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Fusion gene ID: 26692 |
FusionGeneSummary for PERP_METAP1 |
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Fusion gene information | Fusion gene name: PERP_METAP1 | Fusion gene ID: 26692 | Hgene | Tgene | Gene symbol | PERP | METAP1 | Gene ID | 64065 | 23173 |
Gene name | PERP, TP53 apoptosis effector | methionyl aminopeptidase 1 | |
Synonyms | KCP1|KRTCAP1|PIGPC1|THW|dJ496H19.1 | MAP1A|MetAP1A | |
Cytomap | 6q23.3 | 4q23 | |
Type of gene | protein-coding | protein-coding | |
Description | p53 apoptosis effector related to PMP-221110017A08RikKCP-1keratinocyte-associated protein 1keratinocytes associated protein 1p53 apoptosis effector related to PMP22p53-induced protein PIGPC1transmembrane protein THW | methionine aminopeptidase 1MAP 1metAP 1peptidase M 1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q96FX8 | P53582 | |
Ensembl transtripts involved in fusion gene | ENST00000421351, | ENST00000296411, ENST00000506548, ENST00000544031, | |
Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 1 X 1 X 1=1 |
# samples | 6 | 1 | |
** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: PERP [Title/Abstract] AND METAP1 [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 |
Hgene | PERP | GO:0045862 | positive regulation of proteolysis | 18387192 |
Hgene | PERP | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
![]() (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 |
ChiTaRS3.1 | AW352239 | PERP | chr6 | 138412275 | + | METAP1 | chr4 | 99983570 | - |
* 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 |
intron-3UTR | ENST00000421351 | ENST00000296411 | PERP | chr6 | 138412275 | + | METAP1 | chr4 | 99983570 | - |
intron-intron | ENST00000421351 | ENST00000506548 | PERP | chr6 | 138412275 | + | METAP1 | chr4 | 99983570 | - |
intron-3UTR | ENST00000421351 | ENST00000544031 | PERP | chr6 | 138412275 | + | METAP1 | chr4 | 99983570 | - |
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FusionProtFeatures for PERP_METAP1 |
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Hgene | Tgene |
PERP | METAP1 |
Component of intercellular desmosome junctions. Plays arole in stratified epithelial integrity and cell-cell adhesion bypromoting desmosome assembly. Plays a role as an effector in theTP53-dependent apoptotic pathway (By similarity). {ECO:0000250}. | Cotranslationally removes the N-terminal methionine fromnascent proteins. The N-terminal methionine is often cleaved whenthe second residue in the primary sequence is small and uncharged(Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Required for normalprogression through the cell cycle. {ECO:0000255|HAMAP-Rule:MF_03174, ECO:0000269|PubMed:16274222,ECO:0000269|PubMed:17114291}. |
![]() * 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 PERP_METAP1 |
![]() (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 PERP_METAP1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 PERP_METAP1 |
![]() (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 PERP_METAP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |