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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: 3559

FusionGeneSummary for ATXN10_PGR

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN10_PGR
Fusion gene ID: 3559
HgeneTgene
Gene symbol

ATXN10

PGR

Gene ID

25814

5241

Gene nameataxin 10progesterone receptor
SynonymsE46L|HUMEEP|SCA10NR3C3|PR
Cytomap

22q13.31

11q22.1

Type of geneprotein-codingprotein-coding
Descriptionataxin-10brain protein E46 homologspinocerebellar ataxia type 10 proteinprogesterone receptornuclear receptor subfamily 3 group C member 3
Modification date2018052220180520
UniProtAcc

Q9UBB4

P06401

Ensembl transtripts involved in fusion geneENST00000381061, ENST00000252934, 
ENST00000498009, ENST00000402380, 
ENST00000325455, ENST00000534013, 
ENST00000263463, 
Fusion gene scores* DoF score10 X 4 X 9=3603 X 2 X 3=18
# samples 103
** MAII scorelog2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATXN10 [Title/Abstract] AND PGR [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
HgeneATXN10

GO:0031175

neuron projection development

16498633

TgenePGR

GO:0045944

positive regulation of transcription by RNA polymerase II

17785366


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
TCGALDUCECTCGA-AX-A3GI-01AATXN10chr22

46136418

+PGRchr11

100962607

-
* 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-shitENST00000381061ENST00000325455ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shitENST00000381061ENST00000534013ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shitENST00000381061ENST00000263463ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shitENST00000252934ENST00000325455ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shitENST00000252934ENST00000534013ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shitENST00000252934ENST00000263463ATXN10chr22

46136418

+PGRchr11

100962607

-
intron-3CDSENST00000498009ENST00000325455ATXN10chr22

46136418

+PGRchr11

100962607

-
intron-3CDSENST00000498009ENST00000534013ATXN10chr22

46136418

+PGRchr11

100962607

-
intron-3CDSENST00000498009ENST00000263463ATXN10chr22

46136418

+PGRchr11

100962607

-
intron-3CDSENST00000402380ENST00000325455ATXN10chr22

46136418

+PGRchr11

100962607

-
intron-3CDSENST00000402380ENST00000534013ATXN10chr22

46136418

+PGRchr11

100962607

-
intron-3CDSENST00000402380ENST00000263463ATXN10chr22

46136418

+PGRchr11

100962607

-

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FusionProtFeatures for ATXN10_PGR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATXN10

Q9UBB4

PGR

P06401

Necessary for the survival of cerebellar neurons.Induces neuritogenesis by activating the Ras-MAP kinase pathway.May play a role in the maintenance of a critical intracellularglycosylation level and homeostasis. {ECO:0000250}. The steroid hormones and their receptors are involved inthe regulation of eukaryotic gene expression and affect cellularproliferation and differentiation in target tissues. Depending onthe isoform, progesterone receptor functions as transcriptionalactivator or repressor. {ECO:0000269|PubMed:10757795,ECO:0000269|PubMed:1587864, ECO:0000269|PubMed:9407067,ECO:0000305}. Isoform A: Ligand-dependent transdominant repressor ofsteroid hormone receptor transcriptional activity includingrepression of its isoform B, MR and ER. Transrepressional activitymay involve recruitment of corepressor NCOR2.{ECO:0000269|PubMed:7969170, ECO:0000269|PubMed:8180103,ECO:0000269|PubMed:8264658, ECO:0000305,ECO:0000305|PubMed:10757795}. Isoform B: Transcriptional activator of severalprogesteron-dependent promoters in a variety of cell types.Involved in activation of SRC-dependent MAPK signaling on hormonestimulation. {ECO:0000269|PubMed:7969170}. Isoform 4: Increases mitochondrial membrane potentialand cellular respiration upon stimulation by progesterone.

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 ATXN10_PGR


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 ATXN10_PGR


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
ATXN10BSG, STYXL1, MAGED1, GSTK1, CUL3, PPP1R12A, GNB1, GNB2, FN1, MRPS16, GLS, GOLGA1, ABCA1, CA9, VCP, EGFR, SERPINH1, HSPA1A, HSPA8, CCDC8, ABCE1, HTR6, HSPB1, CEP162, CEP152, CEP128, SCLT1, CENPJ, LAMB3, MYC, UBE2A, TUBA1C, MTMR14, DUSP22, PTPRN, STOM, DLDPGRUBE3A, SMARCD1, TDG, KLF9, CDC25B, POU2F1, POU2F2, DAP3, UBR5, RELA, FKBP5, NCOA1, DDX54, RNF4, PIAS2, HMGB1, HMGB2, NCOR2, NCOA3, CUEDC2, NCOR1, MAPK1, SMARCE1, ARID1A, SMARCA1, GNAI1, NR0B1, EP300, TAF1B, SP1, PRDM2, FGFR2, STAT5A, STAT5B, BRCA1, BATF3, JDP2, STAT3, NCOA2, KAT2B, CCNA1, CDK2, SRC, ESR1, COPS5, BPTF, STUB1, FKBP4, PPP5C, DNAJC7, MAGEA11, RBM23, RBM39, ANP32A, XRCC6, XRCC5, PRKDC, PARP1, PGR, BCAS2, SGTA, SPOP, DNAJA1, HSPA1A


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 ATXN10_PGR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePGRP06401DB00304DesogestrelProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB00421SpironolactoneProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB00648MitotaneProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB00717NorethisteroneProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB01395DrospirenoneProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB01406DanazolProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB01431AllylestrenolProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB08867UlipristalProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB09123DienogestProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB09124MedrogestoneProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB09389NorgestrelProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB11619GestrinoneProgesterone receptorsmall moleculeapproved
TgenePGRP06401DB00294EtonogestrelProgesterone receptorsmall moleculeapproved|investigational
TgenePGRP06401DB00367LevonorgestrelProgesterone receptorsmall moleculeapproved|investigational
TgenePGRP06401DB00603Medroxyprogesterone acetateProgesterone receptorsmall moleculeapproved|investigational
TgenePGRP06401DB00834MifepristoneProgesterone receptorsmall moleculeapproved|investigational
TgenePGRP06401DB00957NorgestimateProgesterone receptorsmall moleculeapproved|investigational
TgenePGRP06401DB06713NorelgestrominProgesterone receptorsmall moleculeapproved|investigational
TgenePGRP06401DB06789Hydroxyprogesterone caproateProgesterone receptorsmall moleculeapproved|investigational
TgenePGRP06401DB00351Megestrol acetateProgesterone receptorsmall moleculeapproved|investigational|vet_approved
TgenePGRP06401DB00378DydrogesteroneProgesterone receptorsmall moleculeapproved|investigational|withdrawn
TgenePGRP06401DB00396ProgesteroneProgesterone receptorsmall moleculeapproved|vet_approved
TgenePGRP06401DB00764MometasoneProgesterone receptorsmall moleculeapproved|vet_approved
TgenePGRP06401DB00431LindaneProgesterone receptorsmall moleculeapproved|withdrawn

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RelatedDiseases for ATXN10_PGR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePGRC0025286Meningioma3CTD_human
TgenePGRC0014175Endometriosis2CTD_human
TgenePGRC1458155Mammary Neoplasms2CTD_human
TgenePGRC0001418Adenocarcinoma1CTD_human
TgenePGRC0014170Endometrial Neoplasms1CTD_human
TgenePGRC0024667Animal Mammary Neoplasms1CTD_human
TgenePGRC0024668Mammary Neoplasms, Experimental1CTD_human
TgenePGRC0025500Mesothelioma1CTD_human