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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: 42240

FusionGeneSummary for XRN2_TMEM40

check button Fusion gene summary
Fusion gene informationFusion gene name: XRN2_TMEM40
Fusion gene ID: 42240
HgeneTgene
Gene symbol

XRN2

TMEM40

Gene ID

22803

55287

Gene name5'-3' exoribonuclease 2transmembrane protein 40
Synonyms--
Cytomap

20p11.22

3p25.2

Type of geneprotein-codingprotein-coding
Description5'-3' exoribonuclease 2DHP proteinDhm1-like proteintransmembrane protein 40
Modification date2018051920180519
UniProtAcc

Q9H0D6

Q8WWA1

Ensembl transtripts involved in fusion geneENST00000377191, ENST00000430571, 
ENST00000539513, 
ENST00000314124, 
ENST00000435575, ENST00000435218, 
ENST00000476331, ENST00000431022, 
ENST00000264728, 
Fusion gene scores* DoF score4 X 4 X 3=485 X 3 X 8=120
# samples 49
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/120*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: XRN2 [Title/Abstract] AND TMEM40 [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
HgeneXRN2

GO:0000738

DNA catabolic process, exonucleolytic

15565158


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
TCGARVLUSCTCGA-52-7810-01AXRN2chr20

21335510

+TMEM40chr3

12791339

-
* 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-5UTRENST00000377191ENST00000314124XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000377191ENST00000435575XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000377191ENST00000435218XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-intronENST00000377191ENST00000476331XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-intronENST00000377191ENST00000431022XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000377191ENST00000264728XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000430571ENST00000314124XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000430571ENST00000435575XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000430571ENST00000435218XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-intronENST00000430571ENST00000476331XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-intronENST00000430571ENST00000431022XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000430571ENST00000264728XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000539513ENST00000314124XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000539513ENST00000435575XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000539513ENST00000435218XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-intronENST00000539513ENST00000476331XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-intronENST00000539513ENST00000431022XRN2chr20

21335510

+TMEM40chr3

12791339

-
5CDS-5UTRENST00000539513ENST00000264728XRN2chr20

21335510

+TMEM40chr3

12791339

-

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FusionProtFeatures for XRN2_TMEM40


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
XRN2

Q9H0D6

TMEM40

Q8WWA1

Possesses 5'->3' exoribonuclease activity (Bysimilarity). May promote the termination of transcription by RNApolymerase II. During transcription termination, cleavage at thepolyadenylation site liberates a 5' fragment which is subsequentlyprocessed to form the mature mRNA and a 3' fragment which remainsattached to the elongating polymerase. The processive degradationof this 3' fragment by this protein may promote termination oftranscription. Binds to RNA polymerase II (RNAp II) transcriptiontermination R-loops formed by G-rich pause sites(PubMed:21700224). {ECO:0000250, ECO:0000269|PubMed:15565158,ECO:0000269|PubMed:16648491, ECO:0000269|PubMed:21700224}.

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 XRN2_TMEM40


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 XRN2_TMEM40


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
XRN2TOLLIP, LSM3, DXO, UPF2, DISC1, DHX58, EIF2AK2, SIRT7, HNRNPA1, CUL3, CUL4B, CUL1, COPS5, CAND1, DENND5A, TXLNA, UBE2A, USP19, UNC13D, XPO1, XPO7, CSNK2A1, AICDA, PAN2, EIF3L, EEF1A1, ATRN, CTSC, EIF6, EIF5A, TIPARP, COMT, MOCS3, ALDH1B1, PRAME, MRPS10, MRPL4, EXOSC8, EXOSC10, PSMA3, TARDBP, RPA3, RPA2, RPA1, WWOX, ERG, LIN28A, CDKN2AIPNL, KPNA6, DHX8, POLR2A, KPNA1, NKRF, CDKN2AIP, POLR2B, LGALS3BP, MAGED2, ENO1, SHMT2, MOV10, NXF1, CUL7, OBSL1, BMI1, CFAP58, MCFD2, API5, NTRK1, HNRNPU, CRY2, MCM2, SNW1, CDC5L, SMN1, EGFR, WWP2, DCAF7, FOXA1, BRCA1, YAP1TMEM40CDK15


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 XRN2_TMEM40


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 XRN2_TMEM40


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