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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: 21773

FusionGeneSummary for MFSD2A_GOLGA8B

check button Fusion gene summary
Fusion gene informationFusion gene name: MFSD2A_GOLGA8B
Fusion gene ID: 21773
HgeneTgene
Gene symbol

MFSD2A

GOLGA8B

Gene ID

84879

440270

Gene namemajor facilitator superfamily domain containing 2Agolgin A8 family member B
SynonymsMCPH15|MFSD2|NLS1GOLGA5
Cytomap

1p34.2

15q14

Type of geneprotein-codingprotein-coding
Descriptionsodium-dependent lysophosphatidylcholine symporter 1major facilitator superfamily domain-containing protein 2Asodium-dependent LPC symporter 1golgin subfamily A member 8Bgolgi autoantigen, golgin subfamily a, 8Bgolgin-67
Modification date2018032920180523
UniProtAcc

Q8NA29

A8MQT2

Ensembl transtripts involved in fusion geneENST00000372811, ENST00000420632, 
ENST00000372809, ENST00000480630, 
ENST00000267731, ENST00000569811, 
ENST00000342314, ENST00000438958, 
Fusion gene scores* DoF score4 X 4 X 3=484 X 3 X 3=36
# samples 54
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MFSD2A [Title/Abstract] AND GOLGA8B [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
HgeneMFSD2A

GO:0051977

lysophospholipid transport

24828044


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
ChiTaRS3.1AF164622MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
* 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-intronENST00000372811ENST00000267731MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000372811ENST00000569811MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000372811ENST00000342314MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000372811ENST00000438958MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000420632ENST00000267731MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000420632ENST00000569811MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000420632ENST00000342314MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000420632ENST00000438958MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000372809ENST00000267731MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000372809ENST00000569811MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000372809ENST00000342314MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000372809ENST00000438958MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000480630ENST00000267731MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000480630ENST00000569811MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000480630ENST00000342314MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-
intron-intronENST00000480630ENST00000438958MFSD2Achr1

40427920

+GOLGA8Bchr15

34825911

-

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FusionProtFeatures for MFSD2A_GOLGA8B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MFSD2A

Q8NA29

GOLGA8B

A8MQT2

Sodium-dependent lysophosphatidylcholine (LPC)symporter, which plays an essential role for blood-brain barrierformation and function (By similarity). Specifically expressed inendothelium of the blood-brain barrier of micro-vessels andtransports LPC into the brain (By similarity). Transport of LPC isessential because it constitutes the major mechanism by whichdocosahexaenoic acid (DHA), an omega-3 fatty acid that isessential for normal brain growth and cognitive function, entersthe brain (PubMed:26005868). Transports LPC carrying long-chainfatty acids such LPC oleate and LPC palmitate with a minimum acylchain length of 14 carbons (By similarity). Does not transportdocosahexaenoic acid in unesterified fatty acid (By similarity).Specifically required for blood-brain barrier formation andfunction, probably by mediating lipid transport (By similarity).Not required for central nervous system vascular morphogenesis (Bysimilarity). Acts as a transporter for tunicamycin, an inhibitorof asparagine-linked glycosylation (PubMed:21677192). In placenta,acts as a receptor for ERVFRD-1/syncytin-2 and is required fortrophoblast fusion (PubMed:18988732, PubMed:23177091).{ECO:0000250|UniProtKB:Q9DA75, ECO:0000269|PubMed:18988732,ECO:0000269|PubMed:21677192, ECO:0000269|PubMed:23177091,ECO:0000269|PubMed:26005868}. May be involved in maintaining Golgi structure.{ECO:0000250}.

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 MFSD2A_GOLGA8B


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 MFSD2A_GOLGA8B


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 MFSD2A_GOLGA8B


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 MFSD2A_GOLGA8B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMFSD2AC0025958Microcephaly2CTD_human
HgeneMFSD2AC4225310MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE2UNIPROT
HgeneMFSD2AC0037822Speech Disorders1CTD_human
HgeneMFSD2AC3714756Intellectual Disability1CTD_human