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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 20535

FusionGeneSummary for MACROD2_TASP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MACROD2_TASP1
Fusion gene ID: 20535
HgeneTgene
Gene symbol

MACROD2

TASP1

Gene ID

140733

55617

Gene nameMACRO domain containing 2taspase 1
SynonymsC20orf133|C2orf133C20orf13|dJ585I14.2
Cytomap

20p12.1

20p12.1

Type of geneprotein-codingprotein-coding
DescriptionO-acetyl-ADP-ribose deacetylase MACROD2MACRO domain-containing protein 2[Protein ADP-ribosylglutamate] hydrolasethreonine aspartase 1
Modification date2018051920180523
UniProtAcc

A1Z1Q3

Q9H6P5

Ensembl transtripts involved in fusion geneENST00000217246, ENST00000310348, 
ENST00000464883, ENST00000402914, 
ENST00000378058, ENST00000407045, 
ENST00000539805, ENST00000480436, 
ENST00000337743, ENST00000544472, 
Fusion gene scores* DoF score10 X 10 X 8=8006 X 6 X 4=144
# samples 118
** MAII scorelog2(11/800*10)=-2.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MACROD2 [Title/Abstract] AND TASP1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneMACROD2

GO:0042278

purine nucleoside metabolic process

21257746

HgeneMACROD2

GO:0051725

protein de-ADP-ribosylation

23474712


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-64-1681-01AMACROD2chr20

15480492

+TASP1chr20

13610799

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-5UTRENST00000217246ENST00000539805MACROD2chr20

15480492

+TASP1chr20

13610799

-
5CDS-5UTRENST00000217246ENST00000480436MACROD2chr20

15480492

+TASP1chr20

13610799

-
5CDS-5UTRENST00000217246ENST00000337743MACROD2chr20

15480492

+TASP1chr20

13610799

-
5CDS-5UTRENST00000217246ENST00000544472MACROD2chr20

15480492

+TASP1chr20

13610799

-
5CDS-5UTRENST00000310348ENST00000539805MACROD2chr20

15480492

+TASP1chr20

13610799

-
5CDS-5UTRENST00000310348ENST00000480436MACROD2chr20

15480492

+TASP1chr20

13610799

-
5CDS-5UTRENST00000310348ENST00000337743MACROD2chr20

15480492

+TASP1chr20

13610799

-
5CDS-5UTRENST00000310348ENST00000544472MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000464883ENST00000539805MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000464883ENST00000480436MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000464883ENST00000337743MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000464883ENST00000544472MACROD2chr20

15480492

+TASP1chr20

13610799

-
5UTR-5UTRENST00000402914ENST00000539805MACROD2chr20

15480492

+TASP1chr20

13610799

-
5UTR-5UTRENST00000402914ENST00000480436MACROD2chr20

15480492

+TASP1chr20

13610799

-
5UTR-5UTRENST00000402914ENST00000337743MACROD2chr20

15480492

+TASP1chr20

13610799

-
5UTR-5UTRENST00000402914ENST00000544472MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000378058ENST00000539805MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000378058ENST00000480436MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000378058ENST00000337743MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000378058ENST00000544472MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000407045ENST00000539805MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000407045ENST00000480436MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000407045ENST00000337743MACROD2chr20

15480492

+TASP1chr20

13610799

-
intron-5UTRENST00000407045ENST00000544472MACROD2chr20

15480492

+TASP1chr20

13610799

-

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FusionProtFeatures for MACROD2_TASP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MACROD2

A1Z1Q3

TASP1

Q9H6P5

Removes ADP-ribose from glutamate residues in proteinsbearing a single ADP-ribose moiety. Inactive towards proteinsbearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, asignaling molecule generated by the deacetylation of acetylatedlysine residues in histones and other proteins.{ECO:0000269|PubMed:21257746, ECO:0000269|PubMed:23474712}. Protease involved in KMT2A/MLL1 processing and,consequently, in the correct expression of the early HOXA genecluster. {ECO:0000269|PubMed:14636557}.

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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FusionGeneSequence for MACROD2_TASP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MACROD2_TASP1


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
MACROD2TERF1, TERF2TASP1APP, KMT2A


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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RelatedDrugs for MACROD2_TASP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MACROD2_TASP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMACROD2C0004352Autistic Disorder1CTD_human
HgeneMACROD2C0023903Liver neoplasms1CTD_human
HgeneMACROD2C0236969Substance-Related Disorders1CTD_human