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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: 12299

FusionGeneSummary for EXOC7_MTDH

check button Fusion gene summary
Fusion gene informationFusion gene name: EXOC7_MTDH
Fusion gene ID: 12299
HgeneTgene
Gene symbol

EXOC7

MTDH

Gene ID

23265

92140

Gene nameexocyst complex component 7metadherin
Synonyms2-5-3p|BLOM4|EX070|EXO70|EXOC1|Exo70p|YJL085W3D3|AEG-1|AEG1|LYRIC|LYRIC/3D3
Cytomap

17q25.1

8q22.1

Type of geneprotein-codingprotein-coding
Descriptionexocyst complex component 7exocyst complex component Exo70protein LYRIC3D3/LYRICastrocyte elevated gene 1astrocyte elevated gene-1 proteinlysine-rich CEACAM1 co-isolated proteinmetastasis adhesion protein
Modification date2018052220180523
UniProtAcc

Q9UPT5

Q86UE4

Ensembl transtripts involved in fusion geneENST00000607838, ENST00000591724, 
ENST00000332065, ENST00000589210, 
ENST00000335146, ENST00000467929, 
ENST00000405575, ENST00000411744, 
ENST00000406660, 		ENST00000336273, 
ENST00000519934, 
Fusion gene scores* DoF score9 X 9 X 4=3243 X 4 X 1=12
# samples 115
** MAII scorelog2(11/324*10)=-1.55849028935997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/12*10)=2.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EXOC7 [Title/Abstract] AND MTDH [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
TgeneMTDH

GO:0000122

negative regulation of transcription by RNA polymerase II

15927426

TgeneMTDH

GO:0010508

positive regulation of autophagy

21127263

TgeneMTDH

GO:0043066

negative regulation of apoptotic process

17704808

TgeneMTDH

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

16452207|18316612

TgeneMTDH

GO:0045766

positive regulation of angiogenesis

19940250

TgeneMTDH

GO:0051092

positive regulation of NF-kappaB transcription factor activity

16452207|18316612

TgeneMTDH

GO:0051897

positive regulation of protein kinase B signaling

17704808


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
ChiTaRS3.1CR736942EXOC7chr17

74079452

-MTDHchr8

98731291

+
ChiTaRS3.1W78806EXOC7chr17

74079452

-MTDHchr8

98731291

+
* 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-3CDSENST00000607838ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000607838ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000591724ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000591724ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000332065ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000332065ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000589210ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000589210ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000335146ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000335146ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000467929ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000467929ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000405575ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000405575ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000411744ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000411744ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000406660ENST00000336273EXOC7chr17

74079452

-MTDHchr8

98731291

+
intron-3CDSENST00000406660ENST00000519934EXOC7chr17

74079452

-MTDHchr8

98731291

+

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FusionProtFeatures for EXOC7_MTDH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXOC7

Q9UPT5

MTDH

Q86UE4

Downregulates SLC1A2/EAAT2 promoter activity whenexpressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independentgrowth of immortalized melanocytes and astrocytes which is a keycomponent in tumor cell expansion. Promotes lung metastasis andalso has an effect on bone and brain metastasis, possibly byenhancing the seeding of tumor cells to the target organendothelium. Induces chemoresistance.{ECO:0000269|PubMed:15927426, ECO:0000269|PubMed:16452207,ECO:0000269|PubMed:18316612, ECO:0000269|PubMed:19111877}.

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 EXOC7_MTDH


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 EXOC7_MTDH


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 EXOC7_MTDH


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 EXOC7_MTDH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMTDHC0027627Neoplasm Metastasis1CTD_human
TgeneMTDHC1458155Mammary Neoplasms1CTD_human