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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: 21248

FusionGeneSummary for MBTPS1_SLC38A8

check button Fusion gene summary
Fusion gene informationFusion gene name: MBTPS1_SLC38A8
Fusion gene ID: 21248
HgeneTgene
Gene symbol

MBTPS1

SLC38A8

Gene ID

8720

146167

Gene namemembrane bound transcription factor peptidase, site 1solute carrier family 38 member 8
SynonymsPCSK8|S1P|SKI-1FVH2
Cytomap

16q23.3-q24.1

16q23.3

Type of geneprotein-codingprotein-coding
Descriptionmembrane-bound transcription factor site-1 proteaseendopeptidase S1Pproprotein convertase subtilisin/kexin type 8site-1 proteasesubtilisin/kexin isozyme-1putative sodium-coupled neutral amino acid transporter 8
Modification date2018052220180523
UniProtAcc

Q14703

A6NNN8

Ensembl transtripts involved in fusion geneENST00000343411, ENST00000569770, 
ENST00000299709, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: MBTPS1 [Title/Abstract] AND SLC38A8 [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
TCGALDACCTCGA-OR-A5K0-01AMBTPS1chr16

84150340

-SLC38A8chr16

84050332

-
* 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-3CDSENST00000343411ENST00000299709MBTPS1chr16

84150340

-SLC38A8chr16

84050332

-
intron-3CDSENST00000569770ENST00000299709MBTPS1chr16

84150340

-SLC38A8chr16

84050332

-

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FusionProtFeatures for MBTPS1_SLC38A8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MBTPS1

Q14703

SLC38A8

A6NNN8

Serine protease that catalyzes the first step in theproteolytic activation of the sterol regulatory element-bindingproteins (SREBPs). Other known substrates are BDNF, GNPTAB andATF6. Cleaves after hydrophobic or small residues, provided thatArg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr(BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates theprotein cleavage of GNPTAB into subunit alpha and beta, therebyparticipating in biogenesis of lysosomes.{ECO:0000269|PubMed:21719679}. Putative sodium-dependent amino acid/proton antiporter.{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 MBTPS1_SLC38A8


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 MBTPS1_SLC38A8


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
MBTPS1HDAC1, HDAC2, ZBED8, TNFSF11, TNFRSF14, CDK2AP2, C11orf58, SPHK1, BIRC3, MOV10, NXF1, TAZ, PEX19, PLAUR, SIAESLC38A8


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 MBTPS1_SLC38A8


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 MBTPS1_SLC38A8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMBTPS1C0033578Prostatic Neoplasms1CTD_human
HgeneMBTPS1C0376634Craniofacial Abnormalities1CTD_human
HgeneMBTPS1C2239176Liver carcinoma1CTD_human
TgeneSLC38A8C3807873FOVEAL HYPOPLASIA 22ORPHANET;UNIPROT