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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: 6954

FusionGeneSummary for CHCHD6_PLXNA1

check button Fusion gene summary
Fusion gene informationFusion gene name: CHCHD6_PLXNA1
Fusion gene ID: 6954
HgeneTgene
Gene symbol

CHCHD6

PLXNA1

Gene ID

84303

5361

Gene namecoiled-coil-helix-coiled-coil-helix domain containing 6plexin A1
SynonymsCHCM1|Mic25|PPP1R23NOV|NOVP|PLEXIN-A1|PLXN1
Cytomap

3q21.3

3q21.3

Type of geneprotein-codingprotein-coding
DescriptionMICOS complex subunit MIC25coiled coil helix cristae morphology 1coiled-coil-helix cristae morphology protein 1coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrialprotein phosphatase 1, regulatory subunit 23plexin-A1plexin 1semaphorin receptor NOV
Modification date2018052220180523
UniProtAcc

Q9BRQ6

Q9UIW2

Ensembl transtripts involved in fusion geneENST00000290913, ENST00000508789, 
ENST00000515867, 
ENST00000393409, 
ENST00000251772, ENST00000505278, 
Fusion gene scores* DoF score6 X 5 X 5=1502 X 2 X 2=8
# samples 62
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: CHCHD6 [Title/Abstract] AND PLXNA1 [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
HgeneCHCHD6

GO:0006974

cellular response to DNA damage stimulus

22228767


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
TCGALDBLCATCGA-FD-A3SJ-01ACHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
* 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
Frame-shiftENST00000290913ENST00000393409CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
Frame-shiftENST00000290913ENST00000251772CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
5CDS-intronENST00000290913ENST00000505278CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
Frame-shiftENST00000508789ENST00000393409CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
Frame-shiftENST00000508789ENST00000251772CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
5CDS-intronENST00000508789ENST00000505278CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
intron-3CDSENST00000515867ENST00000393409CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
intron-3CDSENST00000515867ENST00000251772CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+
intron-intronENST00000515867ENST00000505278CHCHD6chr3

126423242

+PLXNA1chr3

126748717

+

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FusionProtFeatures for CHCHD6_PLXNA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHCHD6

Q9BRQ6

PLXNA1

Q9UIW2

Component of the MICOS complex, a large protein complexof the mitochondrial inner membrane that plays crucial roles inthe maintenance of crista junctions, inner membrane architecture,and formation of contact sites to the outer membrane.{ECO:0000269|PubMed:22228767}. Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D.Necessary for signaling by class 3 semaphorins and subsequentremodeling of the cytoskeleton. Plays a role in axon guidance,invasive growth and cell migration. Class 3 semaphorins bind to acomplex composed of a neuropilin and a plexin. The plexinmodulates the affinity of the complex for specific semaphorins,and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity).{ECO:0000250}.

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 CHCHD6_PLXNA1


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 CHCHD6_PLXNA1


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
CHCHD6UBC, APP, ERLIN1, TMED4, SLC25A12, PTPLAD1, NPM1, CLEC5A, CHCHD2, NDUFA8, RAB7A, VAPA, MTX2, GOLT1B, MMGT1, C19orf70, APOOL, SLC22A16, CD244, INVSPLXNA1AKT1, PLXNA1, KDR, RHOD, FBXO6, PDIA3, HLA-DRA, TAZ, SUSD4, LGALS9, TMEM25, CANT1, PTCH1, PTPRK, NRP1, GAN, OS9, FAM19A4, ST8SIA4, DEFA5, SCGB1D1, DEFA1, MGAT4C


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 CHCHD6_PLXNA1


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 CHCHD6_PLXNA1


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