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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:EARS2-COG7 (FusionGDB2 ID:24786) |
Fusion Gene Summary for EARS2-COG7 |
Fusion gene summary |
Fusion gene information | Fusion gene name: EARS2-COG7 | Fusion gene ID: 24786 | Hgene | Tgene | Gene symbol | EARS2 | COG7 | Gene ID | 124454 | 91949 |
Gene name | glutamyl-tRNA synthetase 2, mitochondrial | component of oligomeric golgi complex 7 | |
Synonyms | COXPD12|MSE1|gluRS|mtGlnRS | CDG2E | |
Cytomap | 16p12.2 | 16p12.2 | |
Type of gene | protein-coding | protein-coding | |
Description | probable glutamate--tRNA ligase, mitochondrialglutamate tRNA ligase 2, mitochondrialglutamate--tRNA ligaseprobable glutamyl-tRNA synthetase, mitochondrial | conserved oligomeric Golgi complex subunit 7COG complex subunit 7 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q5JPH6 | P83436 | |
Ensembl transtripts involved in fusion gene | ENST00000449606, ENST00000563459, ENST00000564987, ENST00000564501, ENST00000563232, | ENST00000307149, ENST00000569635, | |
Fusion gene scores | * DoF score | 5 X 6 X 3=90 | 8 X 6 X 5=240 |
# samples | 6 | 7 | |
** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/240*10)=-1.77760757866355 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EARS2 [Title/Abstract] AND COG7 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | EARS2(23563470)-COG7(23430148), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | EARS2-COG7 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. EARS2-COG7 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. EARS2-COG7 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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) |
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 | EARS2 | GO:0006424 | glutamyl-tRNA aminoacylation | 19805282 |
Hgene | EARS2 | GO:0070127 | tRNA aminoacylation for mitochondrial protein translation | 19805282 |
Fusion gene breakpoints across EARS2 (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 COG7 (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 | UCEC | TCGA-BK-A139-01A | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
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Fusion Gene ORF analysis for EARS2-COG7 |
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 | ENST00000449606 | ENST00000307149 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
5CDS-intron | ENST00000449606 | ENST00000569635 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
Frame-shift | ENST00000563459 | ENST00000307149 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
5CDS-intron | ENST00000563459 | ENST00000569635 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
intron-3CDS | ENST00000564987 | ENST00000307149 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
intron-intron | ENST00000564987 | ENST00000569635 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
In-frame | ENST00000564501 | ENST00000307149 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
5CDS-intron | ENST00000564501 | ENST00000569635 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
In-frame | ENST00000563232 | ENST00000307149 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
5CDS-intron | ENST00000563232 | ENST00000569635 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - |
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) |
ENST00000449606 | EARS2 | chr16 | 23563470 | - | ENST00000307149 | COG7 | chr16 | 23430148 | - | 2058 | 327 | 32 | 1630 | 532 |
ENST00000564501 | EARS2 | chr16 | 23563470 | - | ENST00000307149 | COG7 | chr16 | 23430148 | - | 2414 | 683 | 388 | 1986 | 532 |
ENST00000563232 | EARS2 | chr16 | 23563470 | - | ENST00000307149 | COG7 | chr16 | 23430148 | - | 2027 | 296 | 1 | 1599 | 532 |
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 |
ENST00000449606 | ENST00000307149 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - | 0.007637037 | 0.992363 |
ENST00000564501 | ENST00000307149 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - | 0.008417315 | 0.9915827 |
ENST00000563232 | ENST00000307149 | EARS2 | chr16 | 23563470 | - | COG7 | chr16 | 23430148 | - | 0.008046436 | 0.99195355 |
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Fusion Genomic Features for EARS2-COG7 |
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 EARS2-COG7 |
Go to FGviewer for the breakpoints of chr16:23563470-chr16:23430148 - 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 |
EARS2 | COG7 |
FUNCTION: Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu). {ECO:0000250}. | FUNCTION: Required for normal Golgi function. {ECO:0000269|PubMed:11980916}. |
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 |
Hgene | EARS2 | chr16:23563470 | chr16:23430148 | ENST00000449606 | - | 2 | 9 | 45_53 | 98.33333333333333 | 524.0 | Motif | Note='HIGH' region |
Hgene | EARS2 | chr16:23563470 | chr16:23430148 | ENST00000563459 | - | 2 | 10 | 45_53 | 98.33333333333333 | 1205.0 | Motif | Note='HIGH' region |
Hgene | EARS2 | chr16:23563470 | chr16:23430148 | ENST00000449606 | - | 2 | 9 | 40_42 | 98.33333333333333 | 524.0 | Region | Glutamate binding |
Hgene | EARS2 | chr16:23563470 | chr16:23430148 | ENST00000563459 | - | 2 | 10 | 40_42 | 98.33333333333333 | 1205.0 | Region | Glutamate binding |
- 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 |
Hgene | EARS2 | chr16:23563470 | chr16:23430148 | ENST00000449606 | - | 2 | 9 | 284_288 | 98.33333333333333 | 524.0 | Motif | Note='KMSKS' region |
Hgene | EARS2 | chr16:23563470 | chr16:23430148 | ENST00000563459 | - | 2 | 10 | 284_288 | 98.33333333333333 | 1205.0 | Motif | Note='KMSKS' region |
Hgene | EARS2 | chr16:23563470 | chr16:23430148 | ENST00000449606 | - | 2 | 9 | 228_232 | 98.33333333333333 | 524.0 | Region | Glutamate binding |
Hgene | EARS2 | chr16:23563470 | chr16:23430148 | ENST00000563459 | - | 2 | 10 | 228_232 | 98.33333333333333 | 1205.0 | Region | Glutamate binding |
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Fusion Gene Sequence for EARS2-COG7 |
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_ENST00000449606_ENST00000307149_TCGA-BK-A139-01A_EARS2_chr16_23563470_-_COG7_chr16_23430148_length(transcript)=2058nt_BP=327nt GGGAGAAGCCCACGTGTGCTATTCCATCCCACATGGCGGCGCTCCTGAGGAGACTGCTGCAGCGCGAGAGGCCTTCGGCGGCCTCTGGCC GCCCCGTAGGACGGCGCGAGGCCAACCTGGGCACTGATGCCGGGGTTGCGGTGCGAGTGCGGTTCGCTCCCAGCCCCACAGGCTTCTTGC ACCTGGGTGGCCTCCGCACTGCCTTGTACAACTACATCTTTGCTAAGAAGTACCAGGGGAGCTTCATCCTGAGGCTAGAGGACACAGATC AGACTCGCGTTGTGCCTGGGGCAGCGGAGAATATTGAGGACATGCTGGAGTGGGCAGATGAACACAATCTGGTAAAAGTCACGGAGCTGG TGGATGCTGTGTATGATCCATACAAACCCTACCAGCTGAAGTATGGCGACATGGAAGAGAGCAACCTCCTCATCCAGATGAGTGCTGTGC CTCTGGAGCATGGGGAAGTGATTGACTGTGTGCAGGAGCTGAGCCACTCCGTGAACAAGCTGTTTGGTCTGGCGTCTGCAGCCGTTGACA GATGCGTCAGATTCACCAATGGCCTGGGGACCTGCGGCCTGTTGTCAGCCCTGAAATCCCTCTTTGCCAAGTATGTGTCTGATTTCACCA GCACTCTCCAGTCCATACGAAAGAAGTGCAAACTGGACCACATTCCTCCCAACTCCCTCTTCCAGGAAGATTGGACGGCTTTTCAGAACT CCATTAGGATAATAGCCACCTGTGGAGAGCTTTTGCGGCATTGTGGGGACTTCGAGCAGCAGCTAGCCAACAGGATTTTGTCCACAGCTG GGAAGTATCTATCTGATTCCTGCAGCCCCCGGAGCCTGGCTGGTTTTCAGGAGAGCATCTTGACAGACAAGAAGAACTCTGCCAAGAACC CATGGCAAGAATATAATTACCTCCAGAAAGATAACCCTGCTGAATATGCCAGTTTAATGGAAATACTTTATACCCTTAAGGAAAAAGGGT CAAGCAACCACAACCTGCTGGCTGCACCTCGAGCAGCGCTGACTCGGCTTAACCAGCAGGCCCACCAGCTGGCTTTCGATTCCGTGTTCC TGCGCATCAAACAACAGCTGTTGCTTATTTCGAAGATGGACAGCTGGAATACGGCTGGCATCGGAGAAACCCTCACAGATGAACTGCCCG CCTTTAGTCTCACCCCTCTCGAGTACATCAGCAACATCGGGCAGTACATCATGTCCCTCCCCCTGAATCTTGAGCCATTTGTGACTCAGG AGGACTCTGCCTTAGAGTTGGCATTGCACGCTGGAAAGCTGCCATTTCCTCCTGAGCAGGGGGATGAATTGCCCGAGCTGGACAACATGG CTGACAACTGGCTGGGCTCGATCGCCAGAGCCACAATGCAGACCTACTGTGATGCGATCCTACAGATCCCTGAGCTGAGCCCACACTCTG CCAAGCAGCTGGCCACTGACATCGACTATCTGATCAACGTGATGGATGCCCTGGGCCTGCAGCCGTCCCGCACCCTCCAGCACATCGTGA CGCTACTGAAGACCAGGCCTGAGGACTATAGACAGGTCAGCAAAGGCCTGCCCCGTCGCCTGGCCACCACCGTGGCCACCATGCGGAGTG TGAATTACTGACCCCACCACACACCGGACCACCAAGAGAGCCAGGGCTGCTGTTTCGCGACTCACCAGCACAGATTTGCTCAGAAACTCT GCCCAAGATTGGGCAGAAGTTACTTTAAAAAGACTTGGTTCAGCTGGTCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCA AGCCAGATGGATCATGAAGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACAGC AGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGACTTGGTTCATTTGTATAATCAAAAAGAGTTGTAAATTAAAGATGTATTATTT >In-frame_ENST00000449606_ENST00000307149_TCGA-BK-A139-01A_EARS2_chr16_23563470_-_COG7_chr16_23430148_length(amino acids)=532AA_start in transcript=32_stop in transcript=1630 MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQTRVVPGAAEN IEDMLEWADEHNLVKVTELVDAVYDPYKPYQLKYGDMEESNLLIQMSAVPLEHGEVIDCVQELSHSVNKLFGLASAAVDRCVRFTNGLGT CGLLSALKSLFAKYVSDFTSTLQSIRKKCKLDHIPPNSLFQEDWTAFQNSIRIIATCGELLRHCGDFEQQLANRILSTAGKYLSDSCSPR SLAGFQESILTDKKNSAKNPWQEYNYLQKDNPAEYASLMEILYTLKEKGSSNHNLLAAPRAALTRLNQQAHQLAFDSVFLRIKQQLLLIS KMDSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFVTQEDSALELALHAGKLPFPPEQGDELPELDNMADNWLGSIARA -------------------------------------------------------------- >In-frame_ENST00000564501_ENST00000307149_TCGA-BK-A139-01A_EARS2_chr16_23563470_-_COG7_chr16_23430148_length(transcript)=2414nt_BP=683nt ACAACACCCACCGCTCCCGCAGAGGCCGCTGGGAAGAGGCGAGCTGGCTGAGATTGGCCCCCGCAGCAGCCCCTAATCTCTCACAGCCCG GCCGGAAACAGGTGGAGGTTTCTATGGAGACCCGCCTCCTCCGCTCCCAGGTCCGGCCCCTGCCACGCTTTCGCTTTCCCAAGCTGAAGG GGGCGGGTCCGGGAAATAGCCCTTTCTCTGGCCTCTGCCCCCTGGTGGCGAGTGCGGCCGCAGCCGTCCAGGGGGGCGTGGGATTTCGCG CTAGGGGGCCTGTGACTTTAAGGGGCAAGGCTGCGCTGGCTGTGGCGGAGGCCGATTGGCTGGAAGCAGTCCCCGGAAGTGACGCAGGGA GAAGCCCACGTGTGCTATTCCATCCCACATGGCGGCGCTCCTGAGGAGACTGCTGCAGCGCGAGAGGCCTTCGGCGGCCTCTGGCCGCCC CGTAGGACGGCGCGAGGCCAACCTGGGCACTGATGCCGGGGTTGCGGTGCGAGTGCGGTTCGCTCCCAGCCCCACAGGCTTCTTGCACCT GGGTGGCCTCCGCACTGCCTTGTACAACTACATCTTTGCTAAGAAGTACCAGGGGAGCTTCATCCTGAGGCTAGAGGACACAGATCAGAC TCGCGTTGTGCCTGGGGCAGCGGAGAATATTGAGGACATGCTGGAGTGGGCAGATGAACACAATCTGGTAAAAGTCACGGAGCTGGTGGA TGCTGTGTATGATCCATACAAACCCTACCAGCTGAAGTATGGCGACATGGAAGAGAGCAACCTCCTCATCCAGATGAGTGCTGTGCCTCT GGAGCATGGGGAAGTGATTGACTGTGTGCAGGAGCTGAGCCACTCCGTGAACAAGCTGTTTGGTCTGGCGTCTGCAGCCGTTGACAGATG CGTCAGATTCACCAATGGCCTGGGGACCTGCGGCCTGTTGTCAGCCCTGAAATCCCTCTTTGCCAAGTATGTGTCTGATTTCACCAGCAC TCTCCAGTCCATACGAAAGAAGTGCAAACTGGACCACATTCCTCCCAACTCCCTCTTCCAGGAAGATTGGACGGCTTTTCAGAACTCCAT TAGGATAATAGCCACCTGTGGAGAGCTTTTGCGGCATTGTGGGGACTTCGAGCAGCAGCTAGCCAACAGGATTTTGTCCACAGCTGGGAA GTATCTATCTGATTCCTGCAGCCCCCGGAGCCTGGCTGGTTTTCAGGAGAGCATCTTGACAGACAAGAAGAACTCTGCCAAGAACCCATG GCAAGAATATAATTACCTCCAGAAAGATAACCCTGCTGAATATGCCAGTTTAATGGAAATACTTTATACCCTTAAGGAAAAAGGGTCAAG CAACCACAACCTGCTGGCTGCACCTCGAGCAGCGCTGACTCGGCTTAACCAGCAGGCCCACCAGCTGGCTTTCGATTCCGTGTTCCTGCG CATCAAACAACAGCTGTTGCTTATTTCGAAGATGGACAGCTGGAATACGGCTGGCATCGGAGAAACCCTCACAGATGAACTGCCCGCCTT TAGTCTCACCCCTCTCGAGTACATCAGCAACATCGGGCAGTACATCATGTCCCTCCCCCTGAATCTTGAGCCATTTGTGACTCAGGAGGA CTCTGCCTTAGAGTTGGCATTGCACGCTGGAAAGCTGCCATTTCCTCCTGAGCAGGGGGATGAATTGCCCGAGCTGGACAACATGGCTGA CAACTGGCTGGGCTCGATCGCCAGAGCCACAATGCAGACCTACTGTGATGCGATCCTACAGATCCCTGAGCTGAGCCCACACTCTGCCAA GCAGCTGGCCACTGACATCGACTATCTGATCAACGTGATGGATGCCCTGGGCCTGCAGCCGTCCCGCACCCTCCAGCACATCGTGACGCT ACTGAAGACCAGGCCTGAGGACTATAGACAGGTCAGCAAAGGCCTGCCCCGTCGCCTGGCCACCACCGTGGCCACCATGCGGAGTGTGAA TTACTGACCCCACCACACACCGGACCACCAAGAGAGCCAGGGCTGCTGTTTCGCGACTCACCAGCACAGATTTGCTCAGAAACTCTGCCC AAGATTGGGCAGAAGTTACTTTAAAAAGACTTGGTTCAGCTGGTCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCC AGATGGATCATGAAGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACAGCAGAG CGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGACTTGGTTCATTTGTATAATCAAAAAGAGTTGTAAATTAAAGATGTATTATTTATCA >In-frame_ENST00000564501_ENST00000307149_TCGA-BK-A139-01A_EARS2_chr16_23563470_-_COG7_chr16_23430148_length(amino acids)=532AA_start in transcript=388_stop in transcript=1986 MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQTRVVPGAAEN IEDMLEWADEHNLVKVTELVDAVYDPYKPYQLKYGDMEESNLLIQMSAVPLEHGEVIDCVQELSHSVNKLFGLASAAVDRCVRFTNGLGT CGLLSALKSLFAKYVSDFTSTLQSIRKKCKLDHIPPNSLFQEDWTAFQNSIRIIATCGELLRHCGDFEQQLANRILSTAGKYLSDSCSPR SLAGFQESILTDKKNSAKNPWQEYNYLQKDNPAEYASLMEILYTLKEKGSSNHNLLAAPRAALTRLNQQAHQLAFDSVFLRIKQQLLLIS KMDSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFVTQEDSALELALHAGKLPFPPEQGDELPELDNMADNWLGSIARA -------------------------------------------------------------- >In-frame_ENST00000563232_ENST00000307149_TCGA-BK-A139-01A_EARS2_chr16_23563470_-_COG7_chr16_23430148_length(transcript)=2027nt_BP=296nt CATGGCGGCGCTCCTGAGGAGACTGCTGCAGCGCGAGAGGCCTTCGGCGGCCTCTGGCCGCCCCGTAGGACGGCGCGAGGCCAACCTGGG CACTGATGCCGGGGTTGCGGTGCGAGTGCGGTTCGCTCCCAGCCCCACAGGCTTCTTGCACCTGGGTGGCCTCCGCACTGCCTTGTACAA CTACATCTTTGCTAAGAAGTACCAGGGGAGCTTCATCCTGAGGCTAGAGGACACAGATCAGACTCGCGTTGTGCCTGGGGCAGCGGAGAA TATTGAGGACATGCTGGAGTGGGCAGATGAACACAATCTGGTAAAAGTCACGGAGCTGGTGGATGCTGTGTATGATCCATACAAACCCTA CCAGCTGAAGTATGGCGACATGGAAGAGAGCAACCTCCTCATCCAGATGAGTGCTGTGCCTCTGGAGCATGGGGAAGTGATTGACTGTGT GCAGGAGCTGAGCCACTCCGTGAACAAGCTGTTTGGTCTGGCGTCTGCAGCCGTTGACAGATGCGTCAGATTCACCAATGGCCTGGGGAC CTGCGGCCTGTTGTCAGCCCTGAAATCCCTCTTTGCCAAGTATGTGTCTGATTTCACCAGCACTCTCCAGTCCATACGAAAGAAGTGCAA ACTGGACCACATTCCTCCCAACTCCCTCTTCCAGGAAGATTGGACGGCTTTTCAGAACTCCATTAGGATAATAGCCACCTGTGGAGAGCT TTTGCGGCATTGTGGGGACTTCGAGCAGCAGCTAGCCAACAGGATTTTGTCCACAGCTGGGAAGTATCTATCTGATTCCTGCAGCCCCCG GAGCCTGGCTGGTTTTCAGGAGAGCATCTTGACAGACAAGAAGAACTCTGCCAAGAACCCATGGCAAGAATATAATTACCTCCAGAAAGA TAACCCTGCTGAATATGCCAGTTTAATGGAAATACTTTATACCCTTAAGGAAAAAGGGTCAAGCAACCACAACCTGCTGGCTGCACCTCG AGCAGCGCTGACTCGGCTTAACCAGCAGGCCCACCAGCTGGCTTTCGATTCCGTGTTCCTGCGCATCAAACAACAGCTGTTGCTTATTTC GAAGATGGACAGCTGGAATACGGCTGGCATCGGAGAAACCCTCACAGATGAACTGCCCGCCTTTAGTCTCACCCCTCTCGAGTACATCAG CAACATCGGGCAGTACATCATGTCCCTCCCCCTGAATCTTGAGCCATTTGTGACTCAGGAGGACTCTGCCTTAGAGTTGGCATTGCACGC TGGAAAGCTGCCATTTCCTCCTGAGCAGGGGGATGAATTGCCCGAGCTGGACAACATGGCTGACAACTGGCTGGGCTCGATCGCCAGAGC CACAATGCAGACCTACTGTGATGCGATCCTACAGATCCCTGAGCTGAGCCCACACTCTGCCAAGCAGCTGGCCACTGACATCGACTATCT GATCAACGTGATGGATGCCCTGGGCCTGCAGCCGTCCCGCACCCTCCAGCACATCGTGACGCTACTGAAGACCAGGCCTGAGGACTATAG ACAGGTCAGCAAAGGCCTGCCCCGTCGCCTGGCCACCACCGTGGCCACCATGCGGAGTGTGAATTACTGACCCCACCACACACCGGACCA CCAAGAGAGCCAGGGCTGCTGTTTCGCGACTCACCAGCACAGATTTGCTCAGAAACTCTGCCCAAGATTGGGCAGAAGTTACTTTAAAAA GACTTGGTTCAGCTGGTCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGATGGATCATGAAGCCAGGAGTTCGA GACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACAGCAGAGCGAGACTCTGTCTCAAAAAAAAAAAAA AAAAAGACTTGGTTCATTTGTATAATCAAAAAGAGTTGTAAATTAAAGATGTATTATTTATCAGAGAAGACTTTTTAGATAATTTTTTTA >In-frame_ENST00000563232_ENST00000307149_TCGA-BK-A139-01A_EARS2_chr16_23563470_-_COG7_chr16_23430148_length(amino acids)=532AA_start in transcript=1_stop in transcript=1599 MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQTRVVPGAAEN IEDMLEWADEHNLVKVTELVDAVYDPYKPYQLKYGDMEESNLLIQMSAVPLEHGEVIDCVQELSHSVNKLFGLASAAVDRCVRFTNGLGT CGLLSALKSLFAKYVSDFTSTLQSIRKKCKLDHIPPNSLFQEDWTAFQNSIRIIATCGELLRHCGDFEQQLANRILSTAGKYLSDSCSPR SLAGFQESILTDKKNSAKNPWQEYNYLQKDNPAEYASLMEILYTLKEKGSSNHNLLAAPRAALTRLNQQAHQLAFDSVFLRIKQQLLLIS KMDSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFVTQEDSALELALHAGKLPFPPEQGDELPELDNMADNWLGSIARA -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for EARS2-COG7 |
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 EARS2-COG7 |
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 |
Hgene | EARS2 | Q5JPH6 | DB00142 | Glutamic acid | Small molecule | Approved|Nutraceutical | |
Hgene | EARS2 | Q5JPH6 | DB00142 | Glutamic acid | Small molecule | Approved|Nutraceutical |
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Related Diseases for EARS2-COG7 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EARS2 | C3554079 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | EARS2 | C0014544 | Epilepsy | 1 | GENOMICS_ENGLAND |
Tgene | COG7 | C2931010 | Congenital disorder of glycosylation type 2E | 4 | CTD_human;GENOMICS_ENGLAND |