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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: 34565

FusionGeneSummary for SLC4A4_SLC4A4

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC4A4_SLC4A4
Fusion gene ID: 34565
HgeneTgene
Gene symbol

SLC4A4

SLC4A4

Gene ID

8671

8671

Gene namesolute carrier family 4 member 4solute carrier family 4 member 4
SynonymsHNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBCHNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC
Cytomap

4q13.3

4q13.3

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 cotransporterelectrogenic 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 date2018052320180523
UniProtAcc

Q9Y6R1

Q9Y6R1

Ensembl transtripts involved in fusion geneENST00000264485, ENST00000425175, 
ENST00000351898, ENST00000340595, 
ENST00000514331, ENST00000512686, 
ENST00000264485, ENST00000425175, 
ENST00000351898, ENST00000340595, 
ENST00000514331, ENST00000512686, 
Fusion gene scores* DoF score7 X 7 X 4=19610 X 8 X 5=400
# samples 911
** MAII scorelog2(9/196*10)=-1.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: SLC4A4 [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
HgeneSLC4A4

GO:0006814

sodium ion transport

16769890

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
ChiTaRS3.1BF924222SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
ChiTaRS3.1W39298SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
* 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-shiftENST00000264485ENST00000264485SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000264485ENST00000425175SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000264485ENST00000351898SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000264485ENST00000340595SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000264485ENST00000514331SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000264485ENST00000512686SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000425175ENST00000264485SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000425175ENST00000425175SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000425175ENST00000351898SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000425175ENST00000340595SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000425175ENST00000514331SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000425175ENST00000512686SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000351898ENST00000264485SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000351898ENST00000425175SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000351898ENST00000351898SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000351898ENST00000340595SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000351898ENST00000514331SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000351898ENST00000512686SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000340595ENST00000264485SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000340595ENST00000425175SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000340595ENST00000351898SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000340595ENST00000340595SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000340595ENST00000514331SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000340595ENST00000512686SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
3UTR-3CDSENST00000514331ENST00000264485SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
3UTR-3CDSENST00000514331ENST00000425175SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
3UTR-3CDSENST00000514331ENST00000351898SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
3UTR-3CDSENST00000514331ENST00000340595SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
3UTR-3UTRENST00000514331ENST00000514331SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
3UTR-3UTRENST00000514331ENST00000512686SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000512686ENST00000264485SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000512686ENST00000425175SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000512686ENST00000351898SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
Frame-shiftENST00000512686ENST00000340595SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000512686ENST00000514331SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
5CDS-3UTRENST00000512686ENST00000512686SLC4A4chr4

72332218

+SLC4A4chr4

72306404

+
In-frameENST00000264485ENST00000264485SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
In-frameENST00000264485ENST00000425175SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000264485ENST00000351898SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000264485ENST00000340595SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000264485ENST00000514331SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000264485ENST00000512686SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
In-frameENST00000425175ENST00000264485SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
In-frameENST00000425175ENST00000425175SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000425175ENST00000351898SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000425175ENST00000340595SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000425175ENST00000514331SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000425175ENST00000512686SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-3CDSENST00000351898ENST00000264485SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-3CDSENST00000351898ENST00000425175SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000351898ENST00000351898SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000351898ENST00000340595SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000351898ENST00000514331SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000351898ENST00000512686SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
In-frameENST00000340595ENST00000264485SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
In-frameENST00000340595ENST00000425175SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000340595ENST00000351898SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000340595ENST00000340595SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000340595ENST00000514331SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
5CDS-intronENST00000340595ENST00000512686SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-3CDSENST00000514331ENST00000264485SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-3CDSENST00000514331ENST00000425175SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000514331ENST00000351898SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000514331ENST00000340595SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000514331ENST00000514331SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000514331ENST00000512686SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-3CDSENST00000512686ENST00000264485SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-3CDSENST00000512686ENST00000425175SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000512686ENST00000351898SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000512686ENST00000340595SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000512686ENST00000514331SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+
intron-intronENST00000512686ENST00000512686SLC4A4chr4

72412121

-SLC4A4chr4

72413363

+

Top

FusionProtFeatures for SLC4A4_SLC4A4


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

Q9Y6R1

SLC4A4

Q9Y6R1


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


Top

FusionGeneSequence for SLC4A4_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).

Top

FusionGenePPI for SLC4A4_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


Top

RelatedDrugs for SLC4A4_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

Top

RelatedDiseases for SLC4A4_SLC4A4


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
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