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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ATXN10-PGR (FusionGDB2 ID:8487)

Fusion Gene Summary for ATXN10-PGR

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN10-PGR
Fusion gene ID: 8487
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 date2020031320200313
UniProtAcc

Q9UBB4

.
Ensembl transtripts involved in fusion geneENST00000381061, ENST00000252934, 
ENST00000498009, ENST00000402380, 
ENST00000325455, ENST00000534013, 
ENST00000263463, 
Fusion gene scores* DoF score16 X 12 X 11=21124 X 3 X 4=48
# samples 194
** MAII scorelog2(19/2112*10)=-3.47453851102751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointATXN10(46136418)-PGR(100962607), # samples:3
Anticipated loss of major functional domain due to fusion event.ATXN10-PGR seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATXN10-PGR seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
ATXN10-PGR seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ATXN10-PGR seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across ATXN10 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PGR (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-AX-A3GI-01AATXN10chr22

46136418

+PGRchr11

100962607

-
ChimerDB4UCECTCGA-AX-A3GIATXN10chr22

46136418

+PGRchr11

100962607

-
ChimerDB4UCECTCGA-AX-A3GI-01AATXN10chr22

46136418

+PGRchr11

100962607

-


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Fusion Gene ORF analysis for ATXN10-PGR

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-shiftENST00000381061ENST00000325455ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shiftENST00000381061ENST00000534013ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shiftENST00000381061ENST00000263463ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shiftENST00000252934ENST00000325455ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shiftENST00000252934ENST00000534013ATXN10chr22

46136418

+PGRchr11

100962607

-
Frame-shiftENST00000252934ENST00000263463ATXN10chr22

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

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ATXN10-PGR


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ATXN10-PGR


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q9UBB4

.
FUNCTION: 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 intracellular glycosylation level and homeostasis. {ECO:0000250}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for ATXN10-PGR


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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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Related Drugs for ATXN10-PGR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ATXN10-PGR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATXN10C0687120Nephronophthisis1GENOMICS_ENGLAND
HgeneATXN10C1963674Spinocerebellar Ataxia 101CTD_human;GENOMICS_ENGLAND;ORPHANET
TgenePGRC0025286Meningioma3CTD_human
TgenePGRC0205834Meningiomas, Multiple3CTD_human
TgenePGRC0259785Malignant Meningioma3CTD_human
TgenePGRC0281784Benign Meningioma3CTD_human
TgenePGRC0334605Meningothelial meningioma3CTD_human
TgenePGRC0334606Fibrous Meningioma3CTD_human
TgenePGRC0334607Psammomatous Meningioma3CTD_human
TgenePGRC0334608Angiomatous Meningioma3CTD_human
TgenePGRC0334609Hemangioblastic Meningioma3CTD_human
TgenePGRC0334610Hemangiopericytic Meningioma3CTD_human
TgenePGRC0334611Transitional Meningioma3CTD_human
TgenePGRC0347515Spinal Meningioma3CTD_human
TgenePGRC0349604Intracranial Meningioma3CTD_human
TgenePGRC0431121Clear Cell Meningioma3CTD_human
TgenePGRC0457190Xanthomatous Meningioma3CTD_human
TgenePGRC0751303Cerebral Convexity Meningioma3CTD_human
TgenePGRC0751304Parasagittal Meningioma3CTD_human
TgenePGRC1334261Intraorbital Meningioma3CTD_human
TgenePGRC1334271Intraventricular Meningioma3CTD_human
TgenePGRC1335107Olfactory Groove Meningioma3CTD_human
TgenePGRC1384406Secretory meningioma3CTD_human
TgenePGRC1384408Microcystic meningioma3CTD_human
TgenePGRC1527197Angioblastic Meningioma3CTD_human
TgenePGRC1565950Posterior Fossa Meningioma3CTD_human
TgenePGRC1565951Sphenoid Wing Meningioma3CTD_human
TgenePGRC3163622Papillary Meningioma3CTD_human
TgenePGRC0006142Malignant neoplasm of breast2CTD_human
TgenePGRC0014175Endometriosis2CTD_human
TgenePGRC0269102Endometrioma2CTD_human
TgenePGRC0678222Breast Carcinoma2CTD_human
TgenePGRC1257931Mammary Neoplasms, Human2CTD_human
TgenePGRC1458155Mammary Neoplasms2CTD_human
TgenePGRC4704874Mammary Carcinoma, Human2CTD_human
TgenePGRC0001418Adenocarcinoma1CTD_human
TgenePGRC0007097Carcinoma1CTD_human
TgenePGRC0014170Endometrial Neoplasms1CTD_human
TgenePGRC0024667Animal Mammary Neoplasms1CTD_human
TgenePGRC0024668Mammary Neoplasms, Experimental1CTD_human
TgenePGRC0025500Mesothelioma1CTD_human
TgenePGRC0205641Adenocarcinoma, Basal Cell1CTD_human
TgenePGRC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgenePGRC0205643Carcinoma, Cribriform1CTD_human
TgenePGRC0205644Carcinoma, Granular Cell1CTD_human
TgenePGRC0205645Adenocarcinoma, Tubular1CTD_human
TgenePGRC0205696Anaplastic carcinoma1CTD_human
TgenePGRC0205697Carcinoma, Spindle-Cell1CTD_human
TgenePGRC0205698Undifferentiated carcinoma1CTD_human
TgenePGRC0205699Carcinomatosis1CTD_human
TgenePGRC0476089Endometrial Carcinoma1CTD_human
TgenePGRC1257925Mammary Carcinoma, Animal1CTD_human