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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: 5243

FusionGeneSummary for CACNG8_BIN1

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNG8_BIN1
Fusion gene ID: 5243
HgeneTgene
Gene symbol

CACNG8

BIN1

Gene ID

59283

274

Gene namecalcium voltage-gated channel auxiliary subunit gamma 8bridging integrator 1
Synonyms-AMPH2|AMPHL|CNM2|SH3P9
Cytomap

19q13.42

2q14.3

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent calcium channel gamma-8 subunitTARP gamma-8calcium channel, voltage-dependent, gamma subunit 8neuronal voltage-gated calcium channel gamma-8 subunittransmembrane AMPAR regulatory protein gamma-8myc box-dependent-interacting protein 1amphiphysin IIamphiphysin-like proteinbox dependant MYC interacting protein 1box-dependent myc-interacting protein 1
Modification date2018052320180522
UniProtAcc

Q8WXS5

O00499

Ensembl transtripts involved in fusion geneENST00000270458, ENST00000376113, 
ENST00000346226, ENST00000352848, 
ENST00000393041, ENST00000348750, 
ENST00000357970, ENST00000259238, 
ENST00000393040, ENST00000351659, 
ENST00000316724, ENST00000409400, 
ENST00000466111, 
Fusion gene scores* DoF score2 X 2 X 1=45 X 5 X 3=75
# samples 36
** MAII scorelog2(3/4*10)=2.90689059560852log2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNG8 [Title/Abstract] AND BIN1 [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
HgeneCACNG8

GO:2000311

regulation of AMPA receptor activity

20805473|21172611

TgeneBIN1

GO:0043065

positive regulation of apoptotic process

16530520

TgeneBIN1

GO:0071156

regulation of cell cycle arrest

10412034


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
ChiTaRS3.1BI034622CACNG8chr19

54484133

+BIN1chr2

127815247

+
ChiTaRS3.1BF963566CACNG8chr19

54484133

+BIN1chr2

127815247

+
* 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-intronENST00000270458ENST00000376113CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000346226CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000352848CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000393041CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000348750CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000357970CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000259238CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000393040CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000351659CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000316724CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000409400CACNG8chr19

54484133

+BIN1chr2

127815247

+
intron-intronENST00000270458ENST00000466111CACNG8chr19

54484133

+BIN1chr2

127815247

+

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FusionProtFeatures for CACNG8_BIN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNG8

Q8WXS5

BIN1

O00499

Regulates the activity of L-type calcium channels thatcontain CACNA1C as pore-forming subunit (By similarity). Regulatesthe trafficking and gating properties of AMPA-selective glutamatereceptors (AMPARs). Promotes their targeting to the cell membraneand synapses and modulates their gating properties by slowingtheir rates of activation, deactivation and desensitization and bymediating their resensitization. Does not show subunit-specificAMPA receptor regulation and regulates all AMPAR subunits.{ECO:0000250|UniProtKB:Q8VHW2, ECO:0000269|PubMed:20805473,ECO:0000269|PubMed:21172611}.

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 CACNG8_BIN1


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 CACNG8_BIN1


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 CACNG8_BIN1


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 CACNG8_BIN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNG8C0036341Schizophrenia1PSYGENET
TgeneBIN1C0002395Alzheimer's Disease1CTD_human
TgeneBIN1C0410204Myopathy, Centronuclear, Autosomal Recessive1CTD_human;ORPHANET;UNIPROT
TgeneBIN1C0752282Congenital Structural Myopathy1CTD_human