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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: 7618

FusionGeneSummary for CMTM6_CMTM6

check button Fusion gene summary
Fusion gene informationFusion gene name: CMTM6_CMTM6
Fusion gene ID: 7618
HgeneTgene
Gene symbol

CMTM6

CMTM6

Gene ID

54918

54918

Gene nameCKLF like MARVEL transmembrane domain containing 6CKLF like MARVEL transmembrane domain containing 6
SynonymsCKLFSF6|PRO2219CKLFSF6|PRO2219
Cytomap

3p22.3

3p22.3

Type of geneprotein-codingprotein-coding
DescriptionCKLF-like MARVEL transmembrane domain-containing protein 6chemokine-like factor super family 6chemokine-like factor superfamily 6chemokine-like factor superfamily member 6CKLF-like MARVEL transmembrane domain-containing protein 6chemokine-like factor super family 6chemokine-like factor superfamily 6chemokine-like factor superfamily member 6
Modification date2018052320180523
UniProtAcc

Q9NX76

Q9NX76

Ensembl transtripts involved in fusion geneENST00000205636, ENST00000205636, 
Fusion gene scores* DoF score2 X 3 X 1=63 X 4 X 3=36
# samples 34
** MAII scorelog2(3/6*10)=2.32192809488736log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CMTM6 [Title/Abstract] AND CMTM6 [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
ChiTaRS3.1AI471964CMTM6chr3

32544339

+CMTM6chr3

32525467

-
ChiTaRS3.1BM979367CMTM6chr3

32524755

+CMTM6chr3

32524786

-
* 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-3CDSENST00000205636ENST00000205636CMTM6chr3

32544339

+CMTM6chr3

32525467

-
intron-3UTRENST00000205636ENST00000205636CMTM6chr3

32524755

+CMTM6chr3

32524786

-

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FusionProtFeatures for CMTM6_CMTM6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CMTM6

Q9NX76

CMTM6

Q9NX76

Master regulator of recycling and plasma membraneexpression of PD-L1/CD274, an immune inhibitory ligand criticalfor immune tolerance to self and antitumor immunity. Associateswith both constitutive and IFNG-induced PD-L1/CD274 at recyclingendosomes, where it protects PD-L1/CD274 from being targeted forlysosomal degradation, likely by preventing its STUB1-mediatedubiquitination. May stabilize PD-L1/CD274 expression on antigenpresenting cells and potentiates inhibitory signaling byPDCD1/CD279, its receptor on T-cells, ultimately triggering T-cellanergy. {ECO:0000269|PubMed:28813410,ECO:0000269|PubMed:28813417}. Master regulator of recycling and plasma membraneexpression of PD-L1/CD274, an immune inhibitory ligand criticalfor immune tolerance to self and antitumor immunity. Associateswith both constitutive and IFNG-induced PD-L1/CD274 at recyclingendosomes, where it protects PD-L1/CD274 from being targeted forlysosomal degradation, likely by preventing its STUB1-mediatedubiquitination. May stabilize PD-L1/CD274 expression on antigenpresenting cells and potentiates inhibitory signaling byPDCD1/CD279, its receptor on T-cells, ultimately triggering T-cellanergy. {ECO:0000269|PubMed:28813410,ECO:0000269|PubMed:28813417}.

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 CMTM6_CMTM6


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 CMTM6_CMTM6


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 CMTM6_CMTM6


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 CMTM6_CMTM6


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