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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ATR-R3HDM2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ATR-R3HDM2
	FusionPDB ID: 8339
	FusionGDB2.0 ID: 8339
		Hgene	Tgene
	Gene symbol	ATR	R3HDM2
	Gene ID	390502	22864
	Gene name	serpin family A member 2 (gene/pseudogene)	R3H domain containing 2
	Synonyms	ARGS\|ATR\|PIL\|SERPINA2P\|psiATR	CAG6\|PR01365
	Cytomap	14q32.13	12q13.3
	Type of gene	protein-coding	protein-coding
	Description	putative alpha-1-antitrypsin-related proteinserine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2serpin A2serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene	R3H domain-containing protein 2
	Modification date	20200313	20200320
	UniProtAcc	P46100	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000350721, ENST00000383101,	ENST00000546843, ENST00000347140, ENST00000358907, ENST00000402412, ENST00000403821, ENST00000413953, ENST00000441731,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	8 X 6 X 6=288	12 X 12 X 7=1008
	# samples	10	14
	** MAII score	log2(10/288*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(14/1008*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ATR [Title/Abstract] AND R3HDM2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ATR(142284963)-R3HDM2(57650294), # samples:3
Anticipated loss of major functional domain due to fusion event.	ATR-R3HDM2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ATR-R3HDM2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ATR-R3HDM2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ATR-R3HDM2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Fusion gene breakpoints across ATR (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across R3HDM2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	STAD	TCGA-VQ-AA6D-01A	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-
ChimerDB4	STAD	TCGA-VQ-AA6D	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000350721	ATR	chr3	142284963	-	ENST00000413953	R3HDM2	chr12	57650294	-	827	414	122	616	164
ENST00000350721	ATR	chr3	142284963	-	ENST00000347140	R3HDM2	chr12	57650294	-	1947	414	122	937	271
ENST00000350721	ATR	chr3	142284963	-	ENST00000358907	R3HDM2	chr12	57650294	-	1946	414	122	937	271
ENST00000350721	ATR	chr3	142284963	-	ENST00000402412	R3HDM2	chr12	57650294	-	1946	414	122	937	271
ENST00000350721	ATR	chr3	142284963	-	ENST00000441731	R3HDM2	chr12	57650294	-	986	414	122	937	271
ENST00000350721	ATR	chr3	142284963	-	ENST00000403821	R3HDM2	chr12	57650294	-	955	414	122	937	271
ENST00000383101	ATR	chr3	142284963	-	ENST00000413953	R3HDM2	chr12	57650294	-	827	414	122	616	164
ENST00000383101	ATR	chr3	142284963	-	ENST00000347140	R3HDM2	chr12	57650294	-	1947	414	122	937	271
ENST00000383101	ATR	chr3	142284963	-	ENST00000358907	R3HDM2	chr12	57650294	-	1946	414	122	937	271
ENST00000383101	ATR	chr3	142284963	-	ENST00000402412	R3HDM2	chr12	57650294	-	1946	414	122	937	271
ENST00000383101	ATR	chr3	142284963	-	ENST00000441731	R3HDM2	chr12	57650294	-	986	414	122	937	271
ENST00000383101	ATR	chr3	142284963	-	ENST00000403821	R3HDM2	chr12	57650294	-	955	414	122	937	271
ENST00000350721	ATR	chr3	142284962	-	ENST00000413953	R3HDM2	chr12	57650294	-	827	414	122	616	164
ENST00000350721	ATR	chr3	142284962	-	ENST00000347140	R3HDM2	chr12	57650294	-	1947	414	122	937	271
ENST00000350721	ATR	chr3	142284962	-	ENST00000358907	R3HDM2	chr12	57650294	-	1946	414	122	937	271
ENST00000350721	ATR	chr3	142284962	-	ENST00000402412	R3HDM2	chr12	57650294	-	1946	414	122	937	271
ENST00000350721	ATR	chr3	142284962	-	ENST00000441731	R3HDM2	chr12	57650294	-	986	414	122	937	271
ENST00000350721	ATR	chr3	142284962	-	ENST00000403821	R3HDM2	chr12	57650294	-	955	414	122	937	271
ENST00000383101	ATR	chr3	142284962	-	ENST00000413953	R3HDM2	chr12	57650294	-	827	414	122	616	164
ENST00000383101	ATR	chr3	142284962	-	ENST00000347140	R3HDM2	chr12	57650294	-	1947	414	122	937	271
ENST00000383101	ATR	chr3	142284962	-	ENST00000358907	R3HDM2	chr12	57650294	-	1946	414	122	937	271
ENST00000383101	ATR	chr3	142284962	-	ENST00000402412	R3HDM2	chr12	57650294	-	1946	414	122	937	271
ENST00000383101	ATR	chr3	142284962	-	ENST00000441731	R3HDM2	chr12	57650294	-	986	414	122	937	271
ENST00000383101	ATR	chr3	142284962	-	ENST00000403821	R3HDM2	chr12	57650294	-	955	414	122	937	271

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000350721	ENST00000413953	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.004567989	0.995432
ENST00000350721	ENST00000347140	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.001169787	0.99883026
ENST00000350721	ENST00000358907	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.001162576	0.9988374
ENST00000350721	ENST00000402412	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.001162576	0.9988374
ENST00000350721	ENST00000441731	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.002532249	0.99746776
ENST00000350721	ENST00000403821	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.002322117	0.99767786
ENST00000383101	ENST00000413953	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.004567989	0.995432
ENST00000383101	ENST00000347140	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.001169787	0.99883026
ENST00000383101	ENST00000358907	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.001162576	0.9988374
ENST00000383101	ENST00000402412	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.001162576	0.9988374
ENST00000383101	ENST00000441731	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.002532249	0.99746776
ENST00000383101	ENST00000403821	ATR	chr3	142284963	-	R3HDM2	chr12	57650294	-	0.002322117	0.99767786
ENST00000350721	ENST00000413953	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.004567989	0.995432
ENST00000350721	ENST00000347140	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.001169787	0.99883026
ENST00000350721	ENST00000358907	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.001162576	0.9988374
ENST00000350721	ENST00000402412	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.001162576	0.9988374
ENST00000350721	ENST00000441731	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.002532249	0.99746776
ENST00000350721	ENST00000403821	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.002322117	0.99767786
ENST00000383101	ENST00000413953	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.004567989	0.995432
ENST00000383101	ENST00000347140	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.001169787	0.99883026
ENST00000383101	ENST00000358907	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.001162576	0.9988374
ENST00000383101	ENST00000402412	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.001162576	0.9988374
ENST00000383101	ENST00000441731	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.002532249	0.99746776
ENST00000383101	ENST00000403821	ATR	chr3	142284962	-	R3HDM2	chr12	57650294	-	0.002322117	0.99767786

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>8339_8339_1_ATR-R3HDM2_ATR_chr3_142284962_ENST00000350721_R3HDM2_chr12_57650294_ENST00000347140_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_2_ATR-R3HDM2_ATR_chr3_142284962_ENST00000350721_R3HDM2_chr12_57650294_ENST00000358907_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_3_ATR-R3HDM2_ATR_chr3_142284962_ENST00000350721_R3HDM2_chr12_57650294_ENST00000402412_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_4_ATR-R3HDM2_ATR_chr3_142284962_ENST00000350721_R3HDM2_chr12_57650294_ENST00000403821_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_5_ATR-R3HDM2_ATR_chr3_142284962_ENST00000350721_R3HDM2_chr12_57650294_ENST00000413953_length(amino acids)=164AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH

--------------------------------------------------------------

>8339_8339_6_ATR-R3HDM2_ATR_chr3_142284962_ENST00000350721_R3HDM2_chr12_57650294_ENST00000441731_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_7_ATR-R3HDM2_ATR_chr3_142284962_ENST00000383101_R3HDM2_chr12_57650294_ENST00000347140_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_8_ATR-R3HDM2_ATR_chr3_142284962_ENST00000383101_R3HDM2_chr12_57650294_ENST00000358907_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_9_ATR-R3HDM2_ATR_chr3_142284962_ENST00000383101_R3HDM2_chr12_57650294_ENST00000402412_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_10_ATR-R3HDM2_ATR_chr3_142284962_ENST00000383101_R3HDM2_chr12_57650294_ENST00000403821_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_11_ATR-R3HDM2_ATR_chr3_142284962_ENST00000383101_R3HDM2_chr12_57650294_ENST00000413953_length(amino acids)=164AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH

--------------------------------------------------------------

>8339_8339_12_ATR-R3HDM2_ATR_chr3_142284962_ENST00000383101_R3HDM2_chr12_57650294_ENST00000441731_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_13_ATR-R3HDM2_ATR_chr3_142284963_ENST00000350721_R3HDM2_chr12_57650294_ENST00000347140_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_14_ATR-R3HDM2_ATR_chr3_142284963_ENST00000350721_R3HDM2_chr12_57650294_ENST00000358907_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_15_ATR-R3HDM2_ATR_chr3_142284963_ENST00000350721_R3HDM2_chr12_57650294_ENST00000402412_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_16_ATR-R3HDM2_ATR_chr3_142284963_ENST00000350721_R3HDM2_chr12_57650294_ENST00000403821_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_17_ATR-R3HDM2_ATR_chr3_142284963_ENST00000350721_R3HDM2_chr12_57650294_ENST00000413953_length(amino acids)=164AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH

--------------------------------------------------------------

>8339_8339_18_ATR-R3HDM2_ATR_chr3_142284963_ENST00000350721_R3HDM2_chr12_57650294_ENST00000441731_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_19_ATR-R3HDM2_ATR_chr3_142284963_ENST00000383101_R3HDM2_chr12_57650294_ENST00000347140_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_20_ATR-R3HDM2_ATR_chr3_142284963_ENST00000383101_R3HDM2_chr12_57650294_ENST00000358907_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_21_ATR-R3HDM2_ATR_chr3_142284963_ENST00000383101_R3HDM2_chr12_57650294_ENST00000402412_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_22_ATR-R3HDM2_ATR_chr3_142284963_ENST00000383101_R3HDM2_chr12_57650294_ENST00000403821_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

>8339_8339_23_ATR-R3HDM2_ATR_chr3_142284963_ENST00000383101_R3HDM2_chr12_57650294_ENST00000413953_length(amino acids)=164AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH

--------------------------------------------------------------

>8339_8339_24_ATR-R3HDM2_ATR_chr3_142284963_ENST00000383101_R3HDM2_chr12_57650294_ENST00000441731_length(amino acids)=271AA_BP=97
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHIMKSSPLMFVNVSGSH
EAKGSCIGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGLKHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADK
LFTQLAMSGAKIQWLKDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRMAKKNYDLRILERASS

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:142284963/chr12:57650294)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ATR P46100	.
FUNCTION: Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). {ECO:0000269\|PubMed:12953102, ECO:0000269\|PubMed:14990586, ECO:0000269\|PubMed:20504901, ECO:0000269\|PubMed:20651253, ECO:0000269\|PubMed:21029860, ECO:0000269\|PubMed:22391447, ECO:0000269\|PubMed:22829774, ECO:0000269\|PubMed:24500201, ECO:0000269\|PubMed:27029610}.	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.

Retention 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.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000347140

908_912

802.3333333333334

977.0

Compositional bias

Note=Poly-Gly

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000358907

908_912

802.3333333333334

977.0

Compositional bias

Note=Poly-Gly

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000347140

908_912

802.3333333333334

977.0

Compositional bias

Note=Poly-Gly

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000358907

908_912

802.3333333333334

977.0

Compositional bias

Note=Poly-Gly

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000350721

1640_2185

97.33333333333333

2645.0

Domain

FAT

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000350721

2322_2567

97.33333333333333

2645.0

Domain

PI3K/PI4K

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000350721

2612_2644

97.33333333333333

2645.0

Domain

FATC

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000383101

1640_2185

97.33333333333333

2581.0

Domain

FAT

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000383101

2322_2567

97.33333333333333

2581.0

Domain

PI3K/PI4K

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000383101

2612_2644

97.33333333333333

2581.0

Domain

FATC

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000350721

1640_2185

97.33333333333333

2645.0

Domain

FAT

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000350721

2322_2567

97.33333333333333

2645.0

Domain

PI3K/PI4K

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000350721

2612_2644

97.33333333333333

2645.0

Domain

FATC

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000383101

1640_2185

97.33333333333333

2581.0

Domain

FAT

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000383101

2322_2567

97.33333333333333

2581.0

Domain

PI3K/PI4K

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000383101

2612_2644

97.33333333333333

2581.0

Domain

FATC

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000350721

1329_1365

97.33333333333333

2645.0

Repeat

Note=HEAT 2

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000350721

799_835

97.33333333333333

2645.0

Repeat

Note=HEAT 1

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000383101

1329_1365

97.33333333333333

2581.0

Repeat

Note=HEAT 2

Hgene

ATR

chr3:142284962

chr12:57650294

ENST00000383101

799_835

97.33333333333333

2581.0

Repeat

Note=HEAT 1

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000350721

1329_1365

97.33333333333333

2645.0

Repeat

Note=HEAT 2

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000350721

799_835

97.33333333333333

2645.0

Repeat

Note=HEAT 1

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000383101

1329_1365

97.33333333333333

2581.0

Repeat

Note=HEAT 2

Hgene

ATR

chr3:142284963

chr12:57650294

ENST00000383101

799_835

97.33333333333333

2581.0

Repeat

Note=HEAT 1

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000347140

288_369

802.3333333333334

977.0

Compositional bias

Note=Ser-rich

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000347140

404_694

802.3333333333334

977.0

Compositional bias

Note=Gln-rich

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000358907

288_369

802.3333333333334

977.0

Compositional bias

Note=Ser-rich

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000358907

404_694

802.3333333333334

977.0

Compositional bias

Note=Gln-rich

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000347140

288_369

802.3333333333334

977.0

Compositional bias

Note=Ser-rich

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000347140

404_694

802.3333333333334

977.0

Compositional bias

Note=Gln-rich

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000358907

288_369

802.3333333333334

977.0

Compositional bias

Note=Ser-rich

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000358907

404_694

802.3333333333334

977.0

Compositional bias

Note=Gln-rich

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000347140

169_232

802.3333333333334

977.0

Domain

R3H

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000347140

233_310

802.3333333333334

977.0

Domain

SUZ

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000358907

169_232

802.3333333333334

977.0

Domain

R3H

Tgene

R3HDM2

chr3:142284962

chr12:57650294

ENST00000358907

233_310

802.3333333333334

977.0

Domain

SUZ

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000347140

169_232

802.3333333333334

977.0

Domain

R3H

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000347140

233_310

802.3333333333334

977.0

Domain

SUZ

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000358907

169_232

802.3333333333334

977.0

Domain

R3H

Tgene

R3HDM2

chr3:142284963

chr12:57650294

ENST00000358907

233_310

802.3333333333334

977.0

Domain

SUZ

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ATR
R3HDM2

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to ATR-R3HDM2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to ATR-R3HDM2

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source