May play a role in preadipocyte differentiation and adipogenesis. {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
TgeneAAMDCchr11:78128692chr11:77629107ENST00000393427046_1220123.0RegionMTH138-like domain
TgeneAAMDCchr11:78128692chr11:77629107ENST00000526415056_1220123.0RegionMTH138-like domain

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGAB2chr11:78128692chr11:77629107ENST00000340149-1106_1170639.0DomainPH
HgeneGAB2chr11:78128692chr11:77629107ENST00000361507-1106_11725677.0DomainPH
HgeneGAB2chr11:78128692chr11:77629107ENST00000340149-110351_3580639.0MotifNote=SH3-binding
HgeneGAB2chr11:78128692chr11:77629107ENST00000340149-110510_5190639.0MotifNote=SH3-binding
HgeneGAB2chr11:78128692chr11:77629107ENST00000361507-110351_35825677.0MotifNote=SH3-binding
HgeneGAB2chr11:78128692chr11:77629107ENST00000361507-110510_51925677.0MotifNote=SH3-binding
TgeneAAMDCchr11:78128692chr11:77629107ENST00000532481246_1227689.0RegionMTH138-like domain


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Fusion Gene Sequence for GAB2-AAMDC


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.
>32024_32024_1_GAB2-AAMDC_GAB2_chr11_78128692_ENST00000361507_AAMDC_chr11_77629107_ENST00000532481_length(transcript)=533nt_BP=161nt
GAGCTGCGCACCGCCGGCCGCTGCCCCAGCTGCCCGAGCCCGCGCCCTCGTCCGCGCGACCCGGCGGGGGGCTCCAGGCCGGCAGCATGA
GCGGCGGCGGCGACGTGGTGTGCACCGGCTGGCTGAGGAAATCGCCTCCCGAGAAGAAGTTGAGGCGCTATGATGGAATACAGGGGGCAC
AGTTAGATCTGAATTGTTAAGCAGAGGCTGCTTGATGCAGAAGATGAAGACAGAAGAAAGAATGAGCCTAGGCCGGGCACAGTGGCTCAC
GCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGCCACCATGGTGAAACCT
CGACTCTACAAAAAAAAAAAAGCCAAAATTAGCCAGGTGTGGTGGCATATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTGGGAGAA

>32024_32024_1_GAB2-AAMDC_GAB2_chr11_78128692_ENST00000361507_AAMDC_chr11_77629107_ENST00000532481_length(amino acids)=60AA_BP=

--------------------------------------------------------------

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Fusion Gene PPI Analysis for GAB2-AAMDC


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 GAB2-AAMDC


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 GAB2-AAMDC


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