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: 26270

FusionGeneSummary for PCMTD1_WRN

check button Fusion gene summary
Fusion gene informationFusion gene name: PCMTD1_WRN
Fusion gene ID: 26270
HgeneTgene
Gene symbol

PCMTD1

WRN

Gene ID

115294

7486

Gene nameprotein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1Werner syndrome RecQ like helicase
Synonyms-RECQ3|RECQL2|RECQL3
Cytomap

8q11.23

8p12

Type of geneprotein-codingprotein-coding
Descriptionprotein-L-isoaspartate O-methyltransferase domain-containing protein 1Werner syndrome ATP-dependent helicaseDNA helicase, RecQ-like type 3Werner syndrome, RecQ helicase-likeexonuclease WRNrecQ protein-like 2
Modification date2018052320180523
UniProtAcc

Q96MG8

Q14191

Ensembl transtripts involved in fusion geneENST00000360540, ENST00000544451, 
ENST00000519559, ENST00000522514, 
ENST00000521344, 
ENST00000298139, 
Fusion gene scores* DoF score12 X 6 X 10=7206 X 5 X 5=150
# samples 196
** MAII scorelog2(19/720*10)=-1.92199748799873
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCMTD1 [Title/Abstract] AND WRN [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
TgeneWRN

GO:0000731

DNA synthesis involved in DNA repair

17563354

TgeneWRN

GO:0006259

DNA metabolic process

16622405

TgeneWRN

GO:0006284

base-excision repair

17611195

TgeneWRN

GO:0006974

cellular response to DNA damage stimulus

18203716

TgeneWRN

GO:0006979

response to oxidative stress

17611195

TgeneWRN

GO:0009267

cellular response to starvation

11420665

TgeneWRN

GO:0010225

response to UV-C

17563354

TgeneWRN

GO:0031297

replication fork processing

17115688

TgeneWRN

GO:0032508

DNA duplex unwinding

11735402|26420422

TgeneWRN

GO:0044806

G-quadruplex DNA unwinding

11735402

TgeneWRN

GO:0051345

positive regulation of hydrolase activity

17611195

TgeneWRN

GO:0061820

telomeric D-loop disassembly

15200954|19734539|26420422

TgeneWRN

GO:0071480

cellular response to gamma radiation

21639834

TgeneWRN

GO:0098530

positive regulation of strand invasion

26420422

TgeneWRN

GO:1902570

protein localization to nucleolus

11420665


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
TCGARVBRCATCGA-A8-A07P-01APCMTD1chr8

52811490

-WRNchr8

30998946

+
* 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
5UTR-3CDSENST00000360540ENST00000298139PCMTD1chr8

52811490

-WRNchr8

30998946

+
In-frameENST00000544451ENST00000298139PCMTD1chr8

52811490

-WRNchr8

30998946

+
5UTR-3CDSENST00000519559ENST00000298139PCMTD1chr8

52811490

-WRNchr8

30998946

+
5UTR-3CDSENST00000522514ENST00000298139PCMTD1chr8

52811490

-WRNchr8

30998946

+
5UTR-3CDSENST00000521344ENST00000298139PCMTD1chr8

52811490

-WRNchr8

30998946

+

Top

FusionProtFeatures for PCMTD1_WRN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCMTD1

Q96MG8

WRN

Q14191

Multifunctional enzyme that has both magnesium and ATP-dependent DNA-helicase activity and 3'->5' exonuclease activitytowards double-stranded DNA with a 5'-overhang. Has no nucleaseactivity towards single-stranded DNA or blunt-ended double-stranded DNA. Binds preferentially to DNA substrates containingalternate secondary structures, such as replication forks andHolliday junctions. May play an important role in the dissociationof joint DNA molecules that can arise as products of homologousrecombination, at stalled replication forks or during DNA repair.Alleviates stalling of DNA polymerases at the site of DNA lesions.Important for genomic integrity. Plays a role in the formation ofDNA replication focal centers; stably associates with focielements generating binding sites for RP-A (By similarity). Playsa role in double-strand break repair after gamma-irradiation.{ECO:0000250, ECO:0000269|PubMed:11863428,ECO:0000269|PubMed:17563354, ECO:0000269|PubMed:18596042,ECO:0000269|PubMed:19283071, ECO:0000269|PubMed:19652551,ECO:0000269|PubMed:21639834}.

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 PCMTD1_WRN


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.
>In-frame_PCMTD1_ENST00000544451_chr8_52811490_-_WRN_ENST00000298139_chr8_30998946_+_504aa
MPGPRRLRSPGGSGCSSRGSGPRLSTRRWRPCCTCGGSGVWLLRTPPSPSAWPARRCPRHRILSVLPINIAGTVTLALARIKQRVGGRLF
PVS_SLRDSW_KFLGITNL_RFAPLRKRVEIGFIKLIQNLRASSFKLMKNCVQRSCFCLVRKLTLRAPKSIVIIKYQLN_VQRRSLTWRS
TILINHVIRFLLGVTFLKKVSWYSHQKKLTVPHSLLFRHKSRRLRLCTMANW_KLGRNMPIKWMFPQLFWQQTRYWWIWPK_DQLRLKT_
KGLMVFLKAKLPCWPLCWKSSNISAKQIVFRQTSFQVQNLKKNRRRVW_QKIKTAHFHSLWPSHTLTSKKRRCL_RA_LRAGFCLS_QLA
CTTPKR_KLAAPLIWSEQA_LQRFRRLLLMLSETLPSTQI_VKLA_SEC_FLKTLTRTLSTWQLRSLNMVLTADFNLHVMSTKGDVFPVL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_PCMTD1_ENST00000544451_chr8_52811490_-_WRN_ENST00000298139_chr8_30998946_+_1514nt
ATGCCCGGACCCCGGCGGCTCCGGAGTCCGGGAGGCTCTGGCTGCTCCAGTCGCGGGTCCGGGCCCCGCCTCTCCACTCGGCGGTGGCGT
CCGTGTTGTTATTGTGGTGGTAGCGGCGTCTGGCTGCTGCGGACCCCGCCGAGTCCTAGCGCCTGGCCTGCGCGCCGCTGCCCGCGCCAC
AGAATTCTCAGCGTCTTGCCGATCAATATCGCAGGCACAGTTTATTTGGCACTGGCAAGGATCAAACAGAGAGTTGGTGGAAGGCTTTTT
CCCGTCAGCTGATCACTGAGGGATTCTTGGTAGAAGTTTCTCGGTATAACAAATTTATGAAGATTTGCGCCCTTACGAAAAAGGGTAGAA
ATTGGCTTCATAAAGCTAATACAGAATCTCAGAGCCTCATCCTTCAAGCTAATGAAGAATTGTGTCCAAAGAAGTTGCTTCTGCCTAGTT
CGAAAACTGTATCTTCGGGCACCAAAGAGCATTGTTATAATCAAGTACCAGTTGAATTAAGTACAGAGAAGAAGTCTAACTTGGAGAAGT
TATATTCTTATAAACCATGTGATAAGATTTCTTCTGGGAGTAACATTTCTAAAAAAAGTATCATGGTACAGTCACCAGAAAAAGCTTACA
GTTCCTCACAGCCTGTTATTTCGGCACAAGAGCAGGAGACTCAGATTGTGTTATATGGCAAATTGGTAGAAGCTAGGCAGAAACATGCCA
ATAAAATGGATGTTCCCCCAGCTATTCTGGCAACAAACAAGATACTGGTGGATATGGCCAAAATGAGACCAACTACGGTTGAAAACGTAA
AAAGGATTGATGGTGTTTCTGAAGGCAAAGCTGCCATGTTGGCCCCTCTGTTGGAAGTCATCAAACATTTCTGCCAAACAAATAGTGTTC
AGACAGACCTCTTTTCAAGTACAAAACCTCAAGAAGAACAGAAGACGAGTCTGGTAGCAAAAAATAAAATATGCACACTTTCACAGTCTA
TGGCCATCACATACTCTTTATTCCAAGAAAAGAAGATGCCTTTGAAGAGCATAGCTGAGAGCAGGATTCTGCCTCTCATGACAATTGGCA
TGCACTTATCCCAAGCGGTGAAAGCTGGCTGCCCCCTTGATTTGGAGCGAGCAGGCCTGACTCCAGAGGTTCAGAAGATTATTGCTGATG
TTATCCGAAACCCTCCCGTCAACTCAGATATGAGTAAAATTAGCCTAATCAGAATGTTAGTTCCTGAAAACATTGACACGTACCTTATCC
ACATGGCAATTGAGATCCTTAAACATGGTCCTGACAGCGGACTTCAACCTTCATGTGATGTCAACAAAAGGAGATGTTTTCCCGGTTCTG
AAGAGATCTGTTCAAGTTCTAAGAGAAGCAAGGAAGAAGTAGGCATCAATACTGAGACTTCATCTGCAGAGAGAAAGAGACGATTACCTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_PCMTD1_ENST00000544451_chr8_52811490_-_WRN_ENST00000298139_chr8_30998946_+_2245nt
TCTCCCGGCCTTGTTGACTTTGGCGTCCGCGGGGAGCTGCCCCTGTGCCCGTGGTTCTCTGCGCATGCCCGGACCCCGGCGGCTCCGGAG
TCCGGGAGGCTCTGGCTGCTCCAGTCGCGGGTCCGGGCCCCGCCTCTCCACTCGGCGGTGGCGTCCGTGTTGTTATTGTGGTGGTAGCGG
CGTCTGGCTGCTGCGGACCCCGCCGAGTCCTAGCGCCTGGCCTGCGCGCCGCTGCCCGCGCCACAGAATTCTCAGCGTCTTGCCGATCAA
