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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: 36704

FusionGeneSummary for SUCLA2_CASR

check button Fusion gene summary
Fusion gene informationFusion gene name: SUCLA2_CASR
Fusion gene ID: 36704
HgeneTgene
Gene symbol

SUCLA2

CASR

Gene ID

8803

846

Gene namesuccinate-CoA ligase ADP-forming beta subunitcalcium sensing receptor
SynonymsA-BETA|A-SCS|MTDPS5|SCS-betaACAR|EIG8|FHH|FIH|GPRC2A|HHC|HHC1|HYPOC1|NSHPT|PCAR1|hCasR
Cytomap

13q14.2

3q13.33-q21.1

Type of geneprotein-codingprotein-coding
Descriptionsuccinate--CoA ligase [ADP-forming] subunit beta, mitochondrialATP-specific succinyl-CoA synthetase subunit betaATP-specific succinyl-CoA synthetase, beta subunitmitochondrial succinyl-CoA ligase [ADP-forming] subunit betarenal carcinoma antigen NY-REextracellular calcium-sensing receptorparathyroid Ca(2+)-sensing receptor 1parathyroid cell calcium-sensing receptor 1
Modification date2018052220180527
UniProtAcc

Q9P2R7

P41180

Ensembl transtripts involved in fusion geneENST00000378654, ENST00000544100, 
ENST00000534875, ENST00000543413, 
ENST00000497202, 
ENST00000490131, 
ENST00000498619, ENST00000296154, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 3 X 6=90
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/90*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SUCLA2 [Title/Abstract] AND CASR [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
TgeneCASR

GO:0005513

detection of calcium ion

27434672

TgeneCASR

GO:0006874

cellular calcium ion homeostasis

27434672

TgeneCASR

GO:0007186

G-protein coupled receptor signaling pathway

27434672

TgeneCASR

GO:0070509

calcium ion import

20846291


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
TCGARVBRCATCGA-D8-A27V-01ASUCLA2chr13

48611742

-CASRchr3

121972795

+
* 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-5UTRENST00000378654ENST00000490131SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-5UTRENST00000378654ENST00000498619SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-intronENST00000378654ENST00000296154SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-5UTRENST00000544100ENST00000490131SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-5UTRENST00000544100ENST00000498619SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-intronENST00000544100ENST00000296154SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-5UTRENST00000534875ENST00000490131SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-5UTRENST00000534875ENST00000498619SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-intronENST00000534875ENST00000296154SUCLA2chr13

48611742

-CASRchr3

121972795

+
5UTR-5UTRENST00000543413ENST00000490131SUCLA2chr13

48611742

-CASRchr3

121972795

+
5UTR-5UTRENST00000543413ENST00000498619SUCLA2chr13

48611742

-CASRchr3

121972795

+
5UTR-intronENST00000543413ENST00000296154SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-5UTRENST00000497202ENST00000490131SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-5UTRENST00000497202ENST00000498619SUCLA2chr13

48611742

-CASRchr3

121972795

+
intron-intronENST00000497202ENST00000296154SUCLA2chr13

48611742

-CASRchr3

121972795

+

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FusionProtFeatures for SUCLA2_CASR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SUCLA2

Q9P2R7

CASR

P41180

ATP-specific succinyl-CoA synthetase functions in thecitric acid cycle (TCA), coupling the hydrolysis of succinyl-CoAto the synthesis of ATP and thus represents the only step ofsubstrate-level phosphorylation in the TCA (PubMed:15877282). Thebeta subunit provides nucleotide specificity of the enzyme andbinds the substrate succinate, while the binding sites forcoenzyme A and phosphate are found in the alpha subunit (Bysimilarity). {ECO:0000255|HAMAP-Rule:MF_03220,ECO:0000269|PubMed:15877282}. G-protein-coupled receptor that senses changes in theextracellular concentration of calcium ions and plays a key rolein maintaining calcium homeostasis (PubMed:7759551,PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508,PubMed:19789209, PubMed:21566075, PubMed:22114145,PubMed:23966241, PubMed:25292184, PubMed:25104082,PubMed:26386835, PubMed:25766501, PubMed:22789683). Sensesfluctuations in the circulating calcium concentration andmodulates the production of parathyroid hormone (PTH) inparathyroid glands (By similarity). The activity of this receptoris mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:7759551). The G-protein-coupled receptor activity is activated by a co-agonist mechanism:aromatic amino acids, such as Trp or Phe, act concertedly withdivalent cations, such as calcium or magnesium, to achieve fullreceptor activation (PubMed:27434672, PubMed:27386547).{ECO:0000250|UniProtKB:Q9QY96, ECO:0000269|PubMed:17555508,ECO:0000269|PubMed:19789209, ECO:0000269|PubMed:21566075,ECO:0000269|PubMed:22114145, ECO:0000269|PubMed:22789683,ECO:0000269|PubMed:23966241, ECO:0000269|PubMed:25104082,ECO:0000269|PubMed:25292184, ECO:0000269|PubMed:25766501,ECO:0000269|PubMed:26386835, ECO:0000269|PubMed:27386547,ECO:0000269|PubMed:27434672, ECO:0000269|PubMed:7759551,ECO:0000269|PubMed:8636323, ECO:0000269|PubMed:8702647,ECO:0000269|PubMed:8878438}.

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 SUCLA2_CASR


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 SUCLA2_CASR


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
SUCLA2ALAS2, PSMD14, ICT1, AGO4, SUCLG1, SDHA, GRHPR, NIT2, OXCT1, HPDL, S100A16, SEC22B, RRM1, NADK2, MRPL12, RBM4, AGFG1, IDH3A, ARL6IP1, AGTRAP, CMTM5, FAM9B, EGFR, DLST, RAB2A, SSR4, ACADM, ETFA, NFS1, PSMC2, SDHB, NTRK1, UBXN8, FAF2, COQ9, NFATC2, METAP2, RAD21, DNLZ, MTIF2, C17orf80, ZMYND19, IQGAP2, GTPBP10, MKLN1, HARS2, MCCC1, ZNF146, LONP2, GFM1, MTNR1A, TESCASRFLNA, CASR, CHD8, RNF19A, VCP, STAMBP, PRKCA, PRKCB, PRKCG, OS9


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 SUCLA2_CASR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCASRP41180DB01012CinacalcetExtracellular calcium-sensing receptor {ECO:0000305}small moleculeapproved
TgeneCASRP41180DB11093Calcium CitrateExtracellular calcium-sensing receptor {ECO:0000305}small moleculeapproved
TgeneCASRP41180DB11348Calcium PhosphateExtracellular calcium-sensing receptor {ECO:0000305}small moleculeapproved
TgeneCASRP41180DB00994NeomycinExtracellular calcium-sensing receptor {ECO:0000305}small moleculeapproved|vet_approved

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RelatedDiseases for SUCLA2_CASR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSUCLA2C2749864MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)2CTD_human;ORPHANET;UNIPROT
HgeneSUCLA2C0028754Obesity1CTD_human
TgeneCASRC3715128HYPOCALCEMIA, AUTOSOMAL DOMINANT 115ORPHANET;UNIPROT
TgeneCASRC0342637Hypocalciuric hypercalcemia, familial, type 112CTD_human;ORPHANET;UNIPROT
TgeneCASRC1832615HYPERPARATHYROIDISM, NEONATAL SEVERE4CTD_human;ORPHANET;UNIPROT
TgeneCASRC0020502Hyperparathyroidism2CTD_human;HPO
TgeneCASRC0020598Hypocalcemia2CTD_human;HPO
TgeneCASRC0020437Hypercalcemia1CTD_human;HPO
TgeneCASRC0020626Hypoparathyroidism1CTD_human
TgeneCASRC1832648Hypoparathyroidism familial isolated1CTD_human
TgeneCASRC2752062EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 81UNIPROT