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Translation Factor: IARS2 (NCBI Gene ID:55699) |
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Gene Summary |
Gene Information | Gene Name: IARS2 | Gene ID: 55699 | Gene Symbol | IARS2 | Gene ID | 55699 |
Gene Name | isoleucyl-tRNA synthetase 2, mitochondrial | |
Synonyms | CAGSSS|ILERS | |
Cytomap | 1q41 | |
Type of Gene | protein-coding | |
Description | isoleucine--tRNA ligase, mitochondrialisoleucine tRNA ligase 2, mitochondrialisoleucine-tRNA synthetase 2, mitochondrialisoleucyl-tRNA synthetase, mitochondrialmitochondrial isoleucine tRNA synthetase | |
Modification date | 20200313 | |
UniProtAcc | Q9NSE4 |
Child GO biological process term(s) under GO:0006412 |
GO ID | GO term |
GO:0032543 | Mitochondrial translation |
GO:0006418 | tRNA aminoacylation for protein translation |
GO:0006412 | Translation |
Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Inferred gene age of translation factor. |
Gene | Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25 |
IARS2 | >1119.25 |
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We searched PubMed using 'IARS2[title] AND translation [title] AND human.' |
Gene | Title | PMID |
IARS2 | . | . |
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Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. For more annotations, please visit our ExonSkipDB. |
Open reading frame (ORF) analsis of exon skipping events 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. |
ENST | Exon skip start (DNA) | Exon Skip end (DNA) | ORF |
ENST00000366922 | 220298578 | 220298681 | Frame-shift |
ENST00000366922 | 220300091 | 220300185 | Frame-shift |
ENST00000366922 | 220307743 | 220307852 | Frame-shift |
ENST00000366922 | 220311259 | 220311385 | In-frame |
ENST00000366922 | 220312349 | 220312481 | In-frame |
ENST00000366922 | 220316285 | 220316476 | Frame-shift |
Exon skipping position in the amino acid sequence. |
ENST | Exon skip start (DNA) | Exon Skip end (DNA) | Len(transcript seq) | Exon skip start (mRNA) | Exon Skip end (mRNA) | Len(amino acid seq) | Exon skip start (AA) | Exon Skip end (AA) |
ENST00000366922 | 220311259 | 220311385 | 3574 | 2165 | 2290 | 1012 | 611 | 653 |
ENST00000366922 | 220312349 | 220312481 | 3574 | 2291 | 2422 | 1012 | 653 | 697 |
Potentially (partially) lost protein functional features of UniProt. |
UniProtAcc | Exon skip start (AA) | Exon Skip end (AA) | Function feature start (AA) | Function feature end (AA) | Functional feature type | Functional feature desc. |
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Gene expression level across TCGA pancancer |
Gene expression level across GTEx pantissue |
Expression level of gene isoforms across TCGA pancancer |
Expression level of gene isoforms across GTEx pantissue |
Cancer(tissue) type-specific expression level of Translation factor using z-score distriution |
Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples) |
Cancer type | Translation factor | FC | adj.pval |
STAD | IARS2 | -1.36774073274524 | 0.0324882394634187 |
BRCA | IARS2 | 1.50870900515201 | 2.53632294696759e-14 |
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Translation factor expression regulation through miRNA binding |
Cancer type | Gene | miRNA | TargetScan binding score (Context++ score percentile) | Coefficient | Pvalue |
Translation factor expression regulation through methylation in the promoter of Translation factor |
Cancer type | Gene | methyl group b | methyl group a | DEG pval | avg methyl in b | avg methyl in a | avg exp in b | avg exp in a |
Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation) |
Cancer type | Gene | methyl group b | methyl group a | DEG pval | avg methyl in b | avg methyl in a | avg exp in b | avg exp in a |
Translation factor expression regulation through copy number variation of Translation factor |
Cancer type | Gene | Coefficient | Pvalue |
ESCA | IARS2 | 0.071666854 | 0.0073424 |
DLBC | IARS2 | 0.055968314 | 0.011228933 |
THCA | IARS2 | 0.454563338 | 0.028660937 |
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Strongly correlated genes belong to cellular important gene groups with IARS2 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green) |
Cancer type | Gene group | Translation factor | Correlated gene | Coefficient | Pvalue |
ACC | Epifactor | IARS2 | RBBP5 | 0.810563646 | 1.43E-19 |
CHOL | Epifactor | IARS2 | RBBP5 | 0.816325862 | 8.24E-12 |
CHOL | IUPHAR | IARS2 | ABCB10 | 0.801712075 | 3.65E-11 |
CHOL | IUPHAR | IARS2 | ADIPOR1 | 0.863115878 | 2.43E-14 |
THCA | Cell metabolism gene | IARS2 | EPRS | 0.81624843 | 6.06E-138 |
THYM | Cell metabolism gene | IARS2 | ADSS | 0.807377589 | 2.87E-29 |
THYM | Cell metabolism gene | IARS2 | TMLHE | 0.811021958 | 1.02E-29 |
THYM | Cell metabolism gene | IARS2 | MCCC2 | 0.814526685 | 3.73E-30 |
THYM | Cell metabolism gene | IARS2 | HIF1A | 0.821291249 | 4.97E-31 |
THYM | Cell metabolism gene | IARS2 | L2HGDH | 0.852143161 | 1.52E-35 |
THYM | Cell metabolism gene | IARS2 | EPRS | 0.917097134 | 9.36E-50 |
THYM | CGC | IARS2 | CDC73 | 0.800940363 | 1.68E-28 |
THYM | CGC | IARS2 | HIF1A | 0.821291249 | 4.97E-31 |
THYM | Epifactor | IARS2 | CDC73 | 0.800940363 | 1.68E-28 |
THYM | Epifactor | IARS2 | BRCC3 | 0.816514801 | 2.08E-30 |
THYM | Epifactor | IARS2 | ZNF687 | 0.850915605 | 2.40E-35 |
THYM | IUPHAR | IARS2 | RPS6KC1 | 0.814744707 | 3.50E-30 |
THYM | Kinase | IARS2 | RPS6KC1 | 0.814744707 | 3.50E-30 |
