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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: 21684

FusionGeneSummary for METTL1_TGFBRAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: METTL1_TGFBRAP1
Fusion gene ID: 21684
HgeneTgene
Gene symbol

METTL1

TGFBRAP1

Gene ID

4234

9392

Gene namemethyltransferase like 1transforming growth factor beta receptor associated protein 1
SynonymsC12orf1|TRM8|TRMT8|YDL201wTRAP-1|TRAP1|VPS3
Cytomap

12q14.1

2q12.1-q12.2

Type of geneprotein-codingprotein-coding
DescriptiontRNA (guanine-N(7)-)-methyltransferaseD1075-like gene productmethyltransferase-like protein 1tRNA (guanine(46)-N(7))-methyltransferasetRNA(m7G46)-methyltransferasetransforming growth factor-beta receptor-associated protein 1TGF-beta receptor-associated protein 1VPS3 CORVET complex subunit
Modification date2018052320180523
UniProtAcc

Q9UBP6

Q8WUH2

Ensembl transtripts involved in fusion geneENST00000324871, ENST00000257848, 
ENST00000548681, 
ENST00000393359, 
ENST00000258449, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: METTL1 [Title/Abstract] AND TGFBRAP1 [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
HgeneMETTL1

GO:0006400

tRNA modification

12403464|15861136

TgeneTGFBRAP1

GO:0006355

regulation of transcription, DNA-templated

11278302

TgeneTGFBRAP1

GO:0007165

signal transduction

11278302


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
ChiTaRS3.1N29143METTL1chr12

58164458

-TGFBRAP1chr2

105894262

-
* 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-intronENST00000324871ENST00000393359METTL1chr12

58164458

-TGFBRAP1chr2

105894262

-
intron-intronENST00000324871ENST00000258449METTL1chr12

58164458

-TGFBRAP1chr2

105894262

-
intron-intronENST00000257848ENST00000393359METTL1chr12

58164458

-TGFBRAP1chr2

105894262

-
intron-intronENST00000257848ENST00000258449METTL1chr12

58164458

-TGFBRAP1chr2

105894262

-
intron-intronENST00000548681ENST00000393359METTL1chr12

58164458

-TGFBRAP1chr2

105894262

-
intron-intronENST00000548681ENST00000258449METTL1chr12

58164458

-TGFBRAP1chr2

105894262

-

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FusionProtFeatures for METTL1_TGFBRAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
METTL1

Q9UBP6

TGFBRAP1

Q8WUH2

Catalyzes the formation of N(7)-methylguanine atposition 46 (m7G46) in tRNA. {ECO:0000255|HAMAP-Rule:MF_03055,ECO:0000269|PubMed:12403464}. Plays a role in the TGF-beta/activin signaling pathway.It associates with inactive heteromeric TGF-beta and activinreceptor complexes, mainly through the type II receptor, and isreleased upon activation of signaling. May recruit SMAD4 to thevicinity of the receptor complex and facilitate its interactionwith receptor-regulated Smads, such as SMAD2.{ECO:0000269|PubMed:11278302, ECO:0000269|PubMed:9545258}. Plays a role in vesicle-mediated protein trafficking ofthe endocytic membrane transport pathway. Believed to act as acomponent of the putative CORVET endosomal tethering complexeswhich is proposed to be involved in the Rab5-to-Rab7 endosomeconversion probably implicating MON1A/B, and via binding SNAREsand SNARE complexes to mediate tethering and docking events duringSNARE-mediated membrane fusion. The CORVET complex is proposed tofunction as a Rab5 effector to mediate early endosome fusionprobably in specific endosome subpopulations (PubMed:25266290).Functions predominantly in APPL1-containing endosomes and indegradative but not recycling trafficking of endocytosed cargo(PubMed:25266290). {ECO:0000269|PubMed:25266290,ECO:0000305|PubMed:25266290}.

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 METTL1_TGFBRAP1


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 METTL1_TGFBRAP1


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


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RelatedDrugs for METTL1_TGFBRAP1


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 METTL1_TGFBRAP1


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