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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: 10745

FusionGeneSummary for DYM_TMC7

check button Fusion gene summary
Fusion gene informationFusion gene name: DYM_TMC7
Fusion gene ID: 10745
HgeneTgene
Gene symbol

DYM

TMC7

Gene ID

54808

79905

Gene namedymeclintransmembrane channel like 7
SynonymsDMC|SMC-
Cytomap

18q21.1

16p12.3

Type of geneprotein-codingprotein-coding
Descriptiondymeclindyggve-Melchior-Clausen syndrome proteintransmembrane channel-like protein 7
Modification date2018052320180523
UniProtAcc

Q7RTS9

Q7Z402

Ensembl transtripts involved in fusion geneENST00000442713, ENST00000269445, 
ENST00000584977, ENST00000578396, 
ENST00000569532, ENST00000304381, 
ENST00000421369, ENST00000561963, 
Fusion gene scores* DoF score11 X 7 X 8=6161 X 1 X 1=1
# samples 121
** MAII scorelog2(12/616*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: DYM [Title/Abstract] AND TMC7 [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

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
TCGARVSKCMTCGA-ER-A196-01ADYMchr18

46783380

-TMC7chr16

19051611

+
* 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
Frame-shiftENST00000442713ENST00000569532DYMchr18

46783380

-TMC7chr16

19051611

+
Frame-shiftENST00000442713ENST00000304381DYMchr18

46783380

-TMC7chr16

19051611

+
Frame-shiftENST00000442713ENST00000421369DYMchr18

46783380

-TMC7chr16

19051611

+
5CDS-intronENST00000442713ENST00000561963DYMchr18

46783380

-TMC7chr16

19051611

+
Frame-shiftENST00000269445ENST00000569532DYMchr18

46783380

-TMC7chr16

19051611

+
Frame-shiftENST00000269445ENST00000304381DYMchr18

46783380

-TMC7chr16

19051611

+
Frame-shiftENST00000269445ENST00000421369DYMchr18

46783380

-TMC7chr16

19051611

+
5CDS-intronENST00000269445ENST00000561963DYMchr18

46783380

-TMC7chr16

19051611

+
intron-3CDSENST00000584977ENST00000569532DYMchr18

46783380

-TMC7chr16

19051611

+
intron-3CDSENST00000584977ENST00000304381DYMchr18

46783380

-TMC7chr16

19051611

+
intron-3CDSENST00000584977ENST00000421369DYMchr18

46783380

-TMC7chr16

19051611

+
intron-intronENST00000584977ENST00000561963DYMchr18

46783380

-TMC7chr16

19051611

+
intron-3CDSENST00000578396ENST00000569532DYMchr18

46783380

-TMC7chr16

19051611

+
intron-3CDSENST00000578396ENST00000304381DYMchr18

46783380

-TMC7chr16

19051611

+
intron-3CDSENST00000578396ENST00000421369DYMchr18

46783380

-TMC7chr16

19051611

+
intron-intronENST00000578396ENST00000561963DYMchr18

46783380

-TMC7chr16

19051611

+

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FusionProtFeatures for DYM_TMC7


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

Q7RTS9

TMC7

Q7Z402

Probable ion channel. {ECO:0000250}.

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 DYM_TMC7


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 DYM_TMC7


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
DYMHS2ST1, VSIG2, PNKD, P2RY12, PTGER3, DUSP28, SIGLECL1, EPHA1, VIPR1, CHRM3, CD70, FPR2, VIPR2, FZD10, TNFSF13B, SLCO1B1, OPRM1, PTPRNTMC7HLCS, ZFAND2B, CIB1, PSMD11


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 DYM_TMC7


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 DYM_TMC7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDYMC3888088SMITH-MCCORT DYSPLASIA 13UNIPROT
HgeneDYMC0265286Dyggve-Melchior-Clausen syndrome2CTD_human;ORPHANET;UNIPROT
HgeneDYMC0036341Schizophrenia1PSYGENET