FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 11025

FusionGeneSummary for EFCAB13_NPEPPS

check button Fusion gene summary
Fusion gene informationFusion gene name: EFCAB13_NPEPPS
Fusion gene ID: 11025
HgeneTgene
Gene symbol

EFCAB13

NPEPPS

Gene ID

124989

9520

Gene nameEF-hand calcium binding domain 13aminopeptidase puromycin sensitive
SynonymsC17orf57AAP-S|MP100|PSA
Cytomap

17q21.32

17q21.32

Type of geneprotein-codingprotein-coding
DescriptionEF-hand calcium-binding domain-containing protein 13EF-hand domain-containing protein C17orf57puromycin-sensitive aminopeptidasecytosol alanyl aminopeptidasemetalloproteinase MP100
Modification date2018032920180523
UniProtAcc

Q8IY85

P55786

Ensembl transtripts involved in fusion geneENST00000331493, ENST00000517484, 
ENST00000520802, 
ENST00000525037, 
ENST00000530173, ENST00000322157, 
ENST00000544660, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 9 X 7=567
# samples 210
** MAII scorelog2(2/8*10)=1.32192809488736log2(10/567*10)=-2.5033487351675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EFCAB13 [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
TCGALDSARCTCGA-WK-A8XS-01AEFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
* 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
5CDS-intronENST00000331493ENST00000525037EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
5CDS-intronENST00000331493ENST00000530173EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
5CDS-intronENST00000331493ENST00000322157EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
5CDS-intronENST00000331493ENST00000544660EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
5CDS-intronENST00000517484ENST00000525037EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
5CDS-intronENST00000517484ENST00000530173EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
5CDS-intronENST00000517484ENST00000322157EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
5CDS-intronENST00000517484ENST00000544660EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
intron-intronENST00000520802ENST00000525037EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
intron-intronENST00000520802ENST00000530173EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
intron-intronENST00000520802ENST00000322157EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+
intron-intronENST00000520802ENST00000544660EFCAB13chr17

45452332

+NPEPPSchr17

45689826

+

Top

FusionProtFeatures for EFCAB13_NPEPPS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFCAB13

Q8IY85

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


Top

FusionGeneSequence for EFCAB13_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).

Top

FusionGenePPI for EFCAB13_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
EFCAB13NPEPPSEIF6, 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


Top

RelatedDrugs for EFCAB13_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

Top

RelatedDiseases for EFCAB13_NPEPPS


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