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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: 39626

FusionGeneSummary for TRIT1_MFSD2A

check button Fusion gene summary
Fusion gene informationFusion gene name: TRIT1_MFSD2A
Fusion gene ID: 39626
HgeneTgene
Gene symbol

TRIT1

MFSD2A

Gene ID

54802

84879

Gene nametRNA isopentenyltransferase 1major facilitator superfamily domain containing 2A
SynonymsCOXPD35|GRO1|IPPT|IPT|IPTase|MOD5|hGRO1MCPH15|MFSD2|NLS1
Cytomap

1p34.2

1p34.2

Type of geneprotein-codingprotein-coding
DescriptiontRNA dimethylallyltransferaseIPP transferaseisopentenyl-diphosphate:tRNA isopentenyltransferasetRNA dimethylallyltransferase, mitochondrialtRNA isopentenylpyrophosphate transferasesodium-dependent lysophosphatidylcholine symporter 1major facilitator superfamily domain-containing protein 2Asodium-dependent LPC symporter 1
Modification date2018052320180329
UniProtAcc

Q9H3H1

Q8NA29

Ensembl transtripts involved in fusion geneENST00000441669, ENST00000316891, 
ENST00000372818, ENST00000491865, 
ENST00000541099, ENST00000537440, 
ENST00000537223, ENST00000545233, 
ENST00000544981, 		ENST00000372811, 
ENST00000420632, ENST00000372809, 
ENST00000480630, 
Fusion gene scores* DoF score5 X 1 X 3=156 X 6 X 3=108
# samples 37
** MAII scorelog2(3/15*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TRIT1 [Title/Abstract] AND MFSD2A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TgeneMFSD2A

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
TCGARVKIRCTCGA-EU-5906-01ATRIT1chr1

40348990

-MFSD2Achr1

40422759

+
* 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
In-frameENST00000441669ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000441669ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000441669ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000441669ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
In-frameENST00000316891ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000316891ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000316891ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000316891ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
In-frameENST00000372818ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000372818ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000372818ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000372818ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-3CDSENST00000491865ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000491865ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000491865ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000491865ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-3CDSENST00000541099ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000541099ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000541099ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000541099ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-3CDSENST00000537440ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000537440ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000537440ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000537440ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-3CDSENST00000537223ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000537223ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000537223ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000537223ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-3CDSENST00000545233ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000545233ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000545233ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5UTR-intronENST00000545233ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
In-frameENST00000544981ENST00000372811TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000544981ENST00000420632TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000544981ENST00000372809TRIT1chr1

40348990

-MFSD2Achr1

40422759

+
5CDS-intronENST00000544981ENST00000480630TRIT1chr1

40348990

-MFSD2Achr1

40422759

+

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FusionProtFeatures for TRIT1_MFSD2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TRIT1

Q9H3H1

MFSD2A

Q8NA29

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}.

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
HgeneTRIT1chr1:40348990chr1:40422759ENST00000316891-11132_3758468RegionSubstrate binding
HgeneTRIT1chr1:40348990chr1:40422759ENST00000372818-11032_3758442RegionSubstrate binding
HgeneTRIT1chr1:40348990chr1:40422759ENST00000441669-1932_3758386RegionSubstrate binding
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+01435_3831544Compositional biasNote=Poly-Lys
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+01435_3831531Compositional biasNote=Poly-Lys
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014102_12831544Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014150_16031544Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014182_25631544Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014278_31031544Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014332_34431544Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014366_37031544Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014392_39331544Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014415_43731544Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014459_48031544Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014502_54331544Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+01468_8031544Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014102_12831531Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014150_16031531Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014182_25631531Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014278_31031531Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014332_34431531Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014366_37031531Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014392_39331531Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014415_43731531Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014459_48031531Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014502_54331531Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+01468_8031531Topological domainCytoplasmic
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014129_14931544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014161_18131544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014257_27731544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014311_33131544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014345_36531544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014371_39131544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014394_41431544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014438_45831544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+01447_6731544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+014481_50131544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+01481_10131544TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014129_14931531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014161_18131531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014257_27731531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014311_33131531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014345_36531531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014371_39131531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014394_41431531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014438_45831531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+01447_6731531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+014481_50131531TransmembraneHelical
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+01481_10131531TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTRIT1chr1:40348990chr1:40422759ENST00000316891-111395_42558468Zinc fingerNote=Matrin-type
HgeneTRIT1chr1:40348990chr1:40422759ENST00000372818-110395_42558442Zinc fingerNote=Matrin-type
HgeneTRIT1chr1:40348990chr1:40422759ENST00000441669-19395_42558386Zinc fingerNote=Matrin-type
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372809+0141_4631544Topological domainExtracellular
TgeneMFSD2Achr1:40348990chr1:40422759ENST00000372811+0141_4631531Topological domainExtracellular


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FusionGeneSequence for TRIT1_MFSD2A


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 TRIT1_MFSD2A


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
TRIT1HGH1, SMYD3, SHE, ANKS1AMFSD2A


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneTRIT1chr1:40348990chr1:40422759ENST00000316891-11155_5858468substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000372818-11055_5858442substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000441669-1955_5858386substrate tRNA


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneTRIT1chr1:40348990chr1:40422759ENST00000316891-111233_25558468isopentenylpyrophosphate transferase
HgeneTRIT1chr1:40348990chr1:40422759ENST00000372818-110233_25558442isopentenylpyrophosphate transferase
HgeneTRIT1chr1:40348990chr1:40422759ENST00000441669-19233_25558386isopentenylpyrophosphate transferase
HgeneTRIT1chr1:40348990chr1:40422759ENST00000316891-111183_18758468substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000316891-111281_28358468substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000316891-111313_33158468substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000316891-111323_33058468substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000372818-110183_18758442substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000372818-110281_28358442substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000372818-110313_33158442substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000372818-110323_33058442substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000441669-19183_18758386substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000441669-19281_28358386substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000441669-19313_33158386substrate tRNA
HgeneTRIT1chr1:40348990chr1:40422759ENST00000441669-19323_33058386substrate tRNA


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TRIT1_MFSD2A


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 TRIT1_MFSD2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTRIT1C0032927Precancerous Conditions1CTD_human
TgeneMFSD2AC0025958Microcephaly2CTD_human
TgeneMFSD2AC4225310MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE2UNIPROT
TgeneMFSD2AC0037822Speech Disorders1CTD_human
TgeneMFSD2AC3714756Intellectual Disability1CTD_human