FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 37745

FusionGeneSummary for TERF2_NNMT

check button Fusion gene summary
Fusion gene informationFusion gene name: TERF2_NNMT
Fusion gene ID: 37745
HgeneTgene
Gene symbol

TERF2

NNMT

Gene ID

7014

4837

Gene nametelomeric repeat binding factor 2nicotinamide N-methyltransferase
SynonymsTRBF2|TRF2-
Cytomap

16q22.1

11q23.2

Type of geneprotein-codingprotein-coding
Descriptiontelomeric repeat-binding factor 2TTAGGG repeat-binding factor 2telomeric DNA-binding proteintelomeric repeat binding protein 2nicotinamide N-methyltransferase
Modification date2018052320180523
UniProtAcc

Q15554

P40261

Ensembl transtripts involved in fusion geneENST00000254942, ENST00000603068, 
ENST00000569611, ENST00000567296, 
ENST00000535401, ENST00000535185, 
ENST00000299964, ENST00000541754, 
ENST00000542647, ENST00000545255, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 3=48
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TERF2 [Title/Abstract] AND NNMT [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
HgeneTERF2

GO:0031627

telomeric loop formation

10338214

HgeneTERF2

GO:0032205

negative regulation of telomere maintenance

17055345

HgeneTERF2

GO:0032210

regulation of telomere maintenance via telomerase

23685356

HgeneTERF2

GO:0032211

negative regulation of telomere maintenance via telomerase

17055345

HgeneTERF2

GO:1903770

negative regulation of beta-galactosidase activity

11927518

HgeneTERF2

GO:1905778

negative regulation of exonuclease activity

15200954

HgeneTERF2

GO:1905839

negative regulation of telomeric D-loop disassembly

15200954


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
ChiTaRS3.1BF913499TERF2chr16

69419618

+NNMTchr11

114183064

-
* 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
intron-3CDSENST00000254942ENST00000535401TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000254942ENST00000535185TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000254942ENST00000299964TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000254942ENST00000541754TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000254942ENST00000542647TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000254942ENST00000545255TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-3CDSENST00000603068ENST00000535401TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000603068ENST00000535185TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000603068ENST00000299964TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000603068ENST00000541754TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000603068ENST00000542647TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000603068ENST00000545255TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-3CDSENST00000569611ENST00000535401TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000569611ENST00000535185TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000569611ENST00000299964TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000569611ENST00000541754TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000569611ENST00000542647TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000569611ENST00000545255TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-3CDSENST00000567296ENST00000535401TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000567296ENST00000535185TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000567296ENST00000299964TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000567296ENST00000541754TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000567296ENST00000542647TERF2chr16

69419618

+NNMTchr11

114183064

-
intron-intronENST00000567296ENST00000545255TERF2chr16

69419618

+NNMTchr11

114183064

-

Top

FusionProtFeatures for TERF2_NNMT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TERF2

Q15554

NNMT

P40261

Binds the telomeric double-stranded 5'-TTAGGG-3' repeatand plays a central role in telomere maintenance and protectionagainst end-to-end fusion of chromosomes. In addition to itstelomeric DNA-binding role, required to recruit a number offactors and enzymes required for telomere protection, includingthe shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Componentof the shelterin complex (telosome) that is involved in theregulation of telomere length and protection. Shelterin associateswith arrays of double-stranded 5'-TTAGGG-3' repeats added bytelomerase and protects chromosome ends; without its protectiveactivity, telomeres are no longer hidden from the DNA damagesurveillance and chromosome ends are inappropriately processed byDNA repair pathways. Together with DCLRE1B/Apollo, plays a keyrole in telomeric loop (T loop) formation by generating 3' single-stranded overhang at the leading end telomeres: T loops have beenproposed to protect chromosome ends from degradation and repair.Required both to recruit DCLRE1B/Apollo to telomeres and activatethe exonuclease activity of DCLRE1B/Apollo. Preferentially bindsto positive supercoiled DNA. Together with DCLRE1B/Apollo,required to control the amount of DNA topoisomerase (TOP1, TOP2Aand TOP2B) needed for telomere replication during fork passage andprevent aberrant telomere topology. Recruits TERF2IP/RAP1 totelomeres, thereby participating in to repressing homology-directed repair (HDR), which can affect telomere length.{ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:20655466,ECO:0000269|PubMed:9476899}. Catalyzes the N-methylation of nicotinamide and otherpyridines to form pyridinium ions. This activity is important forbiotransformation of many drugs and xenobiotic compounds.

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

FusionGeneSequence for TERF2_NNMT


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).

Top

FusionGenePPI for TERF2_NNMT


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

RelatedDrugs for TERF2_NNMT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNNMTP40261DB00627NiacinNicotinamide N-methyltransferasesmall moleculeapproved|investigational|nutraceutical

Top

RelatedDiseases for TERF2_NNMT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTERF2C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
TgeneNNMTC0036341Schizophrenia2PSYGENET
TgeneNNMTC0005586Bipolar Disorder1PSYGENET