TATCGCAGGCACAGTTTATTTGGCACTGGCAAGGATCAAACAGAGAGTTGGTGGAAGGCTTTTTCCCGTCAGCTGATCACTGAGGGATTC
TTGGTAGAAGTTTCTCGGTATAACAAATTTATGAAGATTTGCGCCCTTACGAAAAAGGGTAGAAATTGGCTTCATAAAGCTAATACAGAA
TCTCAGAGCCTCATCCTTCAAGCTAATGAAGAATTGTGTCCAAAGAAGTTGCTTCTGCCTAGTTCGAAAACTGTATCTTCGGGCACCAAA
GAGCATTGTTATAATCAAGTACCAGTTGAATTAAGTACAGAGAAGAAGTCTAACTTGGAGAAGTTATATTCTTATAAACCATGTGATAAG
ATTTCTTCTGGGAGTAACATTTCTAAAAAAAGTATCATGGTACAGTCACCAGAAAAAGCTTACAGTTCCTCACAGCCTGTTATTTCGGCA
CAAGAGCAGGAGACTCAGATTGTGTTATATGGCAAATTGGTAGAAGCTAGGCAGAAACATGCCAATAAAATGGATGTTCCCCCAGCTATT
CTGGCAACAAACAAGATACTGGTGGATATGGCCAAAATGAGACCAACTACGGTTGAAAACGTAAAAAGGATTGATGGTGTTTCTGAAGGC
AAAGCTGCCATGTTGGCCCCTCTGTTGGAAGTCATCAAACATTTCTGCCAAACAAATAGTGTTCAGACAGACCTCTTTTCAAGTACAAAA
CCTCAAGAAGAACAGAAGACGAGTCTGGTAGCAAAAAATAAAATATGCACACTTTCACAGTCTATGGCCATCACATACTCTTTATTCCAA
GAAAAGAAGATGCCTTTGAAGAGCATAGCTGAGAGCAGGATTCTGCCTCTCATGACAATTGGCATGCACTTATCCCAAGCGGTGAAAGCT
GGCTGCCCCCTTGATTTGGAGCGAGCAGGCCTGACTCCAGAGGTTCAGAAGATTATTGCTGATGTTATCCGAAACCCTCCCGTCAACTCA
GATATGAGTAAAATTAGCCTAATCAGAATGTTAGTTCCTGAAAACATTGACACGTACCTTATCCACATGGCAATTGAGATCCTTAAACAT
GGTCCTGACAGCGGACTTCAACCTTCATGTGATGTCAACAAAAGGAGATGTTTTCCCGGTTCTGAAGAGATCTGTTCAAGTTCTAAGAGA
AGCAAGGAAGAAGTAGGCATCAATACTGAGACTTCATCTGCAGAGAGAAAGAGACGATTACCTGTGTGGTTTGCCAAAGGAAGTGATACC
AGCAAGAAATTAATGGACAAAACGAAAAGGGGAGGTCTTTTTAGTTAAGCTGGCAATTACCAGAACAATTATGTTTCTTGCTGTATTATA
AGAGGATAGCTATATTTTATTTCTGAAGAGTAAGGAGTAGTATTTTGGCTTAAAAATCATTCTAATTACAAAGTTCACTGTTTATTGAAG
AACTGGCATCTTAAATCAGCCTTCCGCAATTCATGTAGTTTCTGGGTCTTCTGGGAGCCTACGTGAGTACATCACCTAACAGAATATTAA
ATTAGACTTCCTGTAAGATTGCTTTAAGAAACTGTTACTGTCCTGTTTTCTAATCTCTTTATTAAAACAGTGTATTTGGAAAATGTTATG
TGCTCTGATTTGATATAGATAACAGATTAGTAGTTACATGGTAATTATGTGATATAAAATATTCATATATTATCAAAATTCTGTTTTGTA
AATGTAAGAAAGCATAGTTATTTTACAAATTGTTTTTACTGTCTTTTGAAGAAGTTCTTAAATACGTTGTTAAATGGTATTAGTTGACCA
GGGCAGTGAAAATGAAACCGCATTTTGGGTGCCATTAAATAGGGAAAAAACATGTAAAAAATGTAAAATGGAGACCAATTGCACTAGGCA


Top

FusionGenePPI for PCMTD1_WRN


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
PCMTD1ELAVL1, CUL5, MRPS11, NANOG, RPS14, SEPT3, UBCWRNMDC1, TERF2, BLM, ATM, ATR, PRKDC, FEN1, PCNA, WRNIP1, POLR1C, XRCC5, XRCC6, TP53, WDR48, CHAF1A, POLB, POT1, H2AFX, NBN, DHX9, RAD51, RAD52, ATRX, RAD54B, SIRT1, WRN, PARP1, VCP, CDKN2A, CDC5L, PML, SUMO1, SUMO2, RPA1, RPA2, RPA3, CREBBP, KIAA0930, SKAP1, NTRK1, MUS81, PTTG1, TINF2, POLK, POLL, SUPT16H, ARL3, CHEK2, CHEK1, WEE1, TUBA1A


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 PCMTD1_WRN


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

Top

RelatedDiseases for PCMTD1_WRN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneWRNC0043119Werner Syndrome3CTD_human;ORPHANET;UNIPROT
TgeneWRNC0231341Premature aging syndrome1CTD_human