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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: 38300

FusionGeneSummary for TMCC2_MNAT1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMCC2_MNAT1
Fusion gene ID: 38300
HgeneTgene
Gene symbol

TMCC2

MNAT1

Gene ID

9911

4331

Gene nametransmembrane and coiled-coil domain family 2MNAT1, CDK activating kinase assembly factor
SynonymsHUCEP11CAP35|MAT1|RNF66|TFB3
Cytomap

1q32.1

14q23.1

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane and coiled-coil domains protein 2cerebral protein 11CDK-activating kinase assembly factor MAT1CDK7/cyclin-H assembly factorMNAT CDK-activating kinase assembly factor 1RING finger protein 66RING finger protein MAT1cyclin G1 interacting proteinmenage a trois 1 (CAK assembly factor)menage a trois homol
Modification date2018052320180523
UniProtAcc

O75069

P51948

Ensembl transtripts involved in fusion geneENST00000358024, ENST00000545499, 
ENST00000495538, ENST00000330675, 
ENST00000329800, 
ENST00000555545, 
ENST00000261245, ENST00000539616, 
Fusion gene scores* DoF score4 X 5 X 3=609 X 6 X 5=270
# samples 710
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/270*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMCC2 [Title/Abstract] AND MNAT1 [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
HgeneTMCC2

GO:0042982

amyloid precursor protein metabolic process

21593558

TgeneMNAT1

GO:0006357

regulation of transcription by RNA polymerase II

10801852

TgeneMNAT1

GO:0006366

transcription by RNA polymerase II

9852112

TgeneMNAT1

GO:0045944

positive regulation of transcription by RNA polymerase II

8692841


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
TCGARVLGGTCGA-TM-A7C3-01ATMCC2chr1

205211172

+MNAT1chr14

61262935

+
TCGALDLGGTCGA-S9-A6TY-01ATMCC2chr1

205211172

+MNAT1chr14

61262935

+
* 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-intronENST00000358024ENST00000555545TMCC2chr1

205211172

+MNAT1chr14

61262935

+
5CDS-intronENST00000358024ENST00000261245TMCC2chr1

205211172

+MNAT1chr14

61262935

+
5CDS-intronENST00000358024ENST00000539616TMCC2chr1

205211172

+MNAT1chr14

61262935

+
5CDS-intronENST00000545499ENST00000555545TMCC2chr1

205211172

+MNAT1chr14

61262935

+
5CDS-intronENST00000545499ENST00000261245TMCC2chr1

205211172

+MNAT1chr14

61262935

+
5CDS-intronENST00000545499ENST00000539616TMCC2chr1

205211172

+MNAT1chr14

61262935

+
3UTR-intronENST00000495538ENST00000555545TMCC2chr1

205211172

+MNAT1chr14

61262935

+
3UTR-intronENST00000495538ENST00000261245TMCC2chr1

205211172

+MNAT1chr14

61262935

+
3UTR-intronENST00000495538ENST00000539616TMCC2chr1

205211172

+MNAT1chr14

61262935

+
intron-intronENST00000330675ENST00000555545TMCC2chr1

205211172

+MNAT1chr14

61262935

+
intron-intronENST00000330675ENST00000261245TMCC2chr1

205211172

+MNAT1chr14

61262935

+
intron-intronENST00000330675ENST00000539616TMCC2chr1

205211172

+MNAT1chr14

61262935

+
intron-intronENST00000329800ENST00000555545TMCC2chr1

205211172

+MNAT1chr14

61262935

+
intron-intronENST00000329800ENST00000261245TMCC2chr1

205211172

+MNAT1chr14

61262935

+
intron-intronENST00000329800ENST00000539616TMCC2chr1

205211172

+MNAT1chr14

61262935

+

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FusionProtFeatures for TMCC2_MNAT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMCC2

O75069

MNAT1

P51948

May be involved in the regulation of the proteolyticprocessing of the amyloid precursor protein (APP) possibly alsoimplicating APOE. {ECO:0000269|PubMed:21593558}. Stabilizes the cyclin H-CDK7 complex to form afunctional CDK-activating kinase (CAK) enzymatic complex. CAKactivates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6by threonine phosphorylation. CAK complexed to the core-TFIIHbasal transcription factor activates RNA polymerase II by serinephosphorylation of the repetitive C-terminal domain (CTD) of itslarge subunit (POLR2A), allowing its escape from the promoter andelongation of the transcripts. Involved in cell cycle control andin RNA transcription by RNA polymerase II.{ECO:0000269|PubMed:10024882}.

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 TMCC2_MNAT1


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 TMCC2_MNAT1


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
TMCC2HGS, APP, AES, CDR2, HSPD1, EIF4E2, TMCC2, KAT5, DIP2A, PRPF31, WT1-AS, AMOTL2, ZNF581, FAM90A1, ZNF250, CCDC33, FAM161A, RHOXF2, DPY30, ZNF587, FBF1, ZNF417, C6orf165, IQUB, FAM74A4, TEX28, FBLIM1, MARK2, MARK3, UHRF1, ACTBL2, HNRNPLL, ACTB, CMTR1, CORO1A, FKBP10MNAT1CCNH, ERCC3, MTA1, ESR1, CDK7, HPS6, COPS6, RBM48, EEF1A1, LRIF1, POU5F1, POU2F2, POU2F1, MCM7, RB1, TP53, DMAP1, GTF2H2, GTF2H1, SP1, ERCC2, XBP1P1, ICK, BRCA1, GTF2H3, GTF2H4, USP2, POLR2A, SUPT5H, NKX3-1, TRIM2, TRIM9, TRIML1, MKRN3, TRIM31, TRIM34, RNF32, TRIM17, RNF7, RNF41, TRIM21, TRIM39, TRIM5, MDM4, TRIM26, NGFRAP1, RPA3, RPA2, RPA1, CDK2, SFR1, HIST1H2BG, PCIF1, GTF2H5, MAGEC2, MAGEE2, SIRT6


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 TMCC2_MNAT1


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 TMCC2_MNAT1


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