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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: 41539

FusionGeneSummary for VPS13C_AMMECR1

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS13C_AMMECR1
Fusion gene ID: 41539
HgeneTgene
Gene symbol

VPS13C

AMMECR1

Gene ID

54832

9949

Gene namevacuolar protein sorting 13 homolog CAlport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
SynonymsPARK23AMMERC1|MFHIEN
Cytomap

15q22.2

Xq23

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 13CAMME syndrome candidate gene 1 proteinAlport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1
Modification date2018052320180519
UniProtAcc

Q709C8

Q9Y4X0

Ensembl transtripts involved in fusion geneENST00000249837, ENST00000261517, 
ENST00000395896, ENST00000395898, 
ENST00000558919, 
ENST00000262844, 
ENST00000372059, ENST00000372057, 
ENST00000496695, 
Fusion gene scores* DoF score13 X 13 X 7=11832 X 2 X 2=8
# samples 132
** MAII scorelog2(13/1183*10)=-3.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: VPS13C [Title/Abstract] AND AMMECR1 [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

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
ChiTaRS3.1AI950984VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
* 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-intronENST00000249837ENST00000262844VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000249837ENST00000372059VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000249837ENST00000372057VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000249837ENST00000496695VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000261517ENST00000262844VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000261517ENST00000372059VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000261517ENST00000372057VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000261517ENST00000496695VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000395896ENST00000262844VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000395896ENST00000372059VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000395896ENST00000372057VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000395896ENST00000496695VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000395898ENST00000262844VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000395898ENST00000372059VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000395898ENST00000372057VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000395898ENST00000496695VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000558919ENST00000262844VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000558919ENST00000372059VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000558919ENST00000372057VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+
intron-intronENST00000558919ENST00000496695VPS13Cchr15

62149059

+AMMECR1chrX

109458811

+

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FusionProtFeatures for VPS13C_AMMECR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS13C

Q709C8

AMMECR1

Q9Y4X0

Necessary for proper mitochondrial function andmaintenance of mitochondrial transmembrane potential. Involved inthe regulation of PINK1/PRKN-mediated mitophagy in response tomitochondrial depolarization. {ECO:0000269|PubMed:26942284}.

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 VPS13C_AMMECR1


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 VPS13C_AMMECR1


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


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 VPS13C_AMMECR1


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 VPS13C_AMMECR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS13CC4225186PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET1UNIPROT