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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TRPM8-SLC4A4 (FusionGDB2 ID:HG79054TG8671)

Fusion Gene Summary for TRPM8-SLC4A4

check button Fusion gene summary
Fusion gene informationFusion gene name: TRPM8-SLC4A4
Fusion gene ID: hg79054tg8671
HgeneTgene
Gene symbol

TRPM8

SLC4A4

Gene ID

79054

8671

Gene nametransient receptor potential cation channel subfamily M member 8solute carrier family 4 member 4
SynonymsLTRPC6|LTrpC-6|TRPP8|trp-p8HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC
Cytomap('TRPM8')('SLC4A4')

2q37.1

4q13.3

Type of geneprotein-codingprotein-coding
Descriptiontransient receptor potential cation channel subfamily M member 8TRPM8 cationic channeltransient receptor potential p8transient receptor potential subfamily M member 8electrogenic sodium bicarbonate cotransporter 1Na(+)/HCO3(-) cotransportersodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)solute carrier family 4 (sodium bicarbonate cotransporter
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000324695, ENST00000433712, 
ENST00000355722, ENST00000409625, 
ENST00000466594, 
Fusion gene scores* DoF score5 X 5 X 2=5016 X 13 X 6=1248
# samples 517
** MAII scorelog2(5/50*10)=0log2(17/1248*10)=-2.87601128272455
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TRPM8 [Title/Abstract] AND SLC4A4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTRPM8(234905160)-SLC4A4(72306333), # samples:3
Anticipated loss of major functional domain due to fusion event.TRPM8-SLC4A4 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
TRPM8-SLC4A4 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
TRPM8-SLC4A4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
TgeneSLC4A4

GO:0006814

sodium ion transport

16769890

TgeneSLC4A4

GO:0015701

bicarbonate transport

10069984

TgeneSLC4A4

GO:0035725

sodium ion transmembrane transport

10069984

TgeneSLC4A4

GO:0042391

regulation of membrane potential

10069984|15273250

TgeneSLC4A4

GO:0051453

regulation of intracellular pH

10069984



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-KK-A7AZ-01ATRPM8chr2

234905160

-SLC4A4chr4

72306333

+
ChimerDB4PRADTCGA-KK-A7AZ-01ATRPM8chr2

234905160

+SLC4A4chr4

72306333

+
ChimerDB4PRADTCGA-KK-A7AZTRPM8chr2

234905160

+SLC4A4chr4

72306333

+


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Fusion Gene ORF analysis for TRPM8-SLC4A4

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-3UTRENST00000324695ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
5CDS-3UTRENST00000324695ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
5CDS-3UTRENST00000433712ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
5CDS-3UTRENST00000433712ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000324695ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000324695ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000324695ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000324695ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000433712ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000433712ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000433712ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000433712ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000355722ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000355722ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000355722ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000355722ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000409625ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000409625ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000409625ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000409625ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000466594ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000466594ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000466594ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000466594ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000355722ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000355722ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000409625ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000409625ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000466594ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000466594ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for TRPM8-SLC4A4


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
TRPM8chr2234905160+SLC4A4chr472306332+9.06E-070.99999905
TRPM8chr2234905160+SLC4A4chr472306332+9.06E-070.99999905
TRPM8chr2234905160+SLC4A4chr472306332+9.06E-070.99999905
TRPM8chr2234905160+SLC4A4chr472306332+9.06E-070.99999905


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for TRPM8-SLC4A4


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:234905160/:72306333)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for TRPM8-SLC4A4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for TRPM8-SLC4A4


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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Related Drugs for TRPM8-SLC4A4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for TRPM8-SLC4A4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTRPM8C0007852Cervical Migraine Syndrome1CTD_human
HgeneTRPM8C0018984Hemicrania migraine1CTD_human
HgeneTRPM8C0149931Migraine Disorders1CTD_human
HgeneTRPM8C0270858Abdominal Migraine1CTD_human
HgeneTRPM8C0338480Common Migraine1CTD_human
HgeneTRPM8C0338489Status Migrainosus1CTD_human
HgeneTRPM8C0521664Acute Confusional Migraine1CTD_human
HgeneTRPM8C0700438Sick Headaches1CTD_human
TgeneC1970309Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0001126Renal tubular acidosis1CTD_human
TgeneC0008073Developmental Disabilities1CTD_human
TgeneC0010038Corneal Opacity1CTD_human
TgeneC0017601Glaucoma1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0085996Child Development Deviations1CTD_human
TgeneC0085997Child Development Disorders, Specific1CTD_human
TgeneC0086543Cataract1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0268435Renal Tubular Acidosis, Type II1CTD_human
TgeneC0524524Pseudoaphakia1CTD_human
TgeneC1510497Lens Opacities1CTD_human
TgeneC1704380Distal Renal Tubular Acidosis1CTD_human