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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-POLG2 (FusionGDB2 ID:35305) |
Fusion Gene Summary for GYS1-POLG2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: GYS1-POLG2 | Fusion gene ID: 35305 | Hgene | Tgene | Gene symbol | GYS1 | POLG2 | Gene ID | 2997 | 11232 |
Gene name | glycogen synthase 1 | DNA polymerase gamma 2, accessory subunit | |
Synonyms | GSY|GYS | HP55|MTDPS16|MTPOLB|PEOA4|POLB|POLG-BETA|POLGB | |
Cytomap | 19q13.33 | 17q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | glycogen [starch] synthase, muscleglycogen synthase 1 (muscle) | DNA polymerase subunit gamma-2, mitochondrialDNA polymerase gamma accessory 55 kDa subunitmitochondrial DNA polymerase subunit gamma-2mitochondrial DNA polymerase, accessory subunitp55polymerase (DNA directed), gamma 2, accessory subunitpolymerase ( | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | P13807 | . | |
Ensembl transtripts involved in fusion gene | ENST00000323798, ENST00000263276, ENST00000541188, ENST00000544287, ENST00000540532, ENST00000457974, | ENST00000539111, ENST00000582501, | |
Fusion gene scores | * DoF score | 9 X 10 X 7=630 | 3 X 3 X 3=27 |
# samples | 10 | 3 | |
** MAII score | log2(10/630*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: GYS1 [Title/Abstract] AND POLG2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | GYS1(49473802)-POLG2(62476506), # 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 | POLG2 | GO:0006261 | DNA-dependent DNA replication | 10608893|15167897|19837034|19858216|26123486|26446790|28430993 |
Tgene | POLG2 | GO:1900264 | positive regulation of DNA-directed DNA polymerase activity | 10608893|19837034|19858216|26123486 |
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 POLG2 (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 | Non-Cancer | TCGA-77-8007-11A | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
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Fusion Gene ORF analysis for GYS1-POLG2 |
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 | ENST00000323798 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
5CDS-5UTR | ENST00000323798 | ENST00000582501 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
In-frame | ENST00000263276 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
5CDS-5UTR | ENST00000263276 | ENST00000582501 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
In-frame | ENST00000541188 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
5CDS-5UTR | ENST00000541188 | ENST00000582501 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
In-frame | ENST00000544287 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
5CDS-5UTR | ENST00000544287 | ENST00000582501 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
intron-3CDS | ENST00000540532 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
intron-5UTR | ENST00000540532 | ENST00000582501 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
intron-3CDS | ENST00000457974 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
intron-5UTR | ENST00000457974 | ENST00000582501 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - |
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 | 49473802 | - | ENST00000539111 | POLG2 | chr17 | 62476506 | - | 2311 | 2006 | 20 | 2272 | 750 |
ENST00000263276 | GYS1 | chr19 | 49473802 | - | ENST00000539111 | POLG2 | chr17 | 62476506 | - | 2120 | 1815 | 21 | 2081 | 686 |
ENST00000541188 | GYS1 | chr19 | 49473802 | - | ENST00000539111 | POLG2 | chr17 | 62476506 | - | 2129 | 1824 | 255 | 2090 | 611 |
ENST00000544287 | GYS1 | chr19 | 49473802 | - | ENST00000539111 | POLG2 | chr17 | 62476506 | - | 1271 | 966 | 102 | 1232 | 376 |
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 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - | 0.002935948 | 0.99706405 |
ENST00000263276 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - | 0.003532442 | 0.9964676 |
ENST00000541188 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - | 0.006995669 | 0.9930044 |
ENST00000544287 | ENST00000539111 | GYS1 | chr19 | 49473802 | - | POLG2 | chr17 | 62476506 | - | 0.003559308 | 0.9964407 |
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Fusion Genomic Features for GYS1-POLG2 |
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-POLG2 |
Go to FGviewer for the breakpoints of chr19:49473802-chr17:62476506 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GYS1 | . |
FUNCTION: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan. | 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 * 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 |
- 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 |
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Fusion Gene Sequence for GYS1-POLG2 |
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. |
>In-frame_ENST00000323798_ENST00000539111_TCGA-77-8007-11A_GYS1_chr19_49473802_-_POLG2_chr17_62476506_length(transcript)=2311nt_BP=2006nt AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT CCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCCC CCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTGG AGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGTGGGTGGCATCTACACGGTGCTGCAGACGAAGGCGAAGGTGACAG GGGACGAATGGGGCGACAACTACTTCCTGGTGGGGCCGTACACGGAGCAGGGCGTGAGGACCCAGGTGGAACTGCTGGAGGCCCCCACCC CGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAGGTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGG TGCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACG ACCGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGGTTCCTGGGTGAGTTCCTGGCACAGAGTGAGGAGAAGCCACATG TGGTTGCTCACTTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCC ATGCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACTTCAACGTGGACAAGGAAGCAGGGG AGAGGCAGATCTACCACCGATACTGCATGGAAAGGGCGGCAGCCCACTGCGCTCACGTCTTCACTACTGTGTCCCAGATCACCGCCATCG AGGCACAGCACTTGCTCAAGAGGAAACCAGATATTGTGACCCCCAATGGGCTGAATGTGAAGAAGTTTTCTGCCATGCATGAGTTCCAGA ACCTCCATGCTCAGAGCAAGGCTCGAATCCAGGAGTTTGTGCGGGGCCATTTTTATGGGCATCTGGACTTCAACTTGGACAAGACCTTAT ACTTCTTTATCGCCGGCCGCTATGAGTTCTCCAACAAGGGTGCTGACGTCTTCCTGGAGGCATTGGCTCGGCTCAACTATCTGCTCAGAG TGAACGGCAGCGAGCAGACAGTGGTTGCCTTCTTCATCATGCCAGCGCGGACCAACAATTTCAACGTGGAAACCCTCAAAGGCCAAGCTG TGCGCAAACAGCTTTGGGACACGGCCAACACGGTGAAGGAAAAGTTCGGGAGGAAGCTTTATGAATCCTTACTGGTTGGGAGCCTTCCCG ACATGAACAAGATGCTGGATAAGGAAGACTTCACTATGATGAAGAGAGCCATCTTTGCAACGCAGCGGCAGTCTTTCCCCCCTGTGTGCA CCCACAATATGCTGGATGACTCCTCAGACCCCATCCTGACCACCATCCGCCGAATCGGCCTCTTCAATAGCAGTGCCGACAGGGTGAAGG TGATTTTCCACCCGGAGTTCCTCTCCTCCACAAGCCCCCTGCTCCCTGTGGACTATGAGGAGTTTGTCCGTGGCTGTCACCTTGGAGTCT TCCCCTCCTACTATGAGCCTTGGGGCTACACACCGGCTGAGTGCACGGTTATGGGAATCCCCAGTATCTCCACCAATCTCTCCGGCTTCG GCTGCTTCATGGAGGAACACATCGCAGACCCCTCAGCTTACGGTATCTACATTCTTGACCGGCGGTTCCGCAGCCTGGATGATTCCTGCT CGCAGCTCACCTCCTTCCTCTACAGTTTCTGTCAGCAGAGCCGGCGGCAGCGTATCATCCAGCGGAACCGCACGGAGCGCCTCTCCGACC TTCTGGACTGGAAATACCTAGGCCGGGTTTGTCAAGGGCTATTTAATGAGTTACTAGAAAATGGGATTTCTGTGTGGCCTGGTTATTTGG AAACTATGCAGTCCTCATTGGAACAACTTTATTCGAAGTATGATGAAATGAGTATTCTCTTCACAGTTTTGGTTACTGAAACTACTTTGG AGAATGGATTAATACATCTGAGAAGCAGAGACACCACAATGAAGGAAATGATGCATATATCCAAATTAAAAGACTTTTTGATTAAGTATA >In-frame_ENST00000323798_ENST00000539111_TCGA-77-8007-11A_GYS1_chr19_49473802_-_POLG2_chr17_62476506_length(amino acids)=750AA_start in transcript=20_stop in transcript=2272 MPRSQRFGAGVRSCNRKPSVLQASRRAPATRPRTLPGAFPRHLRGPYLEIPGAPLPAPAMPLNRTLSMSSLPGLEDWEDEFDLENAVLFE VAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGA SAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGR YLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSK ARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWD TANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEF LSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFL YSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRVCQGLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHL -------------------------------------------------------------- >In-frame_ENST00000263276_ENST00000539111_TCGA-77-8007-11A_GYS1_chr19_49473802_-_POLG2_chr17_62476506_length(transcript)=2120nt_BP=1815nt CAGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCT TCCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCC CCCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTG GAGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGTGGGTGGCATCTACACGGTGCTGCAGACGAAGGCGAAGGTGACA GGGGACGAATGGGGCGACAACTACTTCCTGGTGGGGCCGTACACGGAGCAGGGCGTGAGGACCCAGGTGGAACTGCTGGAGGCCCCCACC CCGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTGGTTGCTCAC TTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCCATGCCACGCTG CTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACTTCAACGTGGACAAGGAAGCAGGGGAGAGGCAGATC TACCACCGATACTGCATGGAAAGGGCGGCAGCCCACTGCGCTCACGTCTTCACTACTGTGTCCCAGATCACCGCCATCGAGGCACAGCAC TTGCTCAAGAGGAAACCAGATATTGTGACCCCCAATGGGCTGAATGTGAAGAAGTTTTCTGCCATGCATGAGTTCCAGAACCTCCATGCT CAGAGCAAGGCTCGAATCCAGGAGTTTGTGCGGGGCCATTTTTATGGGCATCTGGACTTCAACTTGGACAAGACCTTATACTTCTTTATC GCCGGCCGCTATGAGTTCTCCAACAAGGGTGCTGACGTCTTCCTGGAGGCATTGGCTCGGCTCAACTATCTGCTCAGAGTGAACGGCAGC GAGCAGACAGTGGTTGCCTTCTTCATCATGCCAGCGCGGACCAACAATTTCAACGTGGAAACCCTCAAAGGCCAAGCTGTGCGCAAACAG CTTTGGGACACGGCCAACACGGTGAAGGAAAAGTTCGGGAGGAAGCTTTATGAATCCTTACTGGTTGGGAGCCTTCCCGACATGAACAAG ATGCTGGATAAGGAAGACTTCACTATGATGAAGAGAGCCATCTTTGCAACGCAGCGGCAGTCTTTCCCCCCTGTGTGCACCCACAATATG CTGGATGACTCCTCAGACCCCATCCTGACCACCATCCGCCGAATCGGCCTCTTCAATAGCAGTGCCGACAGGGTGAAGGTGATTTTCCAC CCGGAGTTCCTCTCCTCCACAAGCCCCCTGCTCCCTGTGGACTATGAGGAGTTTGTCCGTGGCTGTCACCTTGGAGTCTTCCCCTCCTAC TATGAGCCTTGGGGCTACACACCGGCTGAGTGCACGGTTATGGGAATCCCCAGTATCTCCACCAATCTCTCCGGCTTCGGCTGCTTCATG GAGGAACACATCGCAGACCCCTCAGCTTACGGTATCTACATTCTTGACCGGCGGTTCCGCAGCCTGGATGATTCCTGCTCGCAGCTCACC TCCTTCCTCTACAGTTTCTGTCAGCAGAGCCGGCGGCAGCGTATCATCCAGCGGAACCGCACGGAGCGCCTCTCCGACCTTCTGGACTGG AAATACCTAGGCCGGGTTTGTCAAGGGCTATTTAATGAGTTACTAGAAAATGGGATTTCTGTGTGGCCTGGTTATTTGGAAACTATGCAG TCCTCATTGGAACAACTTTATTCGAAGTATGATGAAATGAGTATTCTCTTCACAGTTTTGGTTACTGAAACTACTTTGGAGAATGGATTA ATACATCTGAGAAGCAGAGACACCACAATGAAGGAAATGATGCATATATCCAAATTAAAAGACTTTTTGATTAAGTATATATCATCAGCT >In-frame_ENST00000263276_ENST00000539111_TCGA-77-8007-11A_GYS1_chr19_49473802_-_POLG2_chr17_62476506_length(amino acids)=686AA_start in transcript=21_stop in transcript=2081 MPRSQRFGAGVRSCNRKPSVLQASRRAPATRPRTLPGAFPRHLRGPYLEIPGAPLPAPAMPLNRTLSMSSLPGLEDWEDEFDLENAVLFE VAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKFLAQSEEKPHVVAHFHEWLAG VGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPD IVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAF FIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDP ILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADP SAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRVCQGLFNELLENGISVWPGYLETMQSSLEQLY -------------------------------------------------------------- >In-frame_ENST00000541188_ENST00000539111_TCGA-77-8007-11A_GYS1_chr19_49473802_-_POLG2_chr17_62476506_length(transcript)=2129nt_BP=1824nt AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT CCCGTCGGGCACCAGCTACTCGGCCCCGCACCCTACCTGGTGCATTCCCTAGACACCTCCGGGGTCCCTACCTGGAGATCCCCGGAGCCC CCCTTCCTGCGCCAGCCATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGATGAATTCGACCTGG AGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGGGTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGGTG CTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACGAC CGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGGTTCCTGGGTGAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTG GTTGCTCACTTCCATGAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACCATCTTCACCACCCAT GCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTCTACAACAACCTGGAGAACTTCAACGTGGACAAGGAAGCAGGGGAG AGGCAGATCTACCACCGATACTGCATGGAAAGGGCGGCAGCCCACTGCGCTCACGTCTTCACTACTGTGTCCCAGATCACCGCCATCGAG GCACAGCACTTGCTCAAGAGGAAACCAGATATTGTGACCCCCAATGGGCTGAATGTGAAGAAGTTTTCTGCCATGCATGAGTTCCAGAAC CTCCATGCTCAGAGCAAGGCTCGAATCCAGGAGTTTGTGCGGGGCCATTTTTATGGGCATCTGGACTTCAACTTGGACAAGACCTTATAC TTCTTTATCGCCGGCCGCTATGAGTTCTCCAACAAGGGTGCTGACGTCTTCCTGGAGGCATTGGCTCGGCTCAACTATCTGCTCAGAGTG AACGGCAGCGAGCAGACAGTGGTTGCCTTCTTCATCATGCCAGCGCGGACCAACAATTTCAACGTGGAAACCCTCAAAGGCCAAGCTGTG CGCAAACAGCTTTGGGACACGGCCAACACGGTGAAGGAAAAGTTCGGGAGGAAGCTTTATGAATCCTTACTGGTTGGGAGCCTTCCCGAC ATGAACAAGATGCTGGATAAGGAAGACTTCACTATGATGAAGAGAGCCATCTTTGCAACGCAGCGGCAGTCTTTCCCCCCTGTGTGCACC CACAATATGCTGGATGACTCCTCAGACCCCATCCTGACCACCATCCGCCGAATCGGCCTCTTCAATAGCAGTGCCGACAGGGTGAAGGTG ATTTTCCACCCGGAGTTCCTCTCCTCCACAAGCCCCCTGCTCCCTGTGGACTATGAGGAGTTTGTCCGTGGCTGTCACCTTGGAGTCTTC CCCTCCTACTATGAGCCTTGGGGCTACACACCGGCTGAGTGCACGGTTATGGGAATCCCCAGTATCTCCACCAATCTCTCCGGCTTCGGC TGCTTCATGGAGGAACACATCGCAGACCCCTCAGCTTACGGTATCTACATTCTTGACCGGCGGTTCCGCAGCCTGGATGATTCCTGCTCG CAGCTCACCTCCTTCCTCTACAGTTTCTGTCAGCAGAGCCGGCGGCAGCGTATCATCCAGCGGAACCGCACGGAGCGCCTCTCCGACCTT CTGGACTGGAAATACCTAGGCCGGGTTTGTCAAGGGCTATTTAATGAGTTACTAGAAAATGGGATTTCTGTGTGGCCTGGTTATTTGGAA ACTATGCAGTCCTCATTGGAACAACTTTATTCGAAGTATGATGAAATGAGTATTCTCTTCACAGTTTTGGTTACTGAAACTACTTTGGAG AATGGATTAATACATCTGAGAAGCAGAGACACCACAATGAAGGAAATGATGCATATATCCAAATTAAAAGACTTTTTGATTAAGTATATA >In-frame_ENST00000541188_ENST00000539111_TCGA-77-8007-11A_GYS1_chr19_49473802_-_POLG2_chr17_62476506_length(amino acids)=611AA_start in transcript=255_stop in transcript=2090 MNSTWRTQCSSKWPGRWLTRVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSE EKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQ ITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLN YLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSF PPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTN LSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRVCQGLFNELLENGISVW -------------------------------------------------------------- >In-frame_ENST00000544287_ENST00000539111_TCGA-77-8007-11A_GYS1_chr19_49473802_-_POLG2_chr17_62476506_length(transcript)=1271nt_BP=966nt AGTGACGCTGCGGCCTCCTTCTGCCTAGGTCCCAACGCTTCGGGGCAGGGGTGCGGTCTTGCAATAGGAAGCCGAGCGTCTTGCAAGCTT CCCGTCGGGCATCTGGACTTCAACTTGGACAAGACCTTATACTTCTTTATCGCCGGCCGCTATGAGTTCTCCAACAAGGGTGCTGACGTC TTCCTGGAGGCATTGGCTCGGCTCAACTATCTGCTCAGAGTGAACGGCAGCGAGCAGACAGTGGTTGCCTTCTTCATCATGCCAGCGCGG ACCAACAATTTCAACGTGGAAACCCTCAAAGGCCAAGCTGTGCGCAAACAGCTTTGGGACACGGCCAACACGGTGAAGGAAAAGTTCGGG AGGAAGCTTTATGAATCCTTACTGGTTGGGAGCCTTCCCGACATGAACAAGATGCTGGATAAGGAAGACTTCACTATGATGAAGAGAGCC ATCTTTGCAACGCAGCGGCAGTCTTTCCCCCCTGTGTGCACCCACAATATGCTGGATGACTCCTCAGACCCCATCCTGACCACCATCCGC CGAATCGGCCTCTTCAATAGCAGTGCCGACAGGGTGAAGGTGATTTTCCACCCGGAGTTCCTCTCCTCCACAAGCCCCCTGCTCCCTGTG GACTATGAGGAGTTTGTCCGTGGCTGTCACCTTGGAGTCTTCCCCTCCTACTATGAGCCTTGGGGCTACACACCGGCTGAGTGCACGGTT ATGGGAATCCCCAGTATCTCCACCAATCTCTCCGGCTTCGGCTGCTTCATGGAGGAACACATCGCAGACCCCTCAGCTTACGGTATCTAC ATTCTTGACCGGCGGTTCCGCAGCCTGGATGATTCCTGCTCGCAGCTCACCTCCTTCCTCTACAGTTTCTGTCAGCAGAGCCGGCGGCAG CGTATCATCCAGCGGAACCGCACGGAGCGCCTCTCCGACCTTCTGGACTGGAAATACCTAGGCCGGGTTTGTCAAGGGCTATTTAATGAG TTACTAGAAAATGGGATTTCTGTGTGGCCTGGTTATTTGGAAACTATGCAGTCCTCATTGGAACAACTTTATTCGAAGTATGATGAAATG AGTATTCTCTTCACAGTTTTGGTTACTGAAACTACTTTGGAGAATGGATTAATACATCTGAGAAGCAGAGACACCACAATGAAGGAAATG ATGCATATATCCAAATTAAAAGACTTTTTGATTAAGTATATATCATCAGCTAAGAATGTATAGATTTTTATATTTGTATAATAAATATTC >In-frame_ENST00000544287_ENST00000539111_TCGA-77-8007-11A_GYS1_chr19_49473802_-_POLG2_chr17_62476506_length(amino acids)=376AA_start in transcript=102_stop in transcript=1232 MDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLY ESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEE FVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQ RNRTERLSDLLDWKYLGRVCQGLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHIS -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for GYS1-POLG2 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
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 |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- 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 |
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Related Drugs for GYS1-POLG2 |
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-POLG2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GYS1 | C1969054 | Glycogen Storage Disease 0, Muscle | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | POLG2 | C1864668 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | POLG2 | C1834846 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | 1 | ORPHANET |