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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: 34566

FusionGeneSummary for SLC4A4_TMPRSS11E

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC4A4_TMPRSS11E
Fusion gene ID: 34566
HgeneTgene
Gene symbol

SLC4A4

TMPRSS11E

Gene ID

8671

28983

Gene namesolute carrier family 4 member 4transmembrane serine protease 11E
SynonymsHNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBCDESC1|TMPRSS11E2
Cytomap

4q13.3

4q13.2

Type of geneprotein-codingprotein-coding
Descriptionelectrogenic sodium bicarbonate cotransporter 1Na(+)/HCO3(-) cotransportersodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)solute carrier family 4 (sodium bicarbonate cotransportertransmembrane protease serine 11Eserine protease DESC1transmembrane protease serine 11E2transmembrane protease, serine 11E
Modification date2018052320180523
UniProtAcc

Q9Y6R1

Q9UL52

Ensembl transtripts involved in fusion geneENST00000264485, ENST00000425175, 
ENST00000351898, ENST00000340595, 
ENST00000514331, ENST00000512686, 
ENST00000305363, 
Fusion gene scores* DoF score7 X 7 X 4=1961 X 1 X 1=1
# samples 91
** MAII scorelog2(9/196*10)=-1.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SLC4A4 [Title/Abstract] AND TMPRSS11E [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
HgeneSLC4A4

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
TCGALDBLCATCGA-DK-A1AC-01ASLC4A4chr4

72102366

+TMPRSS11Echr4

69327539

+
* 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-shiftENST00000264485ENST00000305363SLC4A4chr4

72102366

+TMPRSS11Echr4

69327539

+
Frame-shiftENST00000425175ENST00000305363SLC4A4chr4

72102366

+TMPRSS11Echr4

69327539

+
Frame-shiftENST00000351898ENST00000305363SLC4A4chr4

72102366

+TMPRSS11Echr4

69327539

+
intron-3CDSENST00000340595ENST00000305363SLC4A4chr4

72102366

+TMPRSS11Echr4

69327539

+
intron-3CDSENST00000514331ENST00000305363SLC4A4chr4

72102366

+TMPRSS11Echr4

69327539

+
intron-3CDSENST00000512686ENST00000305363SLC4A4chr4

72102366

+TMPRSS11Echr4

69327539

+

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FusionProtFeatures for SLC4A4_TMPRSS11E


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC4A4

Q9Y6R1

TMPRSS11E

Q9UL52

Serine protease which possesses both gelatinolytic andcaseinolytic activities. Shows a preference for Arg in the P1position. {ECO:0000250|UniProtKB:Q5S248}.

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 SLC4A4_TMPRSS11E


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 SLC4A4_TMPRSS11E


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
SLC4A4SREBF2TMPRSS11E


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 SLC4A4_TMPRSS11E


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 SLC4A4_TMPRSS11E


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC4A4C1970309Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation3CTD_human;ORPHANET;UNIPROT
HgeneSLC4A4C0001126Renal tubular acidosis1CTD_human
HgeneSLC4A4C0008073Developmental Disabilities1CTD_human
HgeneSLC4A4C0010038Corneal Opacity1CTD_human
HgeneSLC4A4C0017601Glaucoma1CTD_human;HPO
HgeneSLC4A4C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSLC4A4C0086543Cataract1CTD_human;HPO