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Fusion gene ID: 21249 |
FusionGeneSummary for MBTPS1_TAF1C |
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Fusion gene information | Fusion gene name: MBTPS1_TAF1C | Fusion gene ID: 21249 | Hgene | Tgene | Gene symbol | MBTPS1 | TAF1C | Gene ID | 8720 | 9013 |
Gene name | membrane bound transcription factor peptidase, site 1 | TATA-box binding protein associated factor, RNA polymerase I subunit C | |
Synonyms | PCSK8|S1P|SKI-1 | MGC:39976|SL1|TAFI110|TAFI95 | |
Cytomap | 16q23.3-q24.1 | 16q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | membrane-bound transcription factor site-1 proteaseendopeptidase S1Pproprotein convertase subtilisin/kexin type 8site-1 proteasesubtilisin/kexin isozyme-1 | TATA 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 date | 20180522 | 20180522 | |
UniProtAcc | Q14703 | Q15572 | |
Ensembl transtripts involved in fusion gene | ENST00000343411, ENST00000569770, | ENST00000341690, ENST00000567759, ENST00000378541, ENST00000541676, ENST00000566732, ENST00000570117, ENST00000565544, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 1 X 1 X 1=1 |
# samples | 3 | 1 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | ESCA | TCGA-JY-A6FA-01A | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000343411 | ENST00000341690 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
Frame-shift | ENST00000343411 | ENST00000567759 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
Frame-shift | ENST00000343411 | ENST00000378541 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
Frame-shift | ENST00000343411 | ENST00000541676 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
Frame-shift | ENST00000343411 | ENST00000566732 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
Frame-shift | ENST00000343411 | ENST00000570117 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
5CDS-intron | ENST00000343411 | ENST00000565544 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
5UTR-3CDS | ENST00000569770 | ENST00000341690 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
5UTR-3CDS | ENST00000569770 | ENST00000567759 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
5UTR-3CDS | ENST00000569770 | ENST00000378541 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
5UTR-3CDS | ENST00000569770 | ENST00000541676 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
5UTR-3CDS | ENST00000569770 | ENST00000566732 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
5UTR-3CDS | ENST00000569770 | ENST00000570117 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
5UTR-intron | ENST00000569770 | ENST00000565544 | MBTPS1 | chr16 | 84120963 | - | TAF1C | chr16 | 84213950 | - |
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FusionProtFeatures for MBTPS1_TAF1C |
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Hgene | Tgene |
MBTPS1 | TAF1C |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MBTPS1_TAF1C |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MBTPS1 | HDAC1, HDAC2, ZBED8, TNFSF11, TNFRSF14, CDK2AP2, C11orf58, SPHK1, BIRC3, MOV10, NXF1, TAZ, PEX19, PLAUR, SIAE | TAF1C | CD3EAP, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MBTPS1_TAF1C |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MBTPS1_TAF1C |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MBTPS1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | MBTPS1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | MBTPS1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | TAF1C | C0004352 | Autistic Disorder | 1 | CTD_human |