THYM | TF | IARS2 | ZBTB41 | 0.818315991 | 1.22E-30 |
THYM | TF | IARS2 | HIF1A | 0.821291249 | 4.97E-31 |
THYM | TF | IARS2 | ZNF687 | 0.850915605 | 2.40E-35 |
THYM | TSG | IARS2 | CDC73 | 0.800940363 | 1.68E-28 |
THYM | TSG | IARS2 | HIF1A | 0.821291249 | 4.97E-31 |
UCS | Cell metabolism gene | IARS2 | ADSS | 0.807377589 | 2.87E-29 |
UCS | Cell metabolism gene | IARS2 | TMLHE | 0.811021958 | 1.02E-29 |
UCS | Cell metabolism gene | IARS2 | MCCC2 | 0.814526685 | 3.73E-30 |
UCS | Cell metabolism gene | IARS2 | HIF1A | 0.821291249 | 4.97E-31 |
UCS | Cell metabolism gene | IARS2 | L2HGDH | 0.852143161 | 1.52E-35 |
UCS | Cell metabolism gene | IARS2 | EPRS | 0.917097134 | 9.36E-50 |
UCS | CGC | IARS2 | CDC73 | 0.800940363 | 1.68E-28 |
UCS | CGC | IARS2 | HIF1A | 0.821291249 | 4.97E-31 |
UCS | Epifactor | IARS2 | CDC73 | 0.800940363 | 1.68E-28 |
UCS | Epifactor | IARS2 | BRCC3 | 0.816514801 | 2.08E-30 |
UCS | Epifactor | IARS2 | ZNF687 | 0.850915605 | 2.40E-35 |
UCS | IUPHAR | IARS2 | RPS6KC1 | 0.814744707 | 3.50E-30 |
UCS | Kinase | IARS2 | RPS6KC1 | 0.814744707 | 3.50E-30 |
UCS | TF | IARS2 | ZBTB41 | 0.818315991 | 1.22E-30 |
UCS | TF | IARS2 | HIF1A | 0.821291249 | 4.97E-31 |
UCS | TF | IARS2 | ZNF687 | 0.850915605 | 2.40E-35 |
UCS | TSG | IARS2 | CDC73 | 0.800940363 | 1.68E-28 |
UCS | TSG | IARS2 | HIF1A | 0.821291249 | 4.97E-31 |
UVM | Cell metabolism gene | IARS2 | SRP54 | 0.801437501 | 4.31E-19 |
UVM | Cell metabolism gene | IARS2 | MTR | 0.8025259 | 3.56E-19 |
UVM | Cell metabolism gene | IARS2 | TNPO1 | 0.802830179 | 3.37E-19 |
UVM | Cell metabolism gene | IARS2 | EDEM3 | 0.803137835 | 3.19E-19 |
UVM | Cell metabolism gene | IARS2 | SRP72 | 0.803669404 | 2.91E-19 |
UVM | Cell metabolism gene | IARS2 | PHAX | 0.803685725 | 2.90E-19 |
UVM | Cell metabolism gene | IARS2 | METTL2B | 0.809416032 | 1.03E-19 |
UVM | Cell metabolism gene | IARS2 | NCOA2 | 0.809502026 | 1.01E-19 |
UVM | Cell metabolism gene | IARS2 | CNOT8 | 0.809982754 | 9.24E-20 |
UVM | Cell metabolism gene | IARS2 | PIP5K1A | 0.810035508 | 9.15E-20 |
UVM | Cell metabolism gene | IARS2 | HMGCR | 0.814219163 | 4.18E-20 |
UVM | Cell metabolism gene | IARS2 | XPO1 | 0.814491617 | 3.97E-20 |
UVM | Cell metabolism gene | IARS2 | PAFAH1B1 | 0.818800445 | 1.73E-20 |
UVM | Cell metabolism gene | IARS2 | PPAT | 0.821887387 | 9.43E-21 |
UVM | Cell metabolism gene | IARS2 | POLR2B | 0.823378764 | 7.00E-21 |
UVM | Cell metabolism gene | IARS2 | GPD2 | 0.823653797 | 6.63E-21 |
UVM | Cell metabolism gene | IARS2 | MED17 | 0.825468501 | 4.59E-21 |
UVM | Cell metabolism gene | IARS2 | GLUD2 | 0.827060864 | 3.32E-21 |
UVM | Cell metabolism gene | IARS2 | NUP133 | 0.83613364 | 4.87E-22 |
UVM | Cell metabolism gene | IARS2 | CLOCK | 0.838382964 | 2.97E-22 |
UVM | Cell metabolism gene | IARS2 | MED14 | 0.841444043 | 1.50E-22 |
UVM | Cell metabolism gene | IARS2 | NUP155 | 0.84183534 | 1.37E-22 |
UVM | Cell metabolism gene | IARS2 | EPRS | 0.842279732 | 1.24E-22 |
UVM | Cell metabolism gene | IARS2 | DLAT | 0.845108669 | 6.48E-23 |
UVM | Cell metabolism gene | IARS2 | PANK3 | 0.846878935 | 4.29E-23 |
UVM | Cell metabolism gene | IARS2 | PIK3C3 | 0.849838911 | 2.12E-23 |
UVM | Cell metabolism gene | IARS2 | SEC24B | 0.850817426 | 1.68E-23 |
UVM | Cell metabolism gene | IARS2 | BPNT1 | 0.851548249 | 1.41E-23 |
UVM | Cell metabolism gene | IARS2 | HMGCS1 | 0.857827677 | 2.95E-24 |
UVM | CGC | IARS2 | BIRC6 | 0.802236967 | 3.75E-19 |
UVM | CGC | IARS2 | MAP2K4 | 0.802572774 | 3.53E-19 |
UVM | CGC | IARS2 | MSH6 | 0.803112837 | 3.21E-19 |
UVM | CGC | IARS2 | HNRNPA2B1 | 0.809000467 | 1.11E-19 |
UVM | CGC | IARS2 | NCOA2 | 0.809502026 | 1.01E-19 |
UVM | CGC | IARS2 | BARD1 | 0.809583129 | 9.94E-20 |
UVM | CGC | IARS2 | NFE2L2 | 0.812794709 | 5.47E-20 |
UVM | CGC | IARS2 | FBXO11 | 0.813635466 | 4.67E-20 |
UVM | CGC | IARS2 | XPO1 | 0.814491617 | 3.97E-20 |
UVM | CGC | IARS2 | MSH2 | 0.824767187 | 5.29E-21 |
UVM | CGC | IARS2 | IL6ST | 0.83539629 | 5.71E-22 |
UVM | CGC | IARS2 | STRN | 0.84159768 | 1.45E-22 |
UVM | CGC | IARS2 | CUL3 | 0.841830919 | 1.37E-22 |
UVM | CGC | IARS2 | CDC73 | 0.877573055 | 1.28E-26 |
UVM | Epifactor | IARS2 | BRCC3 | 0.801046594 | 4.62E-19 |
UVM | Epifactor | IARS2 | MSH6 | 0.803112837 | 3.21E-19 |
UVM | Epifactor | IARS2 | MASTL | 0.803578729 | 2.95E-19 |
UVM | Epifactor | IARS2 | CUL2 | 0.804544816 | 2.48E-19 |
UVM | Epifactor | IARS2 | CTCFL | 0.805149533 | 2.23E-19 |
UVM | Epifactor | IARS2 | FAM175B | 0.807189151 | 1.54E-19 |
UVM | Epifactor | IARS2 | SMEK2 | 0.807915205 | 1.35E-19 |
UVM | Epifactor | IARS2 | NCOA2 | 0.809502026 | 1.01E-19 |
UVM | Epifactor | IARS2 | BARD1 | 0.809583129 | 9.94E-20 |
UVM | Epifactor | IARS2 | TAF1 | 0.809676852 | 9.77E-20 |
UVM | Epifactor | IARS2 | EPC1 | 0.812183919 | 6.13E-20 |
UVM | Epifactor | IARS2 | NSL1 | 0.818682592 | 1.77E-20 |
UVM | Epifactor | IARS2 | YY1 | 0.820732589 | 1.19E-20 |
UVM | Epifactor | IARS2 | TADA1 | 0.823442662 | 6.91E-21 |
UVM | Epifactor | IARS2 | PARG | 0.825943365 | 4.17E-21 |
UVM | Epifactor | IARS2 | USP12 | 0.830453365 | 1.64E-21 |
UVM | Epifactor | IARS2 | RBBP5 | 0.83257894 | 1.05E-21 |
UVM | Epifactor | IARS2 | CLOCK | 0.838382964 | 2.97E-22 |
UVM | Epifactor | IARS2 | CUL3 | 0.841830919 | 1.37E-22 |
UVM | Epifactor | IARS2 | ZRANB3 | 0.846350331 | 4.85E-23 |
UVM | Epifactor | IARS2 | DDX21 | 0.849176277 | 2.49E-23 |
UVM | Epifactor | IARS2 | ATF2 | 0.856276902 | 4.37E-24 |
UVM | Epifactor | IARS2 | HAT1 | 0.857563776 | 3.16E-24 |
UVM | Epifactor | IARS2 | CDC73 | 0.877573055 | 1.28E-26 |
UVM | Epifactor | IARS2 | UCHL5 | 0.878396966 | 9.99E-27 |
UVM | IUPHAR | IARS2 | HIPK3 | 0.800411615 | 5.16E-19 |
UVM | IUPHAR | IARS2 | SRPK2 | 0.800593849 | 5.00E-19 |
UVM | IUPHAR | IARS2 | SCYL2 | 0.800865234 | 4.77E-19 |
UVM | IUPHAR | IARS2 | BIRC6 | 0.802236967 | 3.75E-19 |
UVM | IUPHAR | IARS2 | MTR | 0.8025259 | 3.56E-19 |
UVM | IUPHAR | IARS2 | MAP2K4 | 0.802572774 | 3.53E-19 |
UVM | IUPHAR | IARS2 | MASTL | 0.803578729 | 2.95E-19 |
UVM | IUPHAR | IARS2 | TAOK1 | 0.805124188 | 2.24E-19 |
UVM | IUPHAR | IARS2 | MAGT1 | 0.806069624 | 1.89E-19 |
UVM | IUPHAR | IARS2 | SLC35E3 | 0.808225245 | 1.28E-19 |
UVM | IUPHAR | IARS2 | NPEPPS | 0.808465538 | 1.22E-19 |
UVM | IUPHAR | IARS2 | RPS6KC1 | 0.808842544 | 1.14E-19 |
UVM | IUPHAR | IARS2 | NCOA2 | 0.809502026 | 1.01E-19 |
UVM | IUPHAR | IARS2 | TAF1 | 0.809676852 | 9.77E-20 |
UVM | IUPHAR | IARS2 | PIP5K1A | 0.810035508 | 9.15E-20 |
UVM | IUPHAR | IARS2 | SLC30A5 | 0.810408053 | 8.54E-20 |
UVM | IUPHAR | IARS2 | NFE2L2 | 0.812794709 | 5.47E-20 |
UVM | IUPHAR | IARS2 | FBXO11 | 0.813635466 | 4.67E-20 |
UVM | IUPHAR | IARS2 | HMGCR | 0.814219163 | 4.18E-20 |
UVM | IUPHAR | IARS2 | XPO1 | 0.814491617 | 3.97E-20 |
UVM | IUPHAR | IARS2 | ABCB10 | 0.820039751 | 1.36E-20 |
UVM | IUPHAR | IARS2 | ADAM10 | 0.820622976 | 1.21E-20 |
UVM | IUPHAR | IARS2 | PPAT | 0.821887387 | 9.43E-21 |
UVM | IUPHAR | IARS2 | SLC30A6 | 0.823547631 | 6.77E-21 |
UVM | IUPHAR | IARS2 | PRMT3 | 0.826007951 | 4.11E-21 |
UVM | IUPHAR | IARS2 | EGLN1 | 0.832188356 | 1.14E-21 |
UVM | IUPHAR | IARS2 | VRK2 | 0.832554852 | 1.05E-21 |
UVM | IUPHAR | IARS2 | IL6ST | 0.83539629 | 5.71E-22 |
UVM | IUPHAR | IARS2 | CLOCK | 0.838382964 | 2.97E-22 |
UVM | IUPHAR | IARS2 | USP14 | 0.839803415 | 2.17E-22 |
UVM | IUPHAR | IARS2 | PIK3C3 | 0.849838911 | 2.12E-23 |
UVM | IUPHAR | IARS2 | HAT1 | 0.857563776 | 3.16E-24 |
UVM | IUPHAR | IARS2 | HMGCS1 | 0.857827677 | 2.95E-24 |
UVM | IUPHAR | IARS2 | ADAM17 | 0.870034964 | 1.13E-25 |
UVM | IUPHAR | IARS2 | IDE | 0.872263354 | 6.04E-26 |
UVM | Kinase | IARS2 | HIPK3 | 0.800411615 | 5.16E-19 |
UVM | Kinase | IARS2 | SRPK2 | 0.800593849 | 5.00E-19 |
UVM | Kinase | IARS2 | SCYL2 | 0.800865234 | 4.77E-19 |
UVM | Kinase | IARS2 | MAP2K4 | 0.802572774 | 3.53E-19 |
UVM | Kinase | IARS2 | MASTL | 0.803578729 | 2.95E-19 |
UVM | Kinase | IARS2 | TAOK1 | 0.805124188 | 2.24E-19 |
UVM | Kinase | IARS2 | RPS6KC1 | 0.808842544 | 1.14E-19 |
UVM | Kinase | IARS2 | TAF1 | 0.809676852 | 9.77E-20 |
UVM | Kinase | IARS2 | VRK2 | 0.832554852 | 1.05E-21 |
UVM | Kinase | IARS2 | SCYL3 | 0.838862138 | 2.67E-22 |
UVM | TF | IARS2 | CEBPZ | 0.801971336 | 3.93E-19 |
UVM | TF | IARS2 | BACH1 | 0.802530586 | 3.56E-19 |
UVM | TF | IARS2 | PRDM10 | 0.804067326 | 2.71E-19 |
UVM | TF | IARS2 | CTCFL | 0.805149533 | 2.23E-19 |
UVM | TF | IARS2 | ZNF236 | 0.806646498 | 1.70E-19 |
UVM | TF | IARS2 | NCOA2 | 0.809502026 | 1.01E-19 |
UVM | TF | IARS2 | NFE2L2 | 0.812794709 | 5.47E-20 |
UVM | TF | IARS2 | ELK3 | 0.812962893 | 5.30E-20 |
UVM | TF | IARS2 | ZNF430 | 0.813296026 | 4.97E-20 |
UVM | TF | IARS2 | ETV3 | 0.81344053 | 4.84E-20 |
UVM | TF | IARS2 | ZNF45 | 0.81846261 | 1.85E-20 |
UVM | TF | IARS2 | YY1 | 0.820732589 | 1.19E-20 |
UVM | TF | IARS2 | SP3 | 0.821436059 | 1.03E-20 |
UVM | TF | IARS2 | ZNF800 | 0.824411007 | 5.69E-21 |
UVM | TF | IARS2 | AHCTF1 | 0.825621097 | 4.45E-21 |
UVM | TF | IARS2 | PRMT3 | 0.826007951 | 4.11E-21 |
UVM | TF | IARS2 | ELF1 | 0.836274929 | 4.72E-22 |
UVM | TF | IARS2 | CLOCK | 0.838382964 | 2.97E-22 |
UVM | TF | IARS2 | ZNF791 | 0.839439442 | 2.35E-22 |
UVM | TF | IARS2 | ADNP2 | 0.841118771 | 1.61E-22 |
UVM | TF | IARS2 | ATF6 | 0.843914658 | 8.53E-23 |
UVM | TF | IARS2 | ZNF678 | 0.847611876 | 3.61E-23 |
UVM | TF | IARS2 | ATF2 | 0.856276902 | 4.37E-24 |
UVM | TF | IARS2 | ZFP91 | 0.860123103 | 1.64E-24 |
UVM | TF | IARS2 | ZNF281 | 0.866503382 | 3.01E-25 |
UVM | TSG | IARS2 | MAP2K4 | 0.802572774 | 3.53E-19 |
UVM | TSG | IARS2 | SMCHD1 | 0.80431663 | 2.59E-19 |
UVM | TSG | IARS2 | CUL2 | 0.804544816 | 2.48E-19 |
UVM | TSG | IARS2 | CTCFL | 0.805149533 | 2.23E-19 |
UVM | TSG | IARS2 | BARD1 | 0.809583129 | 9.94E-20 |
UVM | TSG | IARS2 | PAFAH1B1 | 0.818800445 | 1.73E-20 |
UVM | TSG | IARS2 | GGNBP2 | 0.819775895 | 1.43E-20 |
UVM | TSG | IARS2 | MSH2 | 0.824767187 | 5.29E-21 |
UVM | TSG | IARS2 | USP12 | 0.830453365 | 1.64E-21 |
UVM | TSG | IARS2 | EGLN1 | 0.832188356 | 1.14E-21 |
UVM | TSG | IARS2 | TP53BP2 | 0.848365302 | 3.02E-23 |
UVM | TSG | IARS2 | CDC73 | 0.877573055 | 1.28E-26 |
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Protein 3D structure Visit iCn3D. |
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Protein-protein interaction networks * Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P)) |
Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P)) |
* Edge colors based on TCGA cancer types. |
* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P)) |
Cancer type | Translation factor | Interacting protein coding gene | FC | adj.pval |
STAD | IARS2 | YARS | -6.49411565641968 | 0.000280400272458792 |
KIRP | IARS2 | EARS2 | 2.04485161641576 | 0.000364991836249828 |
BRCA | IARS2 | QARS | -4.19270554058168 | 0.00045278023754438 |
KIRP | IARS2 | PARS2 | 1.16452168188224 | 0.000471815001219511 |
LUSC | IARS2 | LARS | -1.72121981954749 | 0.000480107205471704 |
HNSC | IARS2 | YARS | 1.29642872422682 | 0.000481783007217019 |
STAD | IARS2 | AARS | -1.37044043826934 | 0.000657554250210524 |
STAD | IARS2 | EPRS | -1.48171581324647 | 0.000789262883452143 |
THCA | IARS2 | QARS | -1.4601543520666 | 0.00171161769998529 |
BLCA | IARS2 | PARS2 | -2.53947468245316 | 0.002838134765625 |
STAD | IARS2 | CARS | -3.1134898215181 | 0.0194480954669416 |
PRAD | IARS2 | PARS2 | -1.46158282673459 | 0.0436765184075403 |
PRAD | IARS2 | CARS2 | 1.13713373330258 | 0.0476188245531179 |
BRCA | IARS2 | CARS | -3.12549590231492 | 1.01520616166893e-06 |
LUAD | IARS2 | PARS2 | -3.49187010929807 | 1.06715530949094e-10 |
LIHC | IARS2 | LARS | -1.57612943170265 | 1.09871251804152e-08 |
LUAD | IARS2 | LARS | -1.89171706205171 | 1.25525807323939e-06 |
THCA | IARS2 | YARS | -1.52851760350795 | 1.38467683131598e-09 |
KIRC | IARS2 | CARS | -2.26215465257439 | 1.77517968413055e-12 |
KIRP | IARS2 | CARS | -1.01391921700556 | 2.26888805627823e-05 |
LIHC | IARS2 | EPRS | -7.10731017811505 | 2.28054594243154e-08 |
KICH | IARS2 | YARS | -2.00632816869948 | 2.98023223876953e-07 |
LUSC | IARS2 | PARS2 | -2.93653902690081 | 3.1117120779415e-08 |
LUSC | IARS2 | EARS2 | -4.79437223180067 | 3.23227619897643e-09 |
PRAD | IARS2 | QARS | 1.84374784424986 | 3.33417295851411e-06 |
BRCA | IARS2 | YARS | -2.58863291399932 | 3.63754942015711e-21 |
LUAD | IARS2 | EARS2 | -4.660053370012 | 3.79251210274868e-11 |
BLCA | IARS2 | EARS2 | -4.74352280775662 | 3.814697265625e-06 |
STAD | IARS2 | EARS2 | -1.69983591205674 | 4.39747236669064e-05 |
LUAD | IARS2 | AARS | -6.1139400689607 | 4.40386642176516e-08 |
LUAD | IARS2 | CARS | -3.85793909283937 | 5.54313496971022e-09 |
PRAD | IARS2 | EPRS | -1.76339127457265 | 9.52775218277559e-05 |
STAD | IARS2 | NARS2 | -1.47625969382721 | 9.99853946268559e-05 |
Protein-protein interactors with this translation factor (BIOGRID-3.4.160) |
PPI interactors with IARS2 |
SIRT7, APP, MTHFD1, ILF2, MATR3, ILF3, CDH2, TUFM, JUP, PPT2, CALU, HSP90AA1, HSP90AB1, YWHAQ, HSFX1, TMEM25, HSPB1, GRSF1, HNRNPH1, HNRNPH2, HNRNPH3, HYAL4, NTRK1, KRAS, POC5, ECSIT, RNASEH2A, CHORDC1, UGGT1, PARD6B, KLC4, WDR62, Bub1b, Nek2, Papss1, Cul1, Iqgap3, FOXS1, RNF126, ASB8, EPHA4, DDX11, GAK, CELF5, STAT2, ESPL1, ASPM, MBNL1, TMEM70, MTO1, SMG8, NDUFS7, YBEY, DHX40, BBS1, FANCA, EPHA7, IFT122, MRPL21, ACSM5, SOCS6, AGR2, AIFM1, MRM1, SCO1, HSPD1, PDK1, TOMM20, COX14, SFXN1, MGST3, COX4I1, TRMT61B, PLGRKT, PTRH2, AURKAIP1, GBF1, HOOK3, AARS2, ALDH1B1, ALDH2, CAPNS1, DIABLO, FH, GRPEL1, PAFAH2, PFDN4, QPRT, RAD23A, UBA1, VBP1, YWHAE, YWHAG, YWHAH, IRF2, BCL2L14, NT5C3A, TNFRSF10A, GSK3B, BIRC3, TRIM28, PLEKHA4, PINK1, ORF8b, RAF1, SNRPA, ATRX, HTRA2, LACTB, OMA1, PARL, IMMP1L, IMMP2L, ERCC6, HSCB, LZTS2, UNK, RBM47, CHMP4C, KIF14, ACAD9, AUH, C12orf65, C17orf80, C1QBP, C21orf33, C6orