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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: 39681

FusionGeneSummary for TRPM8_SLC4A4

check button Fusion gene summary
Fusion gene informationFusion gene name: TRPM8_SLC4A4
Fusion gene ID: 39681
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

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 date2018051920180523
UniProtAcc

Q7Z2W7

Q9Y6R1

Ensembl transtripts involved in fusion geneENST00000324695, ENST00000433712, 
ENST00000355722, ENST00000409625, 
ENST00000466594, 
ENST00000264485, 
ENST00000425175, ENST00000351898, 
ENST00000340595, ENST00000514331, 
ENST00000512686, 
Fusion gene scores* DoF score4 X 4 X 1=1610 X 8 X 5=400
# samples 411
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(11/400*10)=-1.86249647625006
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]

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
TgeneSLC4A4

GO:0006814

sodium ion transport

16769890


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
TCGARVPRADTCGA-KK-A7AZ-01ATRPM8chr2

234905160

+SLC4A4chr4

72306333

+
* 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-shiftENST00000324695ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000324695ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000324695ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000324695ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
5CDS-3UTRENST00000324695ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
5CDS-3UTRENST00000324695ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000433712ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000433712ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000433712ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
Frame-shiftENST00000433712ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
5CDS-3UTRENST00000433712ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
5CDS-3UTRENST00000433712ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000355722ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000355722ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000355722ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000355722ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000355722ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000355722ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000409625ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000409625ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000409625ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000409625ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000409625ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000409625ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000466594ENST00000264485TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000466594ENST00000425175TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000466594ENST00000351898TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3CDSENST00000466594ENST00000340595TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000466594ENST00000514331TRPM8chr2

234905160

+SLC4A4chr4

72306333

+
intron-3UTRENST00000466594ENST00000512686TRPM8chr2

234905160

+SLC4A4chr4

72306333

+

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FusionProtFeatures for TRPM8_SLC4A4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TRPM8

Q7Z2W7

SLC4A4

Q9Y6R1

Receptor-activated non-selective cation channel involvedin detection of sensations such as coolness, by being activated bycold temperature below 25 degrees Celsius. Activated by icilin,eucalyptol, menthol, cold and modulation of intracellular pH.Involved in menthol sensation. Permeable for monovalent cationssodium, potassium, and cesium and divalent cation calcium.Temperature sensing is tightly linked to voltage-dependent gating.Activated upon depolarization, changes in temperature resulting ingraded shifts of its voltage-dependent activation curves. Thechemical agonist menthol functions as a gating modifier, shiftingactivation curves towards physiological membrane potentials.Temperature sensitivity arises from a tenfold difference in theactivation energies associated with voltage-dependent opening andclosing. In prostate cancer cells, shows strong inwardrectification and high calcium selectivity in contrast to itsbehavior in normal cells which is characterized by outwardrectification and poor cationic selectivity. Plays a role inprostate cancer cell migration (PubMed:25559186). Isoform 2 andisoform 3 negatively regulate menthol- and cold-induced channelactivity by stabilizing the closed state of the channel.{ECO:0000269|PubMed:15306801, ECO:0000269|PubMed:16174775,ECO:0000269|PubMed:22128173, ECO:0000269|PubMed:25559186}.

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 TRPM8_SLC4A4


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 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
TRPM8SF3A3, CHAMP1, USP10, TXLNA, ZC3H18, RTF1, AKAP5, TRPM4, KCNJ11, STX5, PCNXL3, TMBIM6SLC4A4SREBF2


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 TRPM8_SLC4A4


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 TRPM8_SLC4A4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTRPM8C0149931Migraine Disorders1CTD_human
HgeneTRPM8C0338480Common Migraine1CTD_human
TgeneSLC4A4C1970309Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation3CTD_human;ORPHANET;UNIPROT
TgeneSLC4A4C0001126Renal tubular acidosis1CTD_human
TgeneSLC4A4C0008073Developmental Disabilities1CTD_human
TgeneSLC4A4C0010038Corneal Opacity1CTD_human
TgeneSLC4A4C0017601Glaucoma1CTD_human;HPO
TgeneSLC4A4C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneSLC4A4C0086543Cataract1CTD_human;HPO