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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: 5213

FusionGeneSummary for CACNA2D2_THRSP

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA2D2_THRSP
Fusion gene ID: 5213
HgeneTgene
Gene symbol

CACNA2D2

THRSP

Gene ID

9254

7069

Gene namecalcium voltage-gated channel auxiliary subunit alpha2delta 2thyroid hormone responsive
SynonymsCACNA2DLPGP1|Lpgp|S14|SPOT14|THRP
Cytomap

3p21.31

11q14.1

Type of geneprotein-codingprotein-coding
Descriptionvoltage-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-2thyroid hormone-inducible hepatic proteinSPOT14 homologlipogenic protein 1spot 14 proteinthyroid hormone responsive (SPOT14 homolog, rat)thyroid hormone responsive SPOT14
Modification date2018052220180522
UniProtAcc

Q9NY47

Q92748

Ensembl transtripts involved in fusion geneENST00000423994, ENST00000429770, 
ENST00000435965, ENST00000266039, 
ENST00000395083, ENST00000360963, 
ENST00000424201, ENST00000479441, 
ENST00000487413, 
ENST00000281030, 
Fusion gene scores* DoF score3 X 3 X 2=189 X 1 X 5=45
# samples 39
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/45*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CACNA2D2 [Title/Abstract] AND THRSP [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
TCGARVSKCMTCGA-ER-A19T-01ACACNA2D2chr3

50540649

-THRSPchr11

77778705

+
* 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-3UTRENST00000423994ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+
5CDS-3UTRENST00000429770ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+
5CDS-3UTRENST00000435965ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+
5CDS-3UTRENST00000266039ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+
5CDS-3UTRENST00000395083ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+
intron-3UTRENST00000360963ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+
5CDS-3UTRENST00000424201ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+
5CDS-3UTRENST00000479441ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+
5UTR-3UTRENST00000487413ENST00000281030CACNA2D2chr3

50540649

-THRSPchr11

77778705

+

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FusionProtFeatures for CACNA2D2_THRSP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNA2D2

Q9NY47

THRSP

Q92748

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}. Plays a role in the regulation of lipogenesis,especially in lactating mammary gland. Important for thebiosynthesis of triglycerides with medium-length fatty acidchains. May modulate lipogenesis by interacting with MID1IP1 andpreventing its interaction with ACACA (By similarity). Mayfunction as transcriptional coactivator. May modulate thetranscription factor activity of THRB. {ECO:0000250,ECO:0000269|PubMed:17418816, ECO:0000269|PubMed:18299245}.

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 CACNA2D2_THRSP


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 CACNA2D2_THRSP


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
CACNA2D2USP2, TAZ, TMEM25, BTNL8, PTCH1, PTPRK, RNASE13, PON2, KRAS, SCGB1D4, DEFA1, SCGB1D1, PNLIPRP1, C7orf69, INSL5THRSPTHRSP, AKT1, AURKA, BAG4, BCAR3, BRMS1, FZR1, ERBB2, FGFR4, HMMR, IGF1R, KRAS, LSP1, PALB2, PARP1, PIK3CA, PTPN1, RB1CC1, SMAD4, STK11, TGFB1, TSG101, WT1


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 CACNA2D2_THRSP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNA2D2Q9NY47DB00270IsradipineVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
HgeneCACNA2D2Q9NY47DB00996GabapentinVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
HgeneCACNA2D2Q9NY47DB01023FelodipineVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
HgeneCACNA2D2Q9NY47DB01054NitrendipineVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
HgeneCACNA2D2Q9NY47DB01118AmiodaroneVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|investigational
HgeneCACNA2D2Q9NY47DB01244BepridilVoltage-dependent calcium channel subunit alpha-2/delta-2small moleculeapproved|withdrawn

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RelatedDiseases for CACNA2D2_THRSP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNA2D2C0004134Ataxia1CTD_human
HgeneCACNA2D2C0008489Chorea1CTD_human
HgeneCACNA2D2C0014553Absence Epilepsy1CTD_human
HgeneCACNA2D2C0021361Female infertility1CTD_human
TgeneTHRSPC0024667Animal Mammary Neoplasms1CTD_human
TgeneTHRSPC0024668Mammary Neoplasms, Experimental1CTD_human