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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: 8697

FusionGeneSummary for CSTA_CASR

check button Fusion gene summary
Fusion gene informationFusion gene name: CSTA_CASR
Fusion gene ID: 8697
HgeneTgene
Gene symbol

CSTA

CASR

Gene ID

1475

846

Gene namecystatin Acalcium sensing receptor
SynonymsAREI|PSS4|STF1|STFACAR|EIG8|FHH|FIH|GPRC2A|HHC|HHC1|HYPOC1|NSHPT|PCAR1|hCasR
Cytomap

3q21.1

3q13.33-q21.1

Type of geneprotein-codingprotein-coding
Descriptioncystatin-Acystatin A (stefin A)cystatin ASextracellular calcium-sensing receptorparathyroid Ca(2+)-sensing receptor 1parathyroid cell calcium-sensing receptor 1
Modification date2018052320180527
UniProtAcc

P01040

P41180

Ensembl transtripts involved in fusion geneENST00000264474, ENST00000479204, 
ENST00000490131, ENST00000498619, 
ENST00000296154, 
Fusion gene scores* DoF score3 X 3 X 2=185 X 3 X 6=90
# samples 48
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/90*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CSTA [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
HgeneCSTA

GO:0010466

negative regulation of peptidase activity

6203523

HgeneCSTA

GO:0018149

peptide cross-linking

10908733

HgeneCSTA

GO:0030216

keratinocyte differentiation

10908733

HgeneCSTA

GO:0045861

negative regulation of proteolysis

3488317

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
TCGARVLUSCTCGA-92-8065-01ACSTAchr3

122056495

+CASRchr3

121994659

+
TCGALDLUSCTCGA-56-8082-01ACSTAchr3

122056495

+CASRchr3

121994659

+
* 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
In-frameENST00000264474ENST00000490131CSTAchr3

122056495

+CASRchr3

121994659

+
In-frameENST00000264474ENST00000498619CSTAchr3

122056495

+CASRchr3

121994659

+
In-frameENST00000264474ENST00000296154CSTAchr3

122056495

+CASRchr3

121994659

+
Frame-shiftENST00000479204ENST00000490131CSTAchr3

122056495

+CASRchr3

121994659

+
Frame-shiftENST00000479204ENST00000498619CSTAchr3

122056495

+CASRchr3

121994659

+
Frame-shiftENST00000479204ENST00000296154CSTAchr3

122056495

+CASRchr3

121994659

+

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FusionProtFeatures for CSTA_CASR


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

P01040

CASR

P41180

This is an intracellular thiol proteinase inhibitor. Hasan important role in desmosome-mediated cell-cell adhesion in thelower levels of the epidermis. {ECO:0000269|PubMed:21944047}. 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
HgeneCSTAchr3:122056495chr3:121994659ENST00000264474+2346_505699MotifNote=Secondary area of contact
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26542_6124591079RegionCysteine-rich (CR)
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37542_6124591079RegionCysteine-rich (CR)
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26636_6494591079Topological domainCytoplasmic
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26671_6814591079Topological domainExtracellular
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26701_7244591079Topological domainCytoplasmic
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26746_7694591079Topological domainExtracellular
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26793_8054591079Topological domainCytoplasmic
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26829_8364591079Topological domainExtracellular
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26863_10784591079Topological domainCytoplasmic
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37636_6494591079Topological domainCytoplasmic
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37671_6814591079Topological domainExtracellular
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37701_7244591079Topological domainCytoplasmic
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37746_7694591079Topological domainExtracellular
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37793_8054591079Topological domainCytoplasmic
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37829_8364591079Topological domainExtracellular
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37863_10784591079Topological domainCytoplasmic
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26613_6354591079TransmembraneHelical%3B Name%3D1
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26650_6704591079TransmembraneHelical%3B Name%3D2
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26682_7004591079TransmembraneHelical%3B Name%3D3
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26725_7454591079TransmembraneHelical%3B Name%3D4
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26770_7924591079TransmembraneHelical%3B Name%3D5
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26806_8284591079TransmembraneHelical%3B Name%3D6
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26837_8624591079TransmembraneHelical%3B Name%3D7
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37613_6354591079TransmembraneHelical%3B Name%3D1
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37650_6704591079TransmembraneHelical%3B Name%3D2
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37682_7004591079TransmembraneHelical%3B Name%3D3
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37725_7454591079TransmembraneHelical%3B Name%3D4
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37770_7924591079TransmembraneHelical%3B Name%3D5
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37806_8284591079TransmembraneHelical%3B Name%3D6
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37837_8624591079TransmembraneHelical%3B Name%3D7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26189_3244591079RegionLigand-binding 2 (LB2)
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+2622_1884591079RegionLigand-binding 1 (LB1)
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26415_4174591079RegionAnion binding
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+2666_704591079RegionAnion binding
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37189_3244591079RegionLigand-binding 2 (LB2)
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+3722_1884591079RegionLigand-binding 1 (LB1)
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37415_4174591079RegionAnion binding
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+3766_704591079RegionAnion binding
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+2620_6124591079Topological domainExtracellular
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+3720_6124591079Topological domainExtracellular


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FusionGeneSequence for CSTA_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 CSTA_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
CSTACTSB, CTSL, CTSH, PI3, KRT1, LOR, DSP, IVL, CSTA, USP53, UCHL5, RAD21, TCF3, CUL4B, CUL2, CDK2, METTL23, CEP57, ZDHHC17, TCTN3, RASSF9, RASSF10, HERC2, FOXR1, MCM2, EGFR, ZIC1, CYLDCASRFLNA, CASR, CHD8, RNF19A, VCP, STAMBP, PRKCA, PRKCB, PRKCG, OS9


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneCASRchr3:122056495chr3:121994659ENST00000296154+26880_9004591079RNF19A
TgeneCASRchr3:122056495chr3:121994659ENST00000490131+37880_9004591079RNF19A


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 CSTA_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 CSTA_CASR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCSTAC0017636Glioblastoma1CTD_human
HgeneCSTAC0027627Neoplasm Metastasis1CTD_human
HgeneCSTAC2931822Nasopharyngeal carcinoma1CTD_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