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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: 18218

FusionGeneSummary for KAZN_SLC4A3

check button Fusion gene summary
Fusion gene informationFusion gene name: KAZN_SLC4A3
Fusion gene ID: 18218
HgeneTgene
Gene symbol

KAZN

SLC4A3

Gene ID

23254

6508

Gene namekazrin, periplakin interacting proteinsolute carrier family 4 member 3
SynonymsKAZAE3|CAE3/BAE3|SLC2C
Cytomap

1p36.21

2q35

Type of geneprotein-codingprotein-coding
Descriptionkazrinanion exchange protein 3Anion exchanger 3, neuronalanion exchanger 3 cardiac isoformcardiac/brain band 3-like proteinneuronal band 3-like proteinsolute carrier family 4 (anion exchanger), member 3
Modification date2018051920180523
UniProtAcc

Q674X7

P48751

Ensembl transtripts involved in fusion geneENST00000376030, ENST00000503743, 
ENST00000422387, ENST00000361144, 
ENST00000400798, ENST00000400797, 
ENST00000358055, ENST00000373760, 
ENST00000273063, ENST00000373762, 
ENST00000317151, ENST00000497589, 
Fusion gene scores* DoF score10 X 8 X 6=4801 X 1 X 1=1
# samples 121
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: KAZN [Title/Abstract] AND SLC4A3 [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
ChiTaRS3.1CB123220KAZNchr1

15382666

-SLC4A3chr2

220506565

+
* 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
5CDS-3UTRENST00000376030ENST00000358055KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000376030ENST00000373760KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000376030ENST00000273063KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000376030ENST00000373762KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000376030ENST00000317151KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-intronENST00000376030ENST00000497589KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000503743ENST00000358055KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000503743ENST00000373760KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000503743ENST00000273063KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000503743ENST00000373762KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000503743ENST00000317151KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-intronENST00000503743ENST00000497589KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000422387ENST00000358055KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000422387ENST00000373760KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000422387ENST00000273063KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000422387ENST00000373762KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000422387ENST00000317151KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-intronENST00000422387ENST00000497589KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000361144ENST00000358055KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000361144ENST00000373760KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000361144ENST00000273063KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000361144ENST00000373762KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000361144ENST00000317151KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-intronENST00000361144ENST00000497589KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400798ENST00000358055KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400798ENST00000373760KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400798ENST00000273063KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400798ENST00000373762KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400798ENST00000317151KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-intronENST00000400798ENST00000497589KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400797ENST00000358055KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400797ENST00000373760KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400797ENST00000273063KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400797ENST00000373762KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-3UTRENST00000400797ENST00000317151KAZNchr1

15382666

-SLC4A3chr2

220506565

+
5CDS-intronENST00000400797ENST00000497589KAZNchr1

15382666

-SLC4A3chr2

220506565

+

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FusionProtFeatures for KAZN_SLC4A3


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

Q674X7

SLC4A3

P48751

Plasma membrane anion exchange protein of widedistribution. Mediates at least a part of the Cl(-)/HCO3(-)exchange in cardiac myocytes. Both BAE3 and CAE3 forms transportCl(-).

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 KAZN_SLC4A3


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 KAZN_SLC4A3


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 KAZN_SLC4A3


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 KAZN_SLC4A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC4A3C0018799Heart Diseases1CTD_human