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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: 30915

FusionGeneSummary for RECQL_PEMT

check button Fusion gene summary
Fusion gene informationFusion gene name: RECQL_PEMT
Fusion gene ID: 30915
HgeneTgene
Gene symbol

RECQL

PEMT

Gene ID

5965

10400

Gene nameRecQ like helicasephosphatidylethanolamine N-methyltransferase
SynonymsRECQL1|RecQ1PEAMT|PEMPT|PEMT2|PLMT|PNMT
Cytomap

12p12.1

17p11.2

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent DNA helicase Q1DNA helicase, RecQ-like type 1DNA-dependent ATPase Q1RecQ helicase-likeRecQ protein-like (DNA helicase Q1-like)recQ protein-like 1phosphatidylethanolamine N-methyltransferasephospholipid methyltransferase
Modification date2018052320180523
UniProtAcc

P46063

Q9UBM1

Ensembl transtripts involved in fusion geneENST00000444129, ENST00000421138, 
ENST00000395782, ENST00000395783, 
ENST00000435340, ENST00000255389, 
ENST00000395781, ENST00000484838, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 2 X 2=12
# samples 34
** MAII scorelog2(3/8*10)=1.90689059560852log2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RECQL [Title/Abstract] AND PEMT [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
HgeneRECQL

GO:0000733

DNA strand renaturation

19177149


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
TCGALDBRCATCGA-AR-A2LM-01ARECQLchr12

21652489

-PEMTchr17

17480341

-
* 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-5UTRENST00000444129ENST00000395782RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000444129ENST00000395783RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000444129ENST00000435340RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000444129ENST00000255389RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000444129ENST00000395781RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-intronENST00000444129ENST00000484838RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000421138ENST00000395782RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000421138ENST00000395783RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000421138ENST00000435340RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000421138ENST00000255389RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-5UTRENST00000421138ENST00000395781RECQLchr12

21652489

-PEMTchr17

17480341

-
5CDS-intronENST00000421138ENST00000484838RECQLchr12

21652489

-PEMTchr17

17480341

-

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FusionProtFeatures for RECQL_PEMT


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

P46063

PEMT

Q9UBM1

DNA helicase that may play a role in the repair of DNAthat is damaged by ultraviolet light or other mutagens. Exhibits amagnesium-dependent ATP-dependent DNA-helicase activity thatunwinds single- and double-stranded DNA in a 3'-5' direction.{ECO:0000269|PubMed:15886194, ECO:0000269|PubMed:7961977,ECO:0000269|PubMed:8056767}.

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 RECQL_PEMT


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 RECQL_PEMT


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
RECQLKPNA4, KPNA2, BANF1, DDB1, SIRT7, MAP7, MDM2, CYP1A1, FEN1, MSH2, NTRK1, HIST1H2BG, HIST1H3A, MED20, SYNCRIP, GOLT1B, CREB1, MAX, NFATC1, RBPJ, TEAD2, FOXA1, FOXC1, FOXE1, FOXI2, FOXO1, SNRNP27, USP47, PSMC5, UBCPEMTSPP1


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 RECQL_PEMT


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 RECQL_PEMT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRECQLC1458155Mammary Neoplasms1CTD_human
TgenePEMTC0036341Schizophrenia2PSYGENET