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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: 2762

FusionGeneSummary for ARMC8_CACNA2D2

check button Fusion gene summary
Fusion gene informationFusion gene name: ARMC8_CACNA2D2
Fusion gene ID: 2762
HgeneTgene
Gene symbol

ARMC8

CACNA2D2

Gene ID

25852

9254

Gene namearmadillo repeat containing 8calcium voltage-gated channel auxiliary subunit alpha2delta 2
SynonymsGID5|HSPC056|S863-2|VID28CACNA2D
Cytomap

3q22.3

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionarmadillo repeat-containing protein 8GID complex subunit 5, VID28 homologvoltage-dependent calcium channel subunit alpha-2/delta-2alpha 2 delta calcium channel subunitcalcium channel, voltage-dependent, alpha 2/delta subunit 2gene 26voltage-gated calcium channel subunit alpha-2/delta-2
Modification date2018052320180522
UniProtAcc

Q8IUR7

Q9NY47

Ensembl transtripts involved in fusion geneENST00000481646, ENST00000469044, 
ENST00000491704, ENST00000358441, 
ENST00000489213, ENST00000461822, 
ENST00000485396, ENST00000471453, 
ENST00000470821, ENST00000393058, 
ENST00000538260, 		ENST00000423994, 
ENST00000429770, ENST00000435965, 
ENST00000266039, ENST00000395083, 
ENST00000360963, ENST00000424201, 
ENST00000479441, ENST00000487413, 
Fusion gene scores* DoF score8 X 7 X 5=2806 X 6 X 4=144
# samples 96
** MAII scorelog2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARMC8 [Title/Abstract] AND CACNA2D2 [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
TCGARVBLCATCGA-XF-A9ST-01AARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
* 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-shiftENST00000481646ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000481646ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000481646ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000481646ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000481646ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000469044ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000469044ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000469044ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000469044ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000491704ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000491704ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000491704ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000491704ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000358441ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000358441ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000358441ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000358441ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000489213ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000489213ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000489213ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000489213ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000461822ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000461822ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000461822ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000461822ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000485396ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000485396ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000485396ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000485396ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000471453ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000471453ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000471453ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000471453ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000470821ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000470821ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000470821ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000470821ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000393058ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000393058ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000393058ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000393058ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000538260ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000538260ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000538260ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000538260ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-

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FusionProtFeatures for ARMC8_CACNA2D2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARMC8

Q8IUR7

CACNA2D2

Q9NY47

The alpha-2/delta subunit of voltage-dependent calciumchannels regulates calcium current density andactivation/inactivation kinetics of the calcium channel. Acts as aregulatory subunit for P/Q-type calcium channel (CACNA1A), N-type(CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type(CACNA1G). Overexpression induces apoptosis.{ECO:0000269|PubMed:12555074, ECO:0000269|PubMed:15111129}.

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 ARMC8_CACNA2D2


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 ARMC8_CACNA2D2


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
ARMC8RAE1, TNNT1, CTNNB1, CTNNA1, HGS, CUL3, NOTCH1, SOX2, EGFR, TCF12, GDNF, GLIPR1L2, MMP7, SFRP2, TDGF1, MRPL4, GPS2, MRPL39, PDHB, HLA-DPB1, RMND5A, MRPS30, IKZF3, PRG2, TCF4, TIGD5, BMP1, PRG3, PIGT, PRICKLE3, CCDC120, MRPS24, CUTA, MPP2, INSL6, MRPL38, NDUFS6, LILRB4, NKAP, SPINK7, JPH4, NFATC1, TLE4, LCA5, ADCYAP1, NCKIPSD, IKZF1, CDK5RAP1, ANGPTL4, ARHGAP22, HAPLN3, PTPN14, PTPN21, MKLN1, RANBP10, MAEA, WDR26, RANBP9, YPEL5, RMND5B, GID4, UBE2H, ZMYND19, HTRA2, GID8, DDX5, EFHC2, RAB8A, WWC1CACNA2D2USP2, TAZ, TMEM25, BTNL8, PTCH1, PTPRK, RNASE13, PON2, KRAS, SCGB1D4, DEFA1, SCGB1D1, PNLIPRP1, C7orf69, INSL5


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 ARMC8_CACNA2D2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCACNA2D2Q9NY47DB00270IsradipineVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
TgeneCACNA2D2Q9NY47DB00996GabapentinVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
TgeneCACNA2D2Q9NY47DB01023FelodipineVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
TgeneCACNA2D2Q9NY47DB01054NitrendipineVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
TgeneCACNA2D2Q9NY47DB01118AmiodaroneVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
TgeneCACNA2D2Q9NY47DB01244BepridilVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|withdrawn

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RelatedDiseases for ARMC8_CACNA2D2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCACNA2D2C0004134Ataxia1CTD_human
TgeneCACNA2D2C0008489Chorea1CTD_human
TgeneCACNA2D2C0014553Absence Epilepsy1CTD_human
TgeneCACNA2D2C0021361Female infertility1CTD_human