FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:AGTPBP1-AAMDC (FusionGDB2 ID:3017)

Fusion Gene Summary for AGTPBP1-AAMDC

check button Fusion gene summary
Fusion gene informationFusion gene name: AGTPBP1-AAMDC
Fusion gene ID: 3017
HgeneTgene
Gene symbol

AGTPBP1

AAMDC

Gene ID

23287

28971

Gene nameATP/GTP binding protein 1adipogenesis associated Mth938 domain containing
SynonymsCCP1|CONDCA|NNA1C11orf67|CK067|PTD015
Cytomap

9q21.33

11q14.1

Type of geneprotein-codingprotein-coding
Descriptioncytosolic carboxypeptidase 1carboxypeptidase-tubulinnervous system nuclear protein induced by axotomy protein 1 homologsoluble carboxypeptidasetubulinyl-Tyr carboxypeptidasetyrosine carboxypeptidasemth938 domain-containing proteinUPF0366 protein C11orf67adipogenesis associated Mth938 domain-containing protein
Modification date2020031320200313
UniProtAcc

Q9UPW5

Q9H7C9

Ensembl transtripts involved in fusion geneENST00000337006, ENST00000357081, 
ENST00000376080, ENST00000376081, 
ENST00000376083, ENST00000376109, 
ENST00000432218, ENST00000491784, 
ENST00000393427, ENST00000304716, 
ENST00000525034, ENST00000525409, 
ENST00000526415, ENST00000527134, 
ENST00000531855, ENST00000532481, 
ENST00000533193, 
Fusion gene scores* DoF score15 X 12 X 4=7208 X 6 X 5=240
# samples 159
** MAII scorelog2(15/720*10)=-2.26303440583379
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: AGTPBP1 [Title/Abstract] AND AAMDC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGTPBP1(88240842)-AAMDC(77583398), # 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 AGTPBP1 (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 AAMDC (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
ChiTaRS5.0N/ACB050431AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-


Top

Fusion Gene ORF analysis for AGTPBP1-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
intron-3UTRENST00000337006ENST00000393427AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-3UTRENST00000357081ENST00000393427AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-3UTRENST00000376080ENST00000393427AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-3UTRENST00000376081ENST00000393427AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-3UTRENST00000376083ENST00000393427AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-3UTRENST00000376109ENST00000393427AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-3UTRENST00000432218ENST00000393427AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-3UTRENST00000491784ENST00000393427AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000337006ENST00000304716AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000337006ENST00000525034AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000337006ENST00000525409AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000337006ENST00000526415AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000337006ENST00000527134AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000337006ENST00000531855AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000337006ENST00000532481AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000337006ENST00000533193AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000357081ENST00000304716AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000357081ENST00000525034AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000357081ENST00000525409AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000357081ENST00000526415AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000357081ENST00000527134AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000357081ENST00000531855AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000357081ENST00000532481AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000357081ENST00000533193AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376080ENST00000304716AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376080ENST00000525034AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376080ENST00000525409AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376080ENST00000526415AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376080ENST00000527134AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376080ENST00000531855AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376080ENST00000532481AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376080ENST00000533193AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376081ENST00000304716AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376081ENST00000525034AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376081ENST00000525409AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376081ENST00000526415AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376081ENST00000527134AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376081ENST00000531855AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376081ENST00000532481AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376081ENST00000533193AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376083ENST00000304716AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376083ENST00000525034AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376083ENST00000525409AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376083ENST00000526415AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376083ENST00000527134AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376083ENST00000531855AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376083ENST00000532481AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376083ENST00000533193AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376109ENST00000304716AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376109ENST00000525034AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376109ENST00000525409AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376109ENST00000526415AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376109ENST00000527134AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376109ENST00000531855AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376109ENST00000532481AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000376109ENST00000533193AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000432218ENST00000304716AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000432218ENST00000525034AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000432218ENST00000525409AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000432218ENST00000526415AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000432218ENST00000527134AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000432218ENST00000531855AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000432218ENST00000532481AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000432218ENST00000533193AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000491784ENST00000304716AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000491784ENST00000525034AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000491784ENST00000525409AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000491784ENST00000526415AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000491784ENST00000527134AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000491784ENST00000531855AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000491784ENST00000532481AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-
intron-intronENST00000491784ENST00000533193AGTPBP1chr9

88240842

+AAMDCchr11

77583398

-

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

Top

Fusion Genomic Features for AGTPBP1-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)

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.

Top

Fusion Protein Features for AGTPBP1-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/:88240842/:77583398)
- 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
AGTPBP1

Q9UPW5

AAMDC

Q9H7C9

FUNCTION: Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins (PubMed:30420557). Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. {ECO:0000250|UniProtKB:Q641K1, ECO:0000269|PubMed:30420557}.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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for AGTPBP1-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.

Top

Fusion Gene PPI Analysis for AGTPBP1-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


Top

Related Drugs for AGTPBP1-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

Top

Related Diseases for AGTPBP1-AAMDC


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