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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:GYS1-KDELR1 (FusionGDB2 ID:35432)

Fusion Gene Summary for GYS1-KDELR1

Fusion gene summary

Fusion gene information	Fusion gene name: GYS1-KDELR1
	Fusion gene ID: 35432
		Hgene	Tgene
	Gene symbol	GYS1	KDELR1
	Gene ID	2997	10945
	Gene name	glycogen synthase 1	KDEL endoplasmic reticulum protein retention receptor 1
	Synonyms	GSY\|GYS	ERD2\|ERD2.1\|HDEL\|PM23
	Cytomap	19q13.33	19q13.33
	Type of gene	protein-coding	protein-coding
	Description	glycogen [starch] synthase, muscleglycogen synthase 1 (muscle)	ER lumen protein-retaining receptor 1KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1KDEL receptor 1putative MAPK-activating protein PM23
	Modification date	20200313	20200313
	UniProtAcc	P13807	P24390
	Ensembl transtripts involved in fusion gene	ENST00000263276, ENST00000323798, ENST00000540532, ENST00000541188, ENST00000457974, ENST00000544287,	ENST00000330720, ENST00000597017,
Fusion gene scores	* DoF score	9 X 10 X 7=630	6 X 7 X 2=84
	# samples	10	7
	** MAII score	log2(10/630*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: GYS1 [Title/Abstract] AND KDELR1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	GYS1(49489107)-KDELR1(48892968), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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
Hgene	GYS1	GO:0005978	glycogen biosynthetic process	16275910
Tgene	KDELR1	GO:0006890	retrograde vesicle-mediated transport, Golgi to ER	8392934\|18086916

Fusion gene breakpoints across GYS1 (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 KDELR1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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	ACC	TCGA-PK-A5HB-01A	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-

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Fusion Gene ORF analysis for GYS1-KDELR1

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
In-frame	ENST00000263276	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
In-frame	ENST00000263276	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
In-frame	ENST00000323798	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
In-frame	ENST00000323798	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
In-frame	ENST00000540532	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
In-frame	ENST00000540532	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
In-frame	ENST00000541188	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
In-frame	ENST00000541188	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
intron-3CDS	ENST00000457974	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
intron-3CDS	ENST00000457974	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
intron-3CDS	ENST00000544287	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-
intron-3CDS	ENST00000544287	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)
ENST00000323798	GYS1	chr19	49489107	-	ENST00000330720	KDELR1	chr19	48892968	-	2045	875	20	1321	433
ENST00000323798	GYS1	chr19	49489107	-	ENST00000597017	KDELR1	chr19	48892968	-	2037	875	20	1321	433
ENST00000263276	GYS1	chr19	49489107	-	ENST00000330720	KDELR1	chr19	48892968	-	1854	684	21	1130	369
ENST00000263276	GYS1	chr19	49489107	-	ENST00000597017	KDELR1	chr19	48892968	-	1846	684	21	1130	369
ENST00000541188	GYS1	chr19	49489107	-	ENST00000330720	KDELR1	chr19	48892968	-	1863	693	255	1139	294
ENST00000541188	GYS1	chr19	49489107	-	ENST00000597017	KDELR1	chr19	48892968	-	1855	693	255	1139	294
ENST00000540532	GYS1	chr19	49489107	-	ENST00000330720	KDELR1	chr19	48892968	-	1863	693	255	1139	294
ENST00000540532	GYS1	chr19	49489107	-	ENST00000597017	KDELR1	chr19	48892968	-	1855	693	255	1139	294

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
ENST00000323798	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-	0.002051298	0.9979487
ENST00000323798	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-	0.00203439	0.9979657
ENST00000263276	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-	0.001274003	0.99872595
ENST00000263276	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-	0.001262111	0.9987379
ENST00000541188	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-	0.01092562	0.9890744
ENST00000541188	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-	0.010731517	0.9892685
ENST00000540532	ENST00000330720	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-	0.01092562	0.9890744
ENST00000540532	ENST00000597017	GYS1	chr19	49489107	-	KDELR1	chr19	48892968	-	0.010731517	0.9892685

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Fusion Genomic Features for GYS1-KDELR1

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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 GYS1-KDELR1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:49489107/chr19:48892968)
- 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
GYS1 P13807	KDELR1 P24390
FUNCTION: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.	FUNCTION: Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. {ECO:0000269\|PubMed:11703931, ECO:0000269\|PubMed:14517323, ECO:0000269\|PubMed:18086916, ECO:0000269\|PubMed:30846601, ECO:0000269\|PubMed:8392934}.

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.

- In-frame and 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

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

111_116

213.0

Topological domain

Lumenal

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

136_149

213.0

Topological domain

Cytoplasmic

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

169_178

213.0

Topological domain

Lumenal

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

200_212

213.0

Topological domain

Cytoplasmic

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

80_92

213.0

Topological domain

Cytoplasmic

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

117_135

213.0

Transmembrane

Helical

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

150_168

213.0

Transmembrane

Helical

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

179_199

213.0

Transmembrane

Helical

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

93_110

213.0

Transmembrane

Helical

- In-frame and 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

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

1_4

213.0

Topological domain

Lumenal

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

25_32

213.0

Topological domain

Cytoplasmic

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

53_58

213.0

Topological domain

Lumenal

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

33_52

213.0

Transmembrane

Helical

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

59_79

213.0

Transmembrane

Helical

Tgene

KDELR1

chr19:49489107

chr19:48892968

ENST00000330720

5_24

213.0

Transmembrane

Helical

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Fusion Gene Sequence for GYS1-KDELR1

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.

>35432_35432_1_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000263276_KDELR1_chr19_48892968_ENST00000330720_length(transcript)=1854nt_BP=684nt
CAGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCT
TCCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCC
CCCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTG
GAGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGTGGGTGGCATCTACACGGTGCTGCAGACGAAGGCGAAGGTGACA
GGGGACGAATGGGGCGACAACTACTTCCTGGTGGGGCCGTACACGGAGCAGGGCGTGAGGACCCAGGTGGAACTGCTGGAGGCCCCCACC
CCGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTGGTTGCTCAC
TTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCCATGCCACGCTG
CTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACGTGGTCTACATAGCCTGCTCCTTCACCACGGTCTGG
TTGATTTATAGCAAGTTCAAAGCTACTTACGATGGGAACCATGACACGTTCAGAGTGGAGTTCCTGGTCGTTCCCACAGCCATTCTGGCG
TTCCTGGTCAATCATGACTTCACCCCTCTGGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCAGTGGCCATCTTGCCGCAGCTGTTC
ATGGTGAGCAAGACCGGCGAGGCGGAGACCATCACCAGCCACTACTTGTTTGCGCTAGGCGTTTACCGCACGCTCTATCTCTTCAACTGG
ATCTGGCGCTACCATTTCGAGGGCTTCTTCGACCTCATCGCCATTGTGGCAGGCCTGGTCCAGACAGTCCTCTACTGCGATTTCTTCTAC
CTCTATATCACCAAAGTCCTAAAGGGGAAGAAGTTGAGTTTGCCGGCATAGCCCCGGTCCTCTCCATCTCTCTCCTCGGCAGCAGCGGGA
GGCAGAGGAAGGCGGCAGAAGATGAAGAGCTTTCCCATCCAGGGGTGACTTTTTTAAGAACCCACCTCTTGTGCTCCCCATCCCGCCTCC
TGCCGGGTTTCAGGGGGACAGTGGAGGATCCAGGTCTTGGGGAGCTCAGGACTTGGGCTGTTTGTAGTTTTTTGCCTTTTAGACAAGAAA
AAAAAATCTTTCCACTCTTTAGTTTTTGATTCTGATGACTCGTTTTTCTTCTACTCTGTGGCCCCAATTTTTATAAAGTGTTTTTGAGTG
TCCTATGGGCCGGGGCAGGGTCCAAGATCTTTTCCCTTCCCCAGGCCCCTCGGCTCCCTCCCAGATCCCACCCCCAGCCCCACTGGTTGC
CAAACACTAAATCTGCCGACACCCATCTGCCCCACCTCCTGCCATGGCCATGAACCGCGACCCCCACTAAATTTCTAGATTGGGGATAGG
GAGAAAGGGAGGCCCAGGAAGGTCTCCCCTGATTTTTTTTCATAGTAATTTTTTTCCCCAGAGTTTGAATTTTTTGGTCTTCTCCTGGTT
TTTTGGCAAATTAGGGGGGCCCGGGGCTCAAGTGCGGGAAGGGGGCTGGCCCGAGGATCCCATGGCTCTCACACCATGTTTTTGTACAGA

>35432_35432_1_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000263276_KDELR1_chr19_48892968_ENST00000330720_length(amino acids)=369AA_BP=1
MPRSQRFGAGVRSCNRKPSVLQASRRAPATRPRTLPGAFPRHLRGPYLEIPGAPLPAPAMPLNRTLSMSSLPGLEDWEDEFDLENAVLFE
VAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKFLAQSEEKPHVVAHFHEWLAG
VGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENVVYIACSFTTVWLIYSKFKATYDGNHDTFRVEFLVVPTAILAFLVNHDF
TPLEILWTFSIYLESVAILPQLFMVSKTGEAETITSHYLFALGVYRTLYLFNWIWRYHFEGFFDLIAIVAGLVQTVLYCDFFYLYITKVL

--------------------------------------------------------------
>35432_35432_2_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000263276_KDELR1_chr19_48892968_ENST00000597017_length(transcript)=1846nt_BP=684nt
CAGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCT
TCCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCC
CCCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTG
GAGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGTGGGTGGCATCTACACGGTGCTGCAGACGAAGGCGAAGGTGACA
GGGGACGAATGGGGCGACAACTACTTCCTGGTGGGGCCGTACACGGAGCAGGGCGTGAGGACCCAGGTGGAACTGCTGGAGGCCCCCACC
CCGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTGGTTGCTCAC
TTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCCATGCCACGCTG
CTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACGTGGTCTACATAGCCTGCTCCTTCACCACGGTCTGG
TTGATTTATAGCAAGTTCAAAGCTACTTACGATGGGAACCATGACACGTTCAGAGTGGAGTTCCTGGTCGTTCCCACAGCCATTCTGGCG
TTCCTGGTCAATCATGACTTCACCCCTCTGGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCAGTGGCCATCTTGCCGCAGCTGTTC
ATGGTGAGCAAGACCGGCGAGGCGGAGACCATCACCAGCCACTACTTGTTTGCGCTAGGCGTTTACCGCACGCTCTATCTCTTCAACTGG
ATCTGGCGCTACCATTTCGAGGGCTTCTTCGACCTCATCGCCATTGTGGCAGGCCTGGTCCAGACAGTCCTCTACTGCGATTTCTTCTAC
CTCTATATCACCAAAGTCCTAAAGGGGAAGAAGTTGAGTTTGCCGGCATAGCCCCGGTCCTCTCCATCTCTCTCCTCGGCAGCAGCGGGA
GGCAGAGGAAGGCGGCAGAAGATGAAGAGCTTTCCCATCCAGGGGTGACTTTTTTAAGAACCCACCTCTTGTGCTCCCCATCCCGCCTCC
TGCCGGGTTTCAGGGGGACAGTGGAGGATCCAGGTCTTGGGGAGCTCAGGACTTGGGCTGTTTGTAGTTTTTTGCCTTTTAGACAAGAAA
AAAAAATCTTTCCACTCTTTAGTTTTTGATTCTGATGACTCGTTTTTCTTCTACTCTGTGGCCCCAATTTTTATAAAGTGTTTTTGAGTG
TCCTATGGGCCGGGGCAGGGTCCAAGATCTTTTCCCTTCCCCAGGCCCCTCGGCTCCCTCCCAGATCCCACCCCCAGCCCCACTGGTTGC
CAAACACTAAATCTGCCGACACCCATCTGCCCCACCTCCTGCCATGGCCATGAACCGCGACCCCCACTAAATTTCTAGATTGGGGATAGG
GAGAAAGGGAGGCCCAGGAAGGTCTCCCCTGATTTTTTTTCATAGTAATTTTTTTCCCCAGAGTTTGAATTTTTTGGTCTTCTCCTGGTT
TTTTGGCAAATTAGGGGGGCCCGGGGCTCAAGTGCGGGAAGGGGGCTGGCCCGAGGATCCCATGGCTCTCACACCATGTTTTTGTACAGA

>35432_35432_2_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000263276_KDELR1_chr19_48892968_ENST00000597017_length(amino acids)=369AA_BP=1
MPRSQRFGAGVRSCNRKPSVLQASRRAPATRPRTLPGAFPRHLRGPYLEIPGAPLPAPAMPLNRTLSMSSLPGLEDWEDEFDLENAVLFE
VAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKFLAQSEEKPHVVAHFHEWLAG
VGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENVVYIACSFTTVWLIYSKFKATYDGNHDTFRVEFLVVPTAILAFLVNHDF
TPLEILWTFSIYLESVAILPQLFMVSKTGEAETITSHYLFALGVYRTLYLFNWIWRYHFEGFFDLIAIVAGLVQTVLYCDFFYLYITKVL

--------------------------------------------------------------
>35432_35432_3_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000323798_KDELR1_chr19_48892968_ENST00000330720_length(transcript)=2045nt_BP=875nt
AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT
CCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCCC
CCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTGG
AGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGTGGGTGGCATCTACACGGTGCTGCAGACGAAGGCGAAGGTGACAG
GGGACGAATGGGGCGACAACTACTTCCTGGTGGGGCCGTACACGGAGCAGGGCGTGAGGACCCAGGTGGAACTGCTGGAGGCCCCCACCC
CGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAGGTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGG
TGCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACG
ACCGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGGTTCCTGGGTGAGTTCCTGGCACAGAGTGAGGAGAAGCCACATG
TGGTTGCTCACTTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCC
ATGCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACGTGGTCTACATAGCCTGCTCCTTCA
CCACGGTCTGGTTGATTTATAGCAAGTTCAAAGCTACTTACGATGGGAACCATGACACGTTCAGAGTGGAGTTCCTGGTCGTTCCCACAG
CCATTCTGGCGTTCCTGGTCAATCATGACTTCACCCCTCTGGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCAGTGGCCATCTTGC
CGCAGCTGTTCATGGTGAGCAAGACCGGCGAGGCGGAGACCATCACCAGCCACTACTTGTTTGCGCTAGGCGTTTACCGCACGCTCTATC
TCTTCAACTGGATCTGGCGCTACCATTTCGAGGGCTTCTTCGACCTCATCGCCATTGTGGCAGGCCTGGTCCAGACAGTCCTCTACTGCG
ATTTCTTCTACCTCTATATCACCAAAGTCCTAAAGGGGAAGAAGTTGAGTTTGCCGGCATAGCCCCGGTCCTCTCCATCTCTCTCCTCGG
CAGCAGCGGGAGGCAGAGGAAGGCGGCAGAAGATGAAGAGCTTTCCCATCCAGGGGTGACTTTTTTAAGAACCCACCTCTTGTGCTCCCC
ATCCCGCCTCCTGCCGGGTTTCAGGGGGACAGTGGAGGATCCAGGTCTTGGGGAGCTCAGGACTTGGGCTGTTTGTAGTTTTTTGCCTTT
TAGACAAGAAAAAAAAATCTTTCCACTCTTTAGTTTTTGATTCTGATGACTCGTTTTTCTTCTACTCTGTGGCCCCAATTTTTATAAAGT
GTTTTTGAGTGTCCTATGGGCCGGGGCAGGGTCCAAGATCTTTTCCCTTCCCCAGGCCCCTCGGCTCCCTCCCAGATCCCACCCCCAGCC
CCACTGGTTGCCAAACACTAAATCTGCCGACACCCATCTGCCCCACCTCCTGCCATGGCCATGAACCGCGACCCCCACTAAATTTCTAGA
TTGGGGATAGGGAGAAAGGGAGGCCCAGGAAGGTCTCCCCTGATTTTTTTTCATAGTAATTTTTTTCCCCAGAGTTTGAATTTTTTGGTC
TTCTCCTGGTTTTTTGGCAAATTAGGGGGGCCCGGGGCTCAAGTGCGGGAAGGGGGCTGGCCCGAGGATCCCATGGCTCTCACACCATGT

>35432_35432_3_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000323798_KDELR1_chr19_48892968_ENST00000330720_length(amino acids)=433AA_BP=1
MPRSQRFGAGVRSCNRKPSVLQASRRAPATRPRTLPGAFPRHLRGPYLEIPGAPLPAPAMPLNRTLSMSSLPGLEDWEDEFDLENAVLFE
VAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGA
SAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGR
YLCAGAVDFYNNLENVVYIACSFTTVWLIYSKFKATYDGNHDTFRVEFLVVPTAILAFLVNHDFTPLEILWTFSIYLESVAILPQLFMVS

--------------------------------------------------------------
>35432_35432_4_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000323798_KDELR1_chr19_48892968_ENST00000597017_length(transcript)=2037nt_BP=875nt
AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT
CCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCCC
CCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTGG
AGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGTGGGTGGCATCTACACGGTGCTGCAGACGAAGGCGAAGGTGACAG
GGGACGAATGGGGCGACAACTACTTCCTGGTGGGGCCGTACACGGAGCAGGGCGTGAGGACCCAGGTGGAACTGCTGGAGGCCCCCACCC
CGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAGGTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGG
TGCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACG
ACCGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGGTTCCTGGGTGAGTTCCTGGCACAGAGTGAGGAGAAGCCACATG
TGGTTGCTCACTTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCC
ATGCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACGTGGTCTACATAGCCTGCTCCTTCA
CCACGGTCTGGTTGATTTATAGCAAGTTCAAAGCTACTTACGATGGGAACCATGACACGTTCAGAGTGGAGTTCCTGGTCGTTCCCACAG
CCATTCTGGCGTTCCTGGTCAATCATGACTTCACCCCTCTGGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCAGTGGCCATCTTGC
CGCAGCTGTTCATGGTGAGCAAGACCGGCGAGGCGGAGACCATCACCAGCCACTACTTGTTTGCGCTAGGCGTTTACCGCACGCTCTATC
TCTTCAACTGGATCTGGCGCTACCATTTCGAGGGCTTCTTCGACCTCATCGCCATTGTGGCAGGCCTGGTCCAGACAGTCCTCTACTGCG
ATTTCTTCTACCTCTATATCACCAAAGTCCTAAAGGGGAAGAAGTTGAGTTTGCCGGCATAGCCCCGGTCCTCTCCATCTCTCTCCTCGG
CAGCAGCGGGAGGCAGAGGAAGGCGGCAGAAGATGAAGAGCTTTCCCATCCAGGGGTGACTTTTTTAAGAACCCACCTCTTGTGCTCCCC
ATCCCGCCTCCTGCCGGGTTTCAGGGGGACAGTGGAGGATCCAGGTCTTGGGGAGCTCAGGACTTGGGCTGTTTGTAGTTTTTTGCCTTT
TAGACAAGAAAAAAAAATCTTTCCACTCTTTAGTTTTTGATTCTGATGACTCGTTTTTCTTCTACTCTGTGGCCCCAATTTTTATAAAGT
GTTTTTGAGTGTCCTATGGGCCGGGGCAGGGTCCAAGATCTTTTCCCTTCCCCAGGCCCCTCGGCTCCCTCCCAGATCCCACCCCCAGCC
CCACTGGTTGCCAAACACTAAATCTGCCGACACCCATCTGCCCCACCTCCTGCCATGGCCATGAACCGCGACCCCCACTAAATTTCTAGA
TTGGGGATAGGGAGAAAGGGAGGCCCAGGAAGGTCTCCCCTGATTTTTTTTCATAGTAATTTTTTTCCCCAGAGTTTGAATTTTTTGGTC
TTCTCCTGGTTTTTTGGCAAATTAGGGGGGCCCGGGGCTCAAGTGCGGGAAGGGGGCTGGCCCGAGGATCCCATGGCTCTCACACCATGT

>35432_35432_4_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000323798_KDELR1_chr19_48892968_ENST00000597017_length(amino acids)=433AA_BP=1
MPRSQRFGAGVRSCNRKPSVLQASRRAPATRPRTLPGAFPRHLRGPYLEIPGAPLPAPAMPLNRTLSMSSLPGLEDWEDEFDLENAVLFE
VAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGA
SAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGR
YLCAGAVDFYNNLENVVYIACSFTTVWLIYSKFKATYDGNHDTFRVEFLVVPTAILAFLVNHDFTPLEILWTFSIYLESVAILPQLFMVS

--------------------------------------------------------------
>35432_35432_5_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000540532_KDELR1_chr19_48892968_ENST00000330720_length(transcript)=1863nt_BP=693nt
AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT
CCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCCC
CCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTGG
AGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGGTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGGTG
CTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACGAC
CGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGGTTCCTGGGTGAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTG
GTTGCTCACTTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCCAT
GCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACGTGGTCTACATAGCCTGCTCCTTCACC
ACGGTCTGGTTGATTTATAGCAAGTTCAAAGCTACTTACGATGGGAACCATGACACGTTCAGAGTGGAGTTCCTGGTCGTTCCCACAGCC
ATTCTGGCGTTCCTGGTCAATCATGACTTCACCCCTCTGGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCAGTGGCCATCTTGCCG
CAGCTGTTCATGGTGAGCAAGACCGGCGAGGCGGAGACCATCACCAGCCACTACTTGTTTGCGCTAGGCGTTTACCGCACGCTCTATCTC
TTCAACTGGATCTGGCGCTACCATTTCGAGGGCTTCTTCGACCTCATCGCCATTGTGGCAGGCCTGGTCCAGACAGTCCTCTACTGCGAT
TTCTTCTACCTCTATATCACCAAAGTCCTAAAGGGGAAGAAGTTGAGTTTGCCGGCATAGCCCCGGTCCTCTCCATCTCTCTCCTCGGCA
GCAGCGGGAGGCAGAGGAAGGCGGCAGAAGATGAAGAGCTTTCCCATCCAGGGGTGACTTTTTTAAGAACCCACCTCTTGTGCTCCCCAT
CCCGCCTCCTGCCGGGTTTCAGGGGGACAGTGGAGGATCCAGGTCTTGGGGAGCTCAGGACTTGGGCTGTTTGTAGTTTTTTGCCTTTTA
GACAAGAAAAAAAAATCTTTCCACTCTTTAGTTTTTGATTCTGATGACTCGTTTTTCTTCTACTCTGTGGCCCCAATTTTTATAAAGTGT
TTTTGAGTGTCCTATGGGCCGGGGCAGGGTCCAAGATCTTTTCCCTTCCCCAGGCCCCTCGGCTCCCTCCCAGATCCCACCCCCAGCCCC
ACTGGTTGCCAAACACTAAATCTGCCGACACCCATCTGCCCCACCTCCTGCCATGGCCATGAACCGCGACCCCCACTAAATTTCTAGATT
GGGGATAGGGAGAAAGGGAGGCCCAGGAAGGTCTCCCCTGATTTTTTTTCATAGTAATTTTTTTCCCCAGAGTTTGAATTTTTTGGTCTT
CTCCTGGTTTTTTGGCAAATTAGGGGGGCCCGGGGCTCAAGTGCGGGAAGGGGGCTGGCCCGAGGATCCCATGGCTCTCACACCATGTTT

>35432_35432_5_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000540532_KDELR1_chr19_48892968_ENST00000330720_length(amino acids)=294AA_BP=0
MNSTWRTQCSSKWPGRWLTRVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSE
EKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENVVYIACSFTTVWLIYSKFKATYDGNHDTFRVEFL
VVPTAILAFLVNHDFTPLEILWTFSIYLESVAILPQLFMVSKTGEAETITSHYLFALGVYRTLYLFNWIWRYHFEGFFDLIAIVAGLVQT

--------------------------------------------------------------
>35432_35432_6_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000540532_KDELR1_chr19_48892968_ENST00000597017_length(transcript)=1855nt_BP=693nt
AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT
CCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCCC
CCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTGG
AGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGGTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGGTG
CTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACGAC
CGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGGTTCCTGGGTGAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTG
GTTGCTCACTTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCCAT
GCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACGTGGTCTACATAGCCTGCTCCTTCACC
ACGGTCTGGTTGATTTATAGCAAGTTCAAAGCTACTTACGATGGGAACCATGACACGTTCAGAGTGGAGTTCCTGGTCGTTCCCACAGCC
ATTCTGGCGTTCCTGGTCAATCATGACTTCACCCCTCTGGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCAGTGGCCATCTTGCCG
CAGCTGTTCATGGTGAGCAAGACCGGCGAGGCGGAGACCATCACCAGCCACTACTTGTTTGCGCTAGGCGTTTACCGCACGCTCTATCTC
TTCAACTGGATCTGGCGCTACCATTTCGAGGGCTTCTTCGACCTCATCGCCATTGTGGCAGGCCTGGTCCAGACAGTCCTCTACTGCGAT
TTCTTCTACCTCTATATCACCAAAGTCCTAAAGGGGAAGAAGTTGAGTTTGCCGGCATAGCCCCGGTCCTCTCCATCTCTCTCCTCGGCA
GCAGCGGGAGGCAGAGGAAGGCGGCAGAAGATGAAGAGCTTTCCCATCCAGGGGTGACTTTTTTAAGAACCCACCTCTTGTGCTCCCCAT
CCCGCCTCCTGCCGGGTTTCAGGGGGACAGTGGAGGATCCAGGTCTTGGGGAGCTCAGGACTTGGGCTGTTTGTAGTTTTTTGCCTTTTA
GACAAGAAAAAAAAATCTTTCCACTCTTTAGTTTTTGATTCTGATGACTCGTTTTTCTTCTACTCTGTGGCCCCAATTTTTATAAAGTGT
TTTTGAGTGTCCTATGGGCCGGGGCAGGGTCCAAGATCTTTTCCCTTCCCCAGGCCCCTCGGCTCCCTCCCAGATCCCACCCCCAGCCCC
ACTGGTTGCCAAACACTAAATCTGCCGACACCCATCTGCCCCACCTCCTGCCATGGCCATGAACCGCGACCCCCACTAAATTTCTAGATT
GGGGATAGGGAGAAAGGGAGGCCCAGGAAGGTCTCCCCTGATTTTTTTTCATAGTAATTTTTTTCCCCAGAGTTTGAATTTTTTGGTCTT
CTCCTGGTTTTTTGGCAAATTAGGGGGGCCCGGGGCTCAAGTGCGGGAAGGGGGCTGGCCCGAGGATCCCATGGCTCTCACACCATGTTT

>35432_35432_6_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000540532_KDELR1_chr19_48892968_ENST00000597017_length(amino acids)=294AA_BP=0
MNSTWRTQCSSKWPGRWLTRVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSE
EKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENVVYIACSFTTVWLIYSKFKATYDGNHDTFRVEFL
VVPTAILAFLVNHDFTPLEILWTFSIYLESVAILPQLFMVSKTGEAETITSHYLFALGVYRTLYLFNWIWRYHFEGFFDLIAIVAGLVQT

--------------------------------------------------------------
>35432_35432_7_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000541188_KDELR1_chr19_48892968_ENST00000330720_length(transcript)=1863nt_BP=693nt
AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT
CCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCCC
CCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTGG
AGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGGTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGGTG
CTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACGAC
CGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGGTTCCTGGGTGAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTG
GTTGCTCACTTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCCAT
GCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACGTGGTCTACATAGCCTGCTCCTTCACC
ACGGTCTGGTTGATTTATAGCAAGTTCAAAGCTACTTACGATGGGAACCATGACACGTTCAGAGTGGAGTTCCTGGTCGTTCCCACAGCC
ATTCTGGCGTTCCTGGTCAATCATGACTTCACCCCTCTGGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCAGTGGCCATCTTGCCG
CAGCTGTTCATGGTGAGCAAGACCGGCGAGGCGGAGACCATCACCAGCCACTACTTGTTTGCGCTAGGCGTTTACCGCACGCTCTATCTC
TTCAACTGGATCTGGCGCTACCATTTCGAGGGCTTCTTCGACCTCATCGCCATTGTGGCAGGCCTGGTCCAGACAGTCCTCTACTGCGAT
TTCTTCTACCTCTATATCACCAAAGTCCTAAAGGGGAAGAAGTTGAGTTTGCCGGCATAGCCCCGGTCCTCTCCATCTCTCTCCTCGGCA
GCAGCGGGAGGCAGAGGAAGGCGGCAGAAGATGAAGAGCTTTCCCATCCAGGGGTGACTTTTTTAAGAACCCACCTCTTGTGCTCCCCAT
CCCGCCTCCTGCCGGGTTTCAGGGGGACAGTGGAGGATCCAGGTCTTGGGGAGCTCAGGACTTGGGCTGTTTGTAGTTTTTTGCCTTTTA
GACAAGAAAAAAAAATCTTTCCACTCTTTAGTTTTTGATTCTGATGACTCGTTTTTCTTCTACTCTGTGGCCCCAATTTTTATAAAGTGT
TTTTGAGTGTCCTATGGGCCGGGGCAGGGTCCAAGATCTTTTCCCTTCCCCAGGCCCCTCGGCTCCCTCCCAGATCCCACCCCCAGCCCC
ACTGGTTGCCAAACACTAAATCTGCCGACACCCATCTGCCCCACCTCCTGCCATGGCCATGAACCGCGACCCCCACTAAATTTCTAGATT
GGGGATAGGGAGAAAGGGAGGCCCAGGAAGGTCTCCCCTGATTTTTTTTCATAGTAATTTTTTTCCCCAGAGTTTGAATTTTTTGGTCTT
CTCCTGGTTTTTTGGCAAATTAGGGGGGCCCGGGGCTCAAGTGCGGGAAGGGGGCTGGCCCGAGGATCCCATGGCTCTCACACCATGTTT

>35432_35432_7_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000541188_KDELR1_chr19_48892968_ENST00000330720_length(amino acids)=294AA_BP=0
MNSTWRTQCSSKWPGRWLTRVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSE
EKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENVVYIACSFTTVWLIYSKFKATYDGNHDTFRVEFL
VVPTAILAFLVNHDFTPLEILWTFSIYLESVAILPQLFMVSKTGEAETITSHYLFALGVYRTLYLFNWIWRYHFEGFFDLIAIVAGLVQT

--------------------------------------------------------------
>35432_35432_8_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000541188_KDELR1_chr19_48892968_ENST00000597017_length(transcript)=1855nt_BP=693nt
AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT
CCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCCC
CCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTGG
AGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGGTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGGTG
CTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACGAC
CGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGGTTCCTGGGTGAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTG
GTTGCTCACTTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCCAT
GCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACGTGGTCTACATAGCCTGCTCCTTCACC
ACGGTCTGGTTGATTTATAGCAAGTTCAAAGCTACTTACGATGGGAACCATGACACGTTCAGAGTGGAGTTCCTGGTCGTTCCCACAGCC
ATTCTGGCGTTCCTGGTCAATCATGACTTCACCCCTCTGGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCAGTGGCCATCTTGCCG
CAGCTGTTCATGGTGAGCAAGACCGGCGAGGCGGAGACCATCACCAGCCACTACTTGTTTGCGCTAGGCGTTTACCGCACGCTCTATCTC
TTCAACTGGATCTGGCGCTACCATTTCGAGGGCTTCTTCGACCTCATCGCCATTGTGGCAGGCCTGGTCCAGACAGTCCTCTACTGCGAT
TTCTTCTACCTCTATATCACCAAAGTCCTAAAGGGGAAGAAGTTGAGTTTGCCGGCATAGCCCCGGTCCTCTCCATCTCTCTCCTCGGCA
GCAGCGGGAGGCAGAGGAAGGCGGCAGAAGATGAAGAGCTTTCCCATCCAGGGGTGACTTTTTTAAGAACCCACCTCTTGTGCTCCCCAT
CCCGCCTCCTGCCGGGTTTCAGGGGGACAGTGGAGGATCCAGGTCTTGGGGAGCTCAGGACTTGGGCTGTTTGTAGTTTTTTGCCTTTTA
GACAAGAAAAAAAAATCTTTCCACTCTTTAGTTTTTGATTCTGATGACTCGTTTTTCTTCTACTCTGTGGCCCCAATTTTTATAAAGTGT
TTTTGAGTGTCCTATGGGCCGGGGCAGGGTCCAAGATCTTTTCCCTTCCCCAGGCCCCTCGGCTCCCTCCCAGATCCCACCCCCAGCCCC
ACTGGTTGCCAAACACTAAATCTGCCGACACCCATCTGCCCCACCTCCTGCCATGGCCATGAACCGCGACCCCCACTAAATTTCTAGATT
GGGGATAGGGAGAAAGGGAGGCCCAGGAAGGTCTCCCCTGATTTTTTTTCATAGTAATTTTTTTCCCCAGAGTTTGAATTTTTTGGTCTT
CTCCTGGTTTTTTGGCAAATTAGGGGGGCCCGGGGCTCAAGTGCGGGAAGGGGGCTGGCCCGAGGATCCCATGGCTCTCACACCATGTTT

>35432_35432_8_GYS1-KDELR1_GYS1_chr19_49489107_ENST00000541188_KDELR1_chr19_48892968_ENST00000597017_length(amino acids)=294AA_BP=0
MNSTWRTQCSSKWPGRWLTRVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSE
EKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENVVYIACSFTTVWLIYSKFKATYDGNHDTFRVEFL
VVPTAILAFLVNHDFTPLEILWTFSIYLESVAILPQLFMVSKTGEAETITSHYLFALGVYRTLYLFNWIWRYHFEGFFDLIAIVAGLVQT

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

Top

Fusion Gene PPI Analysis for GYS1-KDELR1

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Still interaction with
Tgene	KDELR1	chr19:49489107	chr19:48892968	ENST00000330720		1	5	159_169	64.0	213.0	the K-D-E-L motif on target proteins

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Tgene	KDELR1	chr19:49489107	chr19:48892968	ENST00000330720		1	5	47_48	64.0	213.0	the K-D-E-L motif on target proteins

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs for GYS1-KDELR1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for GYS1-KDELR1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source