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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: 34572

FusionGeneSummary for SLC4A8_LMBRD1

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC4A8_LMBRD1
Fusion gene ID: 34572
HgeneTgene
Gene symbol

SLC4A8

LMBRD1

Gene ID

9498

55788

Gene namesolute carrier family 4 member 8LMBR1 domain containing 1
SynonymsNBC3|NDCBEC6orf209|LMBD1|MAHCF|NESI
Cytomap

12q13.13

6q13

Type of geneprotein-codingprotein-coding
Descriptionelectroneutral sodium bicarbonate exchanger 1electroneutral Na(+)-driven Cl-HCO3 exchangerk-NBC3solute carrier family 4, sodium bicarbonate cotransporter, member 8probable lysosomal cobalamin transporterHDAg-L-interacting protein NESIhepatitis delta antigen-L interacting proteinliver regeneration p-53 related proteinnuclear export signal-interacting protein
Modification date2018052320180522
UniProtAcc

Q2Y0W8

Q9NUN5

Ensembl transtripts involved in fusion geneENST00000535225, ENST00000358657, 
ENST00000453097, ENST00000394856, 
ENST00000514353, ENST00000546663, 
ENST00000370577, ENST00000370570, 
Fusion gene scores* DoF score4 X 3 X 3=365 X 3 X 4=60
# samples 57
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SLC4A8 [Title/Abstract] AND LMBRD1 [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
ChiTaRS3.1BC047623SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
ChiTaRS3.1BC036413SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
ChiTaRS3.1DB569271SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
* 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
intron-3CDSENST00000535225ENST00000370577SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000535225ENST00000370570SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000358657ENST00000370577SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000358657ENST00000370570SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000453097ENST00000370577SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000453097ENST00000370570SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000394856ENST00000370577SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000394856ENST00000370570SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000514353ENST00000370577SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000514353ENST00000370570SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000546663ENST00000370577SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-
intron-3CDSENST00000546663ENST00000370570SLC4A8chr12

51904007

+LMBRD1chr6

70386092

-

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FusionProtFeatures for SLC4A8_LMBRD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC4A8

Q2Y0W8

LMBRD1

Q9NUN5

Probable lysosomal cobalamin transporter. Required toexport cobalamin from lysosomes allowing its conversion tocofactors. {ECO:0000269|PubMed:19136951}. (Microbial infection) Isoform 3: May play a role in theassembly of hepatitis delta virus (HDV).{ECO:0000269|PubMed:15956556}.

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 SLC4A8_LMBRD1


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 SLC4A8_LMBRD1


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 SLC4A8_LMBRD1


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 SLC4A8_LMBRD1


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