FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 34562

FusionGeneSummary for SLC4A4_EPB41L1

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC4A4_EPB41L1
Fusion gene ID: 34562
HgeneTgene
Gene symbol

SLC4A4

EPB41L1

Gene ID

8671

2036

Gene namesolute carrier family 4 member 4erythrocyte membrane protein band 4.1 like 1
SynonymsHNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC4.1N|MRD11
Cytomap

4q13.3

20q11.23

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 cotransporterband 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1
Modification date2018052320180523
UniProtAcc

Q9Y6R1

Q9H4G0

Ensembl transtripts involved in fusion geneENST00000264485, ENST00000425175, 
ENST00000351898, ENST00000340595, 
ENST00000514331, ENST00000512686, 
ENST00000202028, ENST00000373950, 
ENST00000441639, ENST00000373946, 
ENST00000338074, ENST00000373941, 
ENST00000479336, 
Fusion gene scores* DoF score7 X 7 X 4=1969 X 8 X 7=504
# samples 911
** MAII scorelog2(9/196*10)=-1.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC4A4 [Title/Abstract] AND EPB41L1 [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
TCGARVSTADTCGA-KB-A93J-01ASLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
* 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
5UTR-intronENST00000264485ENST00000202028SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000264485ENST00000373950SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000264485ENST00000441639SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000264485ENST00000373946SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-5UTRENST00000264485ENST00000338074SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-5UTRENST00000264485ENST00000373941SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000264485ENST00000479336SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000425175ENST00000202028SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000425175ENST00000373950SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000425175ENST00000441639SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000425175ENST00000373946SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-5UTRENST00000425175ENST00000338074SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-5UTRENST00000425175ENST00000373941SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000425175ENST00000479336SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000351898ENST00000202028SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000351898ENST00000373950SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000351898ENST00000441639SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000351898ENST00000373946SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-5UTRENST00000351898ENST00000338074SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-5UTRENST00000351898ENST00000373941SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
5UTR-intronENST00000351898ENST00000479336SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000340595ENST00000202028SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000340595ENST00000373950SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000340595ENST00000441639SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000340595ENST00000373946SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-5UTRENST00000340595ENST00000338074SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-5UTRENST00000340595ENST00000373941SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000340595ENST00000479336SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000514331ENST00000202028SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000514331ENST00000373950SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000514331ENST00000441639SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000514331ENST00000373946SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-5UTRENST00000514331ENST00000338074SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-5UTRENST00000514331ENST00000373941SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000514331ENST00000479336SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000512686ENST00000202028SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000512686ENST00000373950SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000512686ENST00000441639SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000512686ENST00000373946SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-5UTRENST00000512686ENST00000338074SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-5UTRENST00000512686ENST00000373941SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+
intron-intronENST00000512686ENST00000479336SLC4A4chr4

72053118

+EPB41L1chr20

34761686

+

Top

FusionProtFeatures for SLC4A4_EPB41L1


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

Q9Y6R1

EPB41L1

Q9H4G0


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_EPB41L1


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_EPB41L1


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
SLC4A4SREBF2EPB41L1NUMA1, STARD13, ITPR1, SDC2, DRD2, DRD3, GRIA1, AGAP2, ELAVL1, TERF1, POT1, APP, NOP16, HNRNPUL1, SRPK2, ACACA, CAST, COPS3, COPS4, COPS5, COPS2, COPS7A, GCN1L1, INPPL1, NUP50, POLA2, POP7, RPP30, KIF5B, PSMA4, PSMA5, PSMB3, PSMB4, PSMB5, PSMB7, ARMC1, HAX1, NUFIP1, DGUOK, DNAAF2, DDAH2, EIF3I, EPB41L3, HSPB1, TMEM17, BRD2, CDH1, PTPRA, EPB41L2, MISP, PRICKLE3, ISG20


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_EPB41L1


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_EPB41L1


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
TgeneEPB41L1C3280285MENTAL RETARDATION, AUTOSOMAL DOMINANT 111UNIPROT