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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: 21768

FusionGeneSummary for MFSD12_NPEPPS

check button Fusion gene summary
Fusion gene informationFusion gene name: MFSD12_NPEPPS
Fusion gene ID: 21768
HgeneTgene
Gene symbol

MFSD12

NPEPPS

Gene ID

126321

9520

Gene namemajor facilitator superfamily domain containing 12aminopeptidase puromycin sensitive
SynonymsC19orf28|PP3501AAP-S|MP100|PSA
Cytomap

19p13.3

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionmajor facilitator superfamily domain-containing protein 12puromycin-sensitive aminopeptidasecytosol alanyl aminopeptidasemetalloproteinase MP100
Modification date2018051920180523
UniProtAcc

Q6NUT3

P55786

Ensembl transtripts involved in fusion geneENST00000389395, ENST00000398558, 
ENST00000355415, ENST00000591878, 
ENST00000525037, ENST00000530173, 
ENST00000322157, ENST00000544660, 
Fusion gene scores* DoF score3 X 3 X 3=279 X 9 X 7=567
# samples 310
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/567*10)=-2.5033487351675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MFSD12 [Title/Abstract] AND NPEPPS [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
TgeneNPEPPS

GO:0071456

cellular response to hypoxia

21056661


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
TCGALDSKCMTCGA-BF-AAOX-01AMFSD12chr19

3538539

-NPEPPSchr17

45646783

+
* 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-3UTRENST00000389395ENST00000525037MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000389395ENST00000530173MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000389395ENST00000322157MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000389395ENST00000544660MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000398558ENST00000525037MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000398558ENST00000530173MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000398558ENST00000322157MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000398558ENST00000544660MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000355415ENST00000525037MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000355415ENST00000530173MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000355415ENST00000322157MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000355415ENST00000544660MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000591878ENST00000525037MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000591878ENST00000530173MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000591878ENST00000322157MFSD12chr19

3538539

-NPEPPSchr17

45646783

+
intron-3UTRENST00000591878ENST00000544660MFSD12chr19

3538539

-NPEPPSchr17

45646783

+

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FusionProtFeatures for MFSD12_NPEPPS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MFSD12

Q6NUT3

NPEPPS

P55786

Aminopeptidase with broad substrate specificity forseveral peptides. Involved in proteolytic events essential forcell growth and viability. May act as regulator of neuropeptideactivity. Plays a role in the antigen-processing pathway for MHCclass I molecules. Involved in the N-terminal trimming ofcytotoxic T-cell epitope precursors. Digests the poly-Q peptidesfound in many cellular proteins. Digests tau from normal brainmore efficiently than tau from Alzheimer disease brain.{ECO:0000269|PubMed:10978616, ECO:0000269|PubMed:11062501,ECO:0000269|PubMed:17154549, ECO:0000269|PubMed:17318184,ECO:0000269|PubMed:19917696}.

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 MFSD12_NPEPPS


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 MFSD12_NPEPPS


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
MFSD12SLC39A4, TP53, SLC22A9, LPAR1, PMEL, SYPL2NPEPPSEIF6, OTUD4, DMWD, CLN3, GBAS, RYK, HDAC5, SIRT7, FBXO25, CUL3, CDK2, UBA6, STRAP, ECT2, CAMKMT, CFTR, FBXO6, CNDP2, NANS, CKB, CSE1L, DAK, FTO, GBP1, LDHB, METAP2, PAK2, PDIA3, RPLP2, PFAS, RPS6KA1, RPS6KA3, SCLY, SLC9A3R1, TGM2, UBFD1, ZNF622, PHKG2, STAU1, CUL7, CCDC8, FAF2, DYNLT1, STXBP1, NTRK1, MED20, FAM204A, ZNF746, LRRC8E, TRIM25, CCND2, BRCA1, CDK20


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 MFSD12_NPEPPS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNPEPPSP55786DB11638ArtenimolPuromycin-sensitive aminopeptidasesmall moleculeapproved|investigational

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RelatedDiseases for MFSD12_NPEPPS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource