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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: 38284

FusionGeneSummary for TMC6_CRYM

check button Fusion gene summary
Fusion gene informationFusion gene name: TMC6_CRYM
Fusion gene ID: 38284
HgeneTgene
Gene symbol

TMC6

CRYM

Gene ID

11322

1428

Gene nametransmembrane channel like 6crystallin mu
SynonymsEV1|EVER1|EVIN1|LAK-4PDFNA40|THBP
Cytomap

17q25.3

16p12.2

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane channel-like protein 6epidermodysplasia verruciformis 1epidermodysplasia verruciformis protein 1expressed in activated T/LAK lymphocytesprotein LAK-4ketimine reductase mu-crystallinNADP-regulated thyroid-hormone binding proteinmu-crystallin homologthiomorpholine-carboxylate dehydrogenase
Modification date2018052320180523
UniProtAcc

Q7Z403

Q14894

Ensembl transtripts involved in fusion geneENST00000590602, ENST00000322933, 
ENST00000592076, ENST00000392467, 
ENST00000322914, ENST00000306591, 
ENST00000591436, ENST00000589553, 
ENST00000543948, ENST00000219599, 
ENST00000415987, ENST00000396023, 
ENST00000574787, 
Fusion gene scores* DoF score5 X 5 X 5=1255 X 4 X 4=80
# samples 54
** MAII scorelog2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMC6 [Title/Abstract] AND CRYM [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
ChiTaRS3.1BG988143TMC6chr17

76121928

-CRYMchr16

21269944

+
* 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-3UTRENST00000590602ENST00000543948TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000590602ENST00000219599TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000590602ENST00000415987TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000590602ENST00000396023TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-intronENST00000590602ENST00000574787TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000322933ENST00000543948TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000322933ENST00000219599TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000322933ENST00000415987TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000322933ENST00000396023TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-intronENST00000322933ENST00000574787TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000592076ENST00000543948TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000592076ENST00000219599TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000592076ENST00000415987TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000592076ENST00000396023TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-intronENST00000592076ENST00000574787TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000392467ENST00000543948TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000392467ENST00000219599TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000392467ENST00000415987TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000392467ENST00000396023TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-intronENST00000392467ENST00000574787TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000322914ENST00000543948TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000322914ENST00000219599TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000322914ENST00000415987TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000322914ENST00000396023TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-intronENST00000322914ENST00000574787TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000306591ENST00000543948TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000306591ENST00000219599TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000306591ENST00000415987TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000306591ENST00000396023TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-intronENST00000306591ENST00000574787TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000591436ENST00000543948TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000591436ENST00000219599TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000591436ENST00000415987TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000591436ENST00000396023TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-intronENST00000591436ENST00000574787TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000589553ENST00000543948TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000589553ENST00000219599TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000589553ENST00000415987TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-3UTRENST00000589553ENST00000396023TMC6chr17

76121928

-CRYMchr16

21269944

+
intron-intronENST00000589553ENST00000574787TMC6chr17

76121928

-CRYMchr16

21269944

+

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FusionProtFeatures for TMC6_CRYM


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMC6

Q7Z403

CRYM

Q14894

Probable ion channel. {ECO:0000250}. Specifically catalyzes the reduction of imine bonds inbrain substrates that may include cystathionine ketimine (CysK)and lanthionine ketimine (LK). Binds thyroid hormone which is astrong reversible inhibitor. Presumably involved in the regulationof the free intracellular concentration of triiodothyronine andaccess to its nuclear receptors. {ECO:0000269|PubMed:21332720}.

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 TMC6_CRYM


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 TMC6_CRYM


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 TMC6_CRYM


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 TMC6_CRYM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCRYMC4084708DEAFNESS, AUTOSOMAL DOMINANT 401UNIPROT