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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: 27044

FusionGeneSummary for PI15_GDAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PI15_GDAP1
Fusion gene ID: 27044
HgeneTgene
Gene symbol

PI15

GDAP1

Gene ID

51050

54332

Gene namepeptidase inhibitor 15ganglioside induced differentiation associated protein 1
SynonymsCRISP8|P24TI|P25TICMT4|CMT4A|CMTRIA
Cytomap

8q21.13

8q21.11

Type of geneprotein-codingprotein-coding
Descriptionpeptidase inhibitor 1525 kDa trypsin inhibitorCRISP-8PI-15cysteine-rich secretory protein 8protease inhibitor 15sugarCrispganglioside-induced differentiation-associated protein 1Charcot-Marie-Tooth neuropathy 4A
Modification date2018052320180523
UniProtAcc

O43692

Q8TB36

Ensembl transtripts involved in fusion geneENST00000260113, ENST00000523773, 
ENST00000521096, ENST00000220822, 
ENST00000434412, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 1 X 3=9
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PI15 [Title/Abstract] AND GDAP1 [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
TgeneGDAP1

GO:0000266

mitochondrial fission

15772096


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
TCGALDBRCATCGA-EW-A1J6-01API15chr8

75737757

+GDAP1chr8

75400913

+
* 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-intronENST00000260113ENST00000521096PI15chr8

75737757

+GDAP1chr8

75400913

+
5CDS-intronENST00000260113ENST00000220822PI15chr8

75737757

+GDAP1chr8

75400913

+
5CDS-intronENST00000260113ENST00000434412PI15chr8

75737757

+GDAP1chr8

75400913

+
5CDS-intronENST00000523773ENST00000521096PI15chr8

75737757

+GDAP1chr8

75400913

+
5CDS-intronENST00000523773ENST00000220822PI15chr8

75737757

+GDAP1chr8

75400913

+
5CDS-intronENST00000523773ENST00000434412PI15chr8

75737757

+GDAP1chr8

75400913

+

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FusionProtFeatures for PI15_GDAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PI15

O43692

GDAP1

Q8TB36

Serine protease inhibitor which displays weak inhibitoryactivity against trypsin (PubMed:8882727). May play a role infacial patterning during embryonic development (By similarity).{ECO:0000250|UniProtKB:Q98ST6, ECO:0000269|PubMed:8882727}. Regulates the mitochondrial network by promotingmitochondrial fission. {ECO:0000269|PubMed:16172208}.

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 PI15_GDAP1


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 PI15_GDAP1


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
PI15GDAP1FIS1, TUBB, FAF2, HBB, PSAP, SHMT2, NXF1, SUZ12, NTRK1, EYA2, MINPP1, TRIM25


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 PI15_GDAP1


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 PI15_GDAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGDAP1C1842197Charcot-Marie-Tooth Disease, Recessive Intermediate A4CTD_human;ORPHANET;UNIPROT
TgeneGDAP1C1859198CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)4CTD_human;ORPHANET;UNIPROT
TgeneGDAP1C1843183Charcot-Marie-Tooth disease, Type 4A, axonal form2CTD_human;UNIPROT
TgeneGDAP1C1842983CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K1CTD_human;ORPHANET;UNIPROT