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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:KLHL20-DARS2 (FusionGDB2 ID:42769) |
Fusion Gene Summary for KLHL20-DARS2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: KLHL20-DARS2 | Fusion gene ID: 42769 | Hgene | Tgene | Gene symbol | KLHL20 | DARS2 | Gene ID | 27252 | 55157 |
Gene name | kelch like family member 20 | aspartyl-tRNA synthetase 2, mitochondrial | |
Synonyms | KHLHX|KLEIP|KLHLX | ASPRS|LBSL|MT-ASPRS|mtAspRS | |
Cytomap | 1q25.1 | 1q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | kelch-like protein 20Kelch motif containing proteinkelch-like ECT2-interacting proteinkelch-like protein X | aspartate--tRNA ligase, mitochondrialaspartate tRNA ligase 2, mitochondrialaspartyl-tRNA synthetase, mitochondrial | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | Q9Y2M5 | Q6PI48 | |
Ensembl transtripts involved in fusion gene | ENST00000546011, ENST00000209884, ENST00000493170, | ENST00000361951, ENST00000239457, ENST00000471476, | |
Fusion gene scores | * DoF score | 2 X 3 X 3=18 | 6 X 6 X 8=288 |
# samples | 3 | 9 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/288*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: KLHL20 [Title/Abstract] AND DARS2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | KLHL20(173703425)-DARS2(173819464), # samples:1 KLHL20(173721061)-DARS2(173825803), # 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 | KLHL20 | GO:0016567 | protein ubiquitination | 20389280 |
Hgene | KLHL20 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 20389280 |
Hgene | KLHL20 | GO:1990390 | protein K33-linked ubiquitination | 24768539 |
Tgene | DARS2 | GO:0043039 | tRNA aminoacylation | 15779907|17384640 |
Tgene | DARS2 | GO:0070145 | mitochondrial asparaginyl-tRNA aminoacylation | 23275545 |
Fusion gene breakpoints across KLHL20 (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 DARS2 (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 | ESCA | TCGA-L7-A56G | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
ChimerDB4 | OV | TCGA-13-0897 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
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Fusion Gene ORF analysis for KLHL20-DARS2 |
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 |
intron-3CDS | ENST00000546011 | ENST00000361951 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
intron-5UTR | ENST00000546011 | ENST00000239457 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
intron-3UTR | ENST00000546011 | ENST00000471476 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
In-frame | ENST00000209884 | ENST00000361951 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
5CDS-5UTR | ENST00000209884 | ENST00000239457 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
5CDS-3UTR | ENST00000209884 | ENST00000471476 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
3UTR-3CDS | ENST00000493170 | ENST00000361951 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
3UTR-5UTR | ENST00000493170 | ENST00000239457 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
3UTR-3UTR | ENST00000493170 | ENST00000471476 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + |
In-frame | ENST00000546011 | ENST00000361951 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
In-frame | ENST00000546011 | ENST00000239457 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
5CDS-3UTR | ENST00000546011 | ENST00000471476 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
In-frame | ENST00000209884 | ENST00000361951 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
In-frame | ENST00000209884 | ENST00000239457 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
5CDS-3UTR | ENST00000209884 | ENST00000471476 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
intron-3CDS | ENST00000493170 | ENST00000361951 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
intron-3CDS | ENST00000493170 | ENST00000239457 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
intron-3UTR | ENST00000493170 | ENST00000471476 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + |
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) |
ENST00000209884 | KLHL20 | chr1 | 173703425 | + | ENST00000361951 | DARS2 | chr1 | 173819464 | + | 2321 | 733 | 136 | 1479 | 447 |
ENST00000546011 | KLHL20 | chr1 | 173721061 | + | ENST00000361951 | DARS2 | chr1 | 173825803 | + | 1437 | 332 | 143 | 595 | 150 |
ENST00000546011 | KLHL20 | chr1 | 173721061 | + | ENST00000239457 | DARS2 | chr1 | 173825803 | + | 1435 | 332 | 143 | 595 | 150 |
ENST00000209884 | KLHL20 | chr1 | 173721061 | + | ENST00000361951 | DARS2 | chr1 | 173825803 | + | 1997 | 892 | 136 | 1155 | 339 |
ENST00000209884 | KLHL20 | chr1 | 173721061 | + | ENST00000239457 | DARS2 | chr1 | 173825803 | + | 1995 | 892 | 136 | 1155 | 339 |
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 |
ENST00000209884 | ENST00000361951 | KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + | 0.001131697 | 0.99886835 |
ENST00000546011 | ENST00000361951 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + | 0.003000847 | 0.99699914 |
ENST00000546011 | ENST00000239457 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + | 0.003004423 | 0.99699557 |
ENST00000209884 | ENST00000361951 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + | 0.001718007 | 0.9982821 |
ENST00000209884 | ENST00000239457 | KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + | 0.001711009 | 0.9982889 |
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Fusion Genomic Features for KLHL20-DARS2 |
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) |
KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + | 0.000262197 | 0.9997378 |
KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + | 8.24E-05 | 0.9999176 |
KLHL20 | chr1 | 173703425 | + | DARS2 | chr1 | 173819464 | + | 0.000262197 | 0.9997378 |
KLHL20 | chr1 | 173721061 | + | DARS2 | chr1 | 173825803 | + | 8.24E-05 | 0.9999176 |
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 KLHL20-DARS2 |
Go to FGviewer for the breakpoints of chr1:173703425-chr1:173819464 - 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 |
KLHL20 | DARS2 |
FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination (PubMed:24768539). Involved in anterograde Golgi to endosome transport by mediating 'Lys-33'-linked ubiquitination of CORO7, promoting interaction between CORO7 and EPS15, thereby facilitating actin polymerization and post-Golgi trafficking (PubMed:24768539). Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligase complex acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitin ligase complex is involved in tumor hypoxia: following hypoxia, the BCR(KLHL20)complex mediates ubiquitination and degradation of PML, potentiating HIF-1 signaling and cancer progression (PubMed:21840486). {ECO:0000269|PubMed:14528312, ECO:0000269|PubMed:17395875, ECO:0000269|PubMed:20389280, ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486, ECO:0000269|PubMed:24768539}. |
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 | KLHL20 | chr1:173703425 | chr1:173819464 | ENST00000209884 | + | 3 | 12 | 68_135 | 199.0 | 610.0 | Domain | BTB |
Hgene | KLHL20 | chr1:173721061 | chr1:173825803 | ENST00000209884 | + | 4 | 12 | 68_135 | 252.0 | 610.0 | Domain | BTB |
Tgene | DARS2 | chr1:173703425 | chr1:173819464 | ENST00000361951 | 11 | 17 | 584_587 | 397.0 | 646.0 | Nucleotide binding | ATP | |
Tgene | DARS2 | chr1:173721061 | chr1:173825803 | ENST00000361951 | 14 | 17 | 584_587 | 558.0 | 646.0 | Nucleotide binding | ATP |
- 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 | KLHL20 | chr1:173703425 | chr1:173819464 | ENST00000209884 | + | 3 | 12 | 170_272 | 199.0 | 610.0 | Domain | Note=BACK |
Hgene | KLHL20 | chr1:173721061 | chr1:173825803 | ENST00000209884 | + | 4 | 12 | 170_272 | 252.0 | 610.0 | Domain | Note=BACK |
Hgene | KLHL20 | chr1:173703425 | chr1:173819464 | ENST00000209884 | + | 3 | 12 | 319_365 | 199.0 | 610.0 | Repeat | Note=Kelch 1 |
Hgene | KLHL20 | chr1:173703425 | chr1:173819464 | ENST00000209884 | + | 3 | 12 | 367_413 | 199.0 | 610.0 | Repeat | Note=Kelch 2 |
Hgene | KLHL20 | chr1:173703425 | chr1:173819464 | ENST00000209884 | + | 3 | 12 | 414_460 | 199.0 | 610.0 | Repeat | Note=Kelch 3 |
Hgene | KLHL20 | chr1:173703425 | chr1:173819464 | ENST00000209884 | + | 3 | 12 | 462_507 | 199.0 | 610.0 | Repeat | Note=Kelch 4 |
Hgene | KLHL20 | chr1:173703425 | chr1:173819464 | ENST00000209884 | + | 3 | 12 | 509_554 | 199.0 | 610.0 | Repeat | Note=Kelch 5 |
Hgene | KLHL20 | chr1:173703425 | chr1:173819464 | ENST00000209884 | + | 3 | 12 | 556_601 | 199.0 | 610.0 | Repeat | Note=Kelch 6 |
Hgene | KLHL20 | chr1:173721061 | chr1:173825803 | ENST00000209884 | + | 4 | 12 | 319_365 | 252.0 | 610.0 | Repeat | Note=Kelch 1 |
Hgene | KLHL20 | chr1:173721061 | chr1:173825803 | ENST00000209884 | + | 4 | 12 | 367_413 | 252.0 | 610.0 | Repeat | Note=Kelch 2 |
Hgene | KLHL20 | chr1:173721061 | chr1:173825803 | ENST00000209884 | + | 4 | 12 | 414_460 | 252.0 | 610.0 | Repeat | Note=Kelch 3 |
Hgene | KLHL20 | chr1:173721061 | chr1:173825803 | ENST00000209884 | + | 4 | 12 | 462_507 | 252.0 | 610.0 | Repeat | Note=Kelch 4 |
Hgene | KLHL20 | chr1:173721061 | chr1:173825803 | ENST00000209884 | + | 4 | 12 | 509_554 | 252.0 | 610.0 | Repeat | Note=Kelch 5 |
Hgene | KLHL20 | chr1:173721061 | chr1:173825803 | ENST00000209884 | + | 4 | 12 | 556_601 | 252.0 | 610.0 | Repeat | Note=Kelch 6 |
Tgene | DARS2 | chr1:173703425 | chr1:173819464 | ENST00000361951 | 11 | 17 | 266_268 | 397.0 | 646.0 | Nucleotide binding | ATP | |
Tgene | DARS2 | chr1:173721061 | chr1:173825803 | ENST00000361951 | 14 | 17 | 266_268 | 558.0 | 646.0 | Nucleotide binding | ATP | |
Tgene | DARS2 | chr1:173703425 | chr1:173819464 | ENST00000361951 | 11 | 17 | 244_247 | 397.0 | 646.0 | Region | Aspartate | |
Tgene | DARS2 | chr1:173721061 | chr1:173825803 | ENST00000361951 | 14 | 17 | 244_247 | 558.0 | 646.0 | Region | Aspartate |
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Fusion Gene Sequence for KLHL20-DARS2 |
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_ENST00000209884_ENST00000361951_TCGA-L7-A56G_KLHL20_chr1_173703425_+_DARS2_chr1_173819464_length(transcript)=2321nt_BP=733nt CTGCCTGCGTTAGCGGCGGTGGAGGAGGAGGCAGAGAGGAGTGGAGGGCGGAGTAGACGGAGGAGGCTGCTGCAGAGAAGAAAGTGTCAG AGCCGGTTCGGCTTTAGAGTGTGGTGAAGGGTACTTTTCATGGTGCATGGAAGGAAAGCCAATGCGCAGGTGTACCAACATTCGACCAGG AGAGACTGGAATGGATGTAACAAGCCGCTGCACCCTTGGAGACCCCAACAAACTGCCAGAAGGGGTTCCCCAACCTGCCCGCATGCCCTA TATCTCAGACAAGCACCCTCGACAAACCTTGGAAGTGATTAACCTTCTGAGAAAGCACCGGGAGCTATGTGATGTGGTGCTAGTTGTGGG CGCCAAGAAGATATATGCCCATCGAGTCATTTTGTCAGCCTGTAGTCCCTACTTCCGAGCTATGTTTACAGGAGAATTGGCAGAGAGCCG TCAGACAGAAGTAGTGATCCGAGACATTGACGAGAGGGCTATGGAATTACTGATTGACTTTGCGTATACCTCCCAGATAACAGTAGAAGA GGGCAATGTTCAGACTCTTCTGCCAGCTGCTTGCCTCCTCCAGCTGGCAGAAATACAGGAAGCCTGCTGTGAATTCTTAAAGAGACAATT AGATCCTTCTAACTGCCTGGGCATTCGGGCTTTTGCTGACACACATTCATGTCGTGAGTTGCTAAGGATAGCAGACAAGTTCACCCAACA TAACTTTCAAGAGGAAATCTTACCTGTATTCCTTAACGCCAATAGAAACTGGAATTCTCCAGTTGCTAATTTCATAATGGAGTCACAAAG ACTGGAATTAATCAGACTAATGGAGACCCAAGAGGAAGATGTGGTCCTACTAACTGCTGGAGAGCACAATAAAGCATGCTCTTTGTTAGG AAAATTACGACTGGAATGTGCTGACCTTCTAGAAACAAGAGGAGTGGTGCTCCGTGACCCCACTCTGTTCTCTTTCCTTTGGGTGGTAGA TTTCCCACTCTTCCTGCCCAAGGAGGAAAATCCCAGAGAGCTGGAATCGGCCCACCACCCATTTACTGCTCCCCACCCCAGTGACATACA TCTCCTGTACACTGAGCCCAAAAAGGCCCGTAGCCAACACTATGACTTGGTTTTAAATGGCAATGAAATAGGAGGTGGTTCAATTCGAAT TCACAATGCAGAGCTGCAGCGTTATATCCTGGCAACCTTACTAAAGGAGGATGTGAAAATGCTCTCCCATCTGCTCCAGGCTTTAGATTA TGGGGCACCCCCTCATGGAGGAATTGCCTTAGGGTTAGACAGACTGATATGCCTTGTCACTGGATCTCCAAGCATCAGAGATGTCATAGC CTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATACCCCAGATTCTGTCCCTCCTGAGGAACTGAAGCCCTATCATATCCGAGT CTCCAAGCCAACAGACTCCAAAGCAGAAAGAGCTCATTGAATCATGCATACCATGCAGAAAGTTGAGCTTTTAGGTTTTGTCCTCTTTGC TTCCCCAAGGCTAAAGTCAGATCTAGAGTTCTGCCACAGGTCTAACAATCAAGTCTTTAGATGGAAGGAATCCAGGCAACATTCTTCACC ACAACGAAGAAACAGATAAAAGATACCCAATTTTGACTTGATTTCATGCATCATTTGGATTTTTTTTGGTTAGGACTTTTTTTGAAGTTC CTTTTTACTTAGGTGTGAAAGATGGTTCTTTGTTGAAATAATATAGTGGTTTAGTGTTTTCAAATCATGTTTCTCATACCCAGATAGTAG ATTATTCACTTAGGACAGAGGTAATCAAATTATGTGTGAAATGTAGGAAAATGCTTGCCCCTGTAAACTAGTGAGTTGATGGAGCATTTG CTTCATCATCCTCATCAAGAGAATCATATAAATTAAGCTTTATAATGACATTTCAACCATCAACATAATATAGTGAGGAGTAGCATAATA TTTTTTAATAATGCAGAAAACATCACTGAAATGAGAGTCACAAATTTTTCTTCAGTGTTTCAGCCTGAGTAAGTTACATAAACCTCGCTT AGCCTCCCTTCCTGCTAATGTGTAAAATACATACTTGCCCTGGCTACCTCACCGGGCTGTTATTGCTGGAATCAGAGGAGATAACATATA TGGAAGATAAAGTGAATAAAAGTACTTTGAAAAACTATAAAGCATTCCACAAATATGAGATGATGGTATTATCCATCCATAAATAGGTAG >In-frame_ENST00000209884_ENST00000361951_TCGA-L7-A56G_KLHL20_chr1_173703425_+_DARS2_chr1_173819464_length(amino acids)=447AA_start in transcript=136_stop in transcript=1479 MEGKPMRRCTNIRPGETGMDVTSRCTLGDPNKLPEGVPQPARMPYISDKHPRQTLEVINLLRKHRELCDVVLVVGAKKIYAHRVILSACS PYFRAMFTGELAESRQTEVVIRDIDERAMELLIDFAYTSQITVEEGNVQTLLPAACLLQLAEIQEACCEFLKRQLDPSNCLGIRAFADTH SCRELLRIADKFTQHNFQEEILPVFLNANRNWNSPVANFIMESQRLELIRLMETQEEDVVLLTAGEHNKACSLLGKLRLECADLLETRGV VLRDPTLFSFLWVVDFPLFLPKEENPRELESAHHPFTAPHPSDIHLLYTEPKKARSQHYDLVLNGNEIGGGSIRIHNAELQRYILATLLK -------------------------------------------------------------- >In-frame_ENST00000546011_ENST00000361951_TCGA-13-0897_KLHL20_chr1_173721061_+_DARS2_chr1_173825803_length(transcript)=1437nt_BP=332nt CTACGAGCGGCATCCTGCCTGCGTTAGCGGCGGTGGAGGAGGAGGCAGAGAGGAGTGGAGGGCGGAGTAGACGGAGGAGGCTGCTGCAGA GAAGAAAGTGTCAGAGCCGGTTCGGCTTTAGAGTGTGGTGAAGGGTACTTTTCATGGTGCATGGAAGGAAAGCCAATGCGCAGGTAATGG AGAGTGAAGAGTTCATGTTGCTTCCAGCCAATCAACTCATTGATATAATATCCAGTGATGAGCTAAACGTTCGCAGTGAAGAACAAGTGT TCAATGCAGTGATGGCCTGGGTCAAATACAGTATTCAGGAAAGACGTCCTCAATTACCCCAGGAGGATGTGAAAATGCTCTCCCATCTGC TCCAGGCTTTAGATTATGGGGCACCCCCTCATGGAGGAATTGCCTTAGGGTTAGACAGACTGATATGCCTTGTCACTGGATCTCCAAGCA TCAGAGATGTCATAGCCTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATACCCCAGATTCTGTCCCTCCTGAGGAACTGAAGC CCTATCATATCCGAGTCTCCAAGCCAACAGACTCCAAAGCAGAAAGAGCTCATTGAATCATGCATACCATGCAGAAAGTTGAGCTTTTAG GTTTTGTCCTCTTTGCTTCCCCAAGGCTAAAGTCAGATCTAGAGTTCTGCCACAGGTCTAACAATCAAGTCTTTAGATGGAAGGAATCCA GGCAACATTCTTCACCACAACGAAGAAACAGATAAAAGATACCCAATTTTGACTTGATTTCATGCATCATTTGGATTTTTTTTGGTTAGG ACTTTTTTTGAAGTTCCTTTTTACTTAGGTGTGAAAGATGGTTCTTTGTTGAAATAATATAGTGGTTTAGTGTTTTCAAATCATGTTTCT CATACCCAGATAGTAGATTATTCACTTAGGACAGAGGTAATCAAATTATGTGTGAAATGTAGGAAAATGCTTGCCCCTGTAAACTAGTGA GTTGATGGAGCATTTGCTTCATCATCCTCATCAAGAGAATCATATAAATTAAGCTTTATAATGACATTTCAACCATCAACATAATATAGT GAGGAGTAGCATAATATTTTTTAATAATGCAGAAAACATCACTGAAATGAGAGTCACAAATTTTTCTTCAGTGTTTCAGCCTGAGTAAGT TACATAAACCTCGCTTAGCCTCCCTTCCTGCTAATGTGTAAAATACATACTTGCCCTGGCTACCTCACCGGGCTGTTATTGCTGGAATCA GAGGAGATAACATATATGGAAGATAAAGTGAATAAAAGTACTTTGAAAAACTATAAAGCATTCCACAAATATGAGATGATGGTATTATCC >In-frame_ENST00000546011_ENST00000361951_TCGA-13-0897_KLHL20_chr1_173721061_+_DARS2_chr1_173825803_length(amino acids)=150AA_start in transcript=143_stop in transcript=595 MVHGRKANAQVMESEEFMLLPANQLIDIISSDELNVRSEEQVFNAVMAWVKYSIQERRPQLPQEDVKMLSHLLQALDYGAPPHGGIALGL -------------------------------------------------------------- >In-frame_ENST00000546011_ENST00000239457_TCGA-13-0897_KLHL20_chr1_173721061_+_DARS2_chr1_173825803_length(transcript)=1435nt_BP=332nt CTACGAGCGGCATCCTGCCTGCGTTAGCGGCGGTGGAGGAGGAGGCAGAGAGGAGTGGAGGGCGGAGTAGACGGAGGAGGCTGCTGCAGA GAAGAAAGTGTCAGAGCCGGTTCGGCTTTAGAGTGTGGTGAAGGGTACTTTTCATGGTGCATGGAAGGAAAGCCAATGCGCAGGTAATGG AGAGTGAAGAGTTCATGTTGCTTCCAGCCAATCAACTCATTGATATAATATCCAGTGATGAGCTAAACGTTCGCAGTGAAGAACAAGTGT TCAATGCAGTGATGGCCTGGGTCAAATACAGTATTCAGGAAAGACGTCCTCAATTACCCCAGGAGGATGTGAAAATGCTCTCCCATCTGC TCCAGGCTTTAGATTATGGGGCACCCCCTCATGGAGGAATTGCCTTAGGGTTAGACAGACTGATATGCCTTGTCACTGGATCTCCAAGCA TCAGAGATGTCATAGCCTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATACCCCAGATTCTGTCCCTCCTGAGGAACTGAAGC CCTATCATATCCGAGTCTCCAAGCCAACAGACTCCAAAGCAGAAAGAGCTCATTGAATCATGCATACCATGCAGAAAGTTGAGCTTTTAG GTTTTGTCCTCTTTGCTTCCCCAAGGCTAAAGTCAGATCTAGAGTTCTGCCACAGGTCTAACAATCAAGTCTTTAGATGGAAGGAATCCA GGCAACATTCTTCACCACAACGAAGAAACAGATAAAAGATACCCAATTTTGACTTGATTTCATGCATCATTTGGATTTTTTTTGGTTAGG ACTTTTTTTGAAGTTCCTTTTTACTTAGGTGTGAAAGATGGTTCTTTGTTGAAATAATATAGTGGTTTAGTGTTTTCAAATCATGTTTCT CATACCCAGATAGTAGATTATTCACTTAGGACAGAGGTAATCAAATTATGTGTGAAATGTAGGAAAATGCTTGCCCCTGTAAACTAGTGA GTTGATGGAGCATTTGCTTCATCATCCTCATCAAGAGAATCATATAAATTAAGCTTTATAATGACATTTCAACCATCAACATAATATAGT GAGGAGTAGCATAATATTTTTTAATAATGCAGAAAACATCACTGAAATGAGAGTCACAAATTTTTCTTCAGTGTTTCAGCCTGAGTAAGT TACATAAACCTCGCTTAGCCTCCCTTCCTGCTAATGTGTAAAATACATACTTGCCCTGGCTACCTCACCGGGCTGTTATTGCTGGAATCA GAGGAGATAACATATATGGAAGATAAAGTGAATAAAAGTACTTTGAAAAACTATAAAGCATTCCACAAATATGAGATGATGGTATTATCC >In-frame_ENST00000546011_ENST00000239457_TCGA-13-0897_KLHL20_chr1_173721061_+_DARS2_chr1_173825803_length(amino acids)=150AA_start in transcript=143_stop in transcript=595 MVHGRKANAQVMESEEFMLLPANQLIDIISSDELNVRSEEQVFNAVMAWVKYSIQERRPQLPQEDVKMLSHLLQALDYGAPPHGGIALGL -------------------------------------------------------------- >In-frame_ENST00000209884_ENST00000361951_TCGA-13-0897_KLHL20_chr1_173721061_+_DARS2_chr1_173825803_length(transcript)=1997nt_BP=892nt CTGCCTGCGTTAGCGGCGGTGGAGGAGGAGGCAGAGAGGAGTGGAGGGCGGAGTAGACGGAGGAGGCTGCTGCAGAGAAGAAAGTGTCAG AGCCGGTTCGGCTTTAGAGTGTGGTGAAGGGTACTTTTCATGGTGCATGGAAGGAAAGCCAATGCGCAGGTGTACCAACATTCGACCAGG AGAGACTGGAATGGATGTAACAAGCCGCTGCACCCTTGGAGACCCCAACAAACTGCCAGAAGGGGTTCCCCAACCTGCCCGCATGCCCTA TATCTCAGACAAGCACCCTCGACAAACCTTGGAAGTGATTAACCTTCTGAGAAAGCACCGGGAGCTATGTGATGTGGTGCTAGTTGTGGG CGCCAAGAAGATATATGCCCATCGAGTCATTTTGTCAGCCTGTAGTCCCTACTTCCGAGCTATGTTTACAGGAGAATTGGCAGAGAGCCG TCAGACAGAAGTAGTGATCCGAGACATTGACGAGAGGGCTATGGAATTACTGATTGACTTTGCGTATACCTCCCAGATAACAGTAGAAGA GGGCAATGTTCAGACTCTTCTGCCAGCTGCTTGCCTCCTCCAGCTGGCAGAAATACAGGAAGCCTGCTGTGAATTCTTAAAGAGACAATT AGATCCTTCTAACTGCCTGGGCATTCGGGCTTTTGCTGACACACATTCATGTCGTGAGTTGCTAAGGATAGCAGACAAGTTCACCCAACA TAACTTTCAAGAGGTAATGGAGAGTGAAGAGTTCATGTTGCTTCCAGCCAATCAACTCATTGATATAATATCCAGTGATGAGCTAAACGT TCGCAGTGAAGAACAAGTGTTCAATGCAGTGATGGCCTGGGTCAAATACAGTATTCAGGAAAGACGTCCTCAATTACCCCAGGAGGATGT GAAAATGCTCTCCCATCTGCTCCAGGCTTTAGATTATGGGGCACCCCCTCATGGAGGAATTGCCTTAGGGTTAGACAGACTGATATGCCT TGTCACTGGATCTCCAAGCATCAGAGATGTCATAGCCTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATACCCCAGATTCTGT CCCTCCTGAGGAACTGAAGCCCTATCATATCCGAGTCTCCAAGCCAACAGACTCCAAAGCAGAAAGAGCTCATTGAATCATGCATACCAT GCAGAAAGTTGAGCTTTTAGGTTTTGTCCTCTTTGCTTCCCCAAGGCTAAAGTCAGATCTAGAGTTCTGCCACAGGTCTAACAATCAAGT CTTTAGATGGAAGGAATCCAGGCAACATTCTTCACCACAACGAAGAAACAGATAAAAGATACCCAATTTTGACTTGATTTCATGCATCAT TTGGATTTTTTTTGGTTAGGACTTTTTTTGAAGTTCCTTTTTACTTAGGTGTGAAAGATGGTTCTTTGTTGAAATAATATAGTGGTTTAG TGTTTTCAAATCATGTTTCTCATACCCAGATAGTAGATTATTCACTTAGGACAGAGGTAATCAAATTATGTGTGAAATGTAGGAAAATGC TTGCCCCTGTAAACTAGTGAGTTGATGGAGCATTTGCTTCATCATCCTCATCAAGAGAATCATATAAATTAAGCTTTATAATGACATTTC AACCATCAACATAATATAGTGAGGAGTAGCATAATATTTTTTAATAATGCAGAAAACATCACTGAAATGAGAGTCACAAATTTTTCTTCA GTGTTTCAGCCTGAGTAAGTTACATAAACCTCGCTTAGCCTCCCTTCCTGCTAATGTGTAAAATACATACTTGCCCTGGCTACCTCACCG GGCTGTTATTGCTGGAATCAGAGGAGATAACATATATGGAAGATAAAGTGAATAAAAGTACTTTGAAAAACTATAAAGCATTCCACAAAT ATGAGATGATGGTATTATCCATCCATAAATAGGTAGATATATCTCTATTTTATAGTTTCAGATTAAACAAAACTGATATCAATAGTAAAA >In-frame_ENST00000209884_ENST00000361951_TCGA-13-0897_KLHL20_chr1_173721061_+_DARS2_chr1_173825803_length(amino acids)=339AA_start in transcript=136_stop in transcript=1155 MEGKPMRRCTNIRPGETGMDVTSRCTLGDPNKLPEGVPQPARMPYISDKHPRQTLEVINLLRKHRELCDVVLVVGAKKIYAHRVILSACS PYFRAMFTGELAESRQTEVVIRDIDERAMELLIDFAYTSQITVEEGNVQTLLPAACLLQLAEIQEACCEFLKRQLDPSNCLGIRAFADTH SCRELLRIADKFTQHNFQEVMESEEFMLLPANQLIDIISSDELNVRSEEQVFNAVMAWVKYSIQERRPQLPQEDVKMLSHLLQALDYGAP -------------------------------------------------------------- >In-frame_ENST00000209884_ENST00000239457_TCGA-13-0897_KLHL20_chr1_173721061_+_DARS2_chr1_173825803_length(transcript)=1995nt_BP=892nt CTGCCTGCGTTAGCGGCGGTGGAGGAGGAGGCAGAGAGGAGTGGAGGGCGGAGTAGACGGAGGAGGCTGCTGCAGAGAAGAAAGTGTCAG AGCCGGTTCGGCTTTAGAGTGTGGTGAAGGGTACTTTTCATGGTGCATGGAAGGAAAGCCAATGCGCAGGTGTACCAACATTCGACCAGG AGAGACTGGAATGGATGTAACAAGCCGCTGCACCCTTGGAGACCCCAACAAACTGCCAGAAGGGGTTCCCCAACCTGCCCGCATGCCCTA TATCTCAGACAAGCACCCTCGACAAACCTTGGAAGTGATTAACCTTCTGAGAAAGCACCGGGAGCTATGTGATGTGGTGCTAGTTGTGGG CGCCAAGAAGATATATGCCCATCGAGTCATTTTGTCAGCCTGTAGTCCCTACTTCCGAGCTATGTTTACAGGAGAATTGGCAGAGAGCCG TCAGACAGAAGTAGTGATCCGAGACATTGACGAGAGGGCTATGGAATTACTGATTGACTTTGCGTATACCTCCCAGATAACAGTAGAAGA GGGCAATGTTCAGACTCTTCTGCCAGCTGCTTGCCTCCTCCAGCTGGCAGAAATACAGGAAGCCTGCTGTGAATTCTTAAAGAGACAATT AGATCCTTCTAACTGCCTGGGCATTCGGGCTTTTGCTGACACACATTCATGTCGTGAGTTGCTAAGGATAGCAGACAAGTTCACCCAACA TAACTTTCAAGAGGTAATGGAGAGTGAAGAGTTCATGTTGCTTCCAGCCAATCAACTCATTGATATAATATCCAGTGATGAGCTAAACGT TCGCAGTGAAGAACAAGTGTTCAATGCAGTGATGGCCTGGGTCAAATACAGTATTCAGGAAAGACGTCCTCAATTACCCCAGGAGGATGT GAAAATGCTCTCCCATCTGCTCCAGGCTTTAGATTATGGGGCACCCCCTCATGGAGGAATTGCCTTAGGGTTAGACAGACTGATATGCCT TGTCACTGGATCTCCAAGCATCAGAGATGTCATAGCCTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATACCCCAGATTCTGT CCCTCCTGAGGAACTGAAGCCCTATCATATCCGAGTCTCCAAGCCAACAGACTCCAAAGCAGAAAGAGCTCATTGAATCATGCATACCAT GCAGAAAGTTGAGCTTTTAGGTTTTGTCCTCTTTGCTTCCCCAAGGCTAAAGTCAGATCTAGAGTTCTGCCACAGGTCTAACAATCAAGT CTTTAGATGGAAGGAATCCAGGCAACATTCTTCACCACAACGAAGAAACAGATAAAAGATACCCAATTTTGACTTGATTTCATGCATCAT TTGGATTTTTTTTGGTTAGGACTTTTTTTGAAGTTCCTTTTTACTTAGGTGTGAAAGATGGTTCTTTGTTGAAATAATATAGTGGTTTAG TGTTTTCAAATCATGTTTCTCATACCCAGATAGTAGATTATTCACTTAGGACAGAGGTAATCAAATTATGTGTGAAATGTAGGAAAATGC TTGCCCCTGTAAACTAGTGAGTTGATGGAGCATTTGCTTCATCATCCTCATCAAGAGAATCATATAAATTAAGCTTTATAATGACATTTC AACCATCAACATAATATAGTGAGGAGTAGCATAATATTTTTTAATAATGCAGAAAACATCACTGAAATGAGAGTCACAAATTTTTCTTCA GTGTTTCAGCCTGAGTAAGTTACATAAACCTCGCTTAGCCTCCCTTCCTGCTAATGTGTAAAATACATACTTGCCCTGGCTACCTCACCG GGCTGTTATTGCTGGAATCAGAGGAGATAACATATATGGAAGATAAAGTGAATAAAAGTACTTTGAAAAACTATAAAGCATTCCACAAAT ATGAGATGATGGTATTATCCATCCATAAATAGGTAGATATATCTCTATTTTATAGTTTCAGATTAAACAAAACTGATATCAATAGTAAAA >In-frame_ENST00000209884_ENST00000239457_TCGA-13-0897_KLHL20_chr1_173721061_+_DARS2_chr1_173825803_length(amino acids)=339AA_start in transcript=136_stop in transcript=1155 MEGKPMRRCTNIRPGETGMDVTSRCTLGDPNKLPEGVPQPARMPYISDKHPRQTLEVINLLRKHRELCDVVLVVGAKKIYAHRVILSACS PYFRAMFTGELAESRQTEVVIRDIDERAMELLIDFAYTSQITVEEGNVQTLLPAACLLQLAEIQEACCEFLKRQLDPSNCLGIRAFADTH SCRELLRIADKFTQHNFQEVMESEEFMLLPANQLIDIISSDELNVRSEEQVFNAVMAWVKYSIQERRPQLPQEDVKMLSHLLQALDYGAP -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for KLHL20-DARS2 |
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 KLHL20-DARS2 |
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 |
Tgene | DARS2 | Q6PI48 | DB00128 | Aspartic acid | Small molecule | Approved|Nutraceutical |
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Related Diseases for KLHL20-DARS2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | DARS2 | C1970180 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |