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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: 21249

FusionGeneSummary for MBTPS1_TAF1C

check button Fusion gene summary
Fusion gene informationFusion gene name: MBTPS1_TAF1C
Fusion gene ID: 21249
HgeneTgene
Gene symbol

MBTPS1

TAF1C

Gene ID

8720

9013

Gene namemembrane bound transcription factor peptidase, site 1TATA-box binding protein associated factor, RNA polymerase I subunit C
SynonymsPCSK8|S1P|SKI-1MGC:39976|SL1|TAFI110|TAFI95
Cytomap

16q23.3-q24.1

16q24.1

Type of geneprotein-codingprotein-coding
Descriptionmembrane-bound transcription factor site-1 proteaseendopeptidase S1Pproprotein convertase subtilisin/kexin type 8site-1 proteasesubtilisin/kexin isozyme-1TATA box-binding protein-associated factor RNA polymerase I subunit CRNA polymerase I-specific TBP-associated factor 110 kDaSL1, 110kD subunitTATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDTATA box binding protein (TBP)-as
Modification date2018052220180522
UniProtAcc

Q14703

Q15572

Ensembl transtripts involved in fusion geneENST00000343411, ENST00000569770, 
ENST00000341690, ENST00000567759, 
ENST00000378541, ENST00000541676, 
ENST00000566732, ENST00000570117, 
ENST00000565544, 
Fusion gene scores* DoF score3 X 3 X 3=271 X 1 X 1=1
# samples 31
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: MBTPS1 [Title/Abstract] AND TAF1C [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
TCGARVESCATCGA-JY-A6FA-01AMBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
* 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
Frame-shitENST00000343411ENST00000341690MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
Frame-shitENST00000343411ENST00000567759MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
Frame-shitENST00000343411ENST00000378541MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
Frame-shitENST00000343411ENST00000541676MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
Frame-shitENST00000343411ENST00000566732MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
Frame-shitENST00000343411ENST00000570117MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
5CDS-intronENST00000343411ENST00000565544MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
5UTR-3CDSENST00000569770ENST00000341690MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
5UTR-3CDSENST00000569770ENST00000567759MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
5UTR-3CDSENST00000569770ENST00000378541MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
5UTR-3CDSENST00000569770ENST00000541676MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
5UTR-3CDSENST00000569770ENST00000566732MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
5UTR-3CDSENST00000569770ENST00000570117MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-
5UTR-intronENST00000569770ENST00000565544MBTPS1chr16

84120963

-TAF1Cchr16

84213950

-

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FusionProtFeatures for MBTPS1_TAF1C


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

Q14703

TAF1C

Q15572

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}. Component of the transcription factor SL1/TIF-IBcomplex, which is involved in the assembly of the PIC(preinitiation complex) during RNA polymerase I-dependenttranscription. The rate of PIC formation probably is primarilydependent on the rate of association of SL1/TIF-IB with the rDNApromoter. SL1/TIF-IB is involved in stabilization of nucleolartranscription factor 1/UBTF on rDNA. Formation of SL1/TIF-IBexcludes the association of TBP with TFIID subunits. Recruits RNApolymerase I to the rRNA gene promoter via interaction with RRN3.{ECO:0000269|PubMed:11250903, ECO:0000269|PubMed:15970593}.

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_TAF1C


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_TAF1C


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, SIAETAF1CCD3EAP, TBP, TAF1A, TAF1B, UBTF, RRN3, TP53, TAF1D, TAF12, UFD1L, H2AFX, TK1, SMN1, TTR, RPL14, EAF1, POLR1A, NAF1, TRIM44, RPL18A, RPS14, CCT7, RPL37A, MECP2, RRP8, P4HA2, RBM34


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_TAF1C


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_TAF1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMBTPS1C0033578Prostatic Neoplasms1CTD_human
HgeneMBTPS1C0376634Craniofacial Abnormalities1CTD_human
HgeneMBTPS1C2239176Liver carcinoma1CTD_human
TgeneTAF1CC0004352Autistic Disorder1CTD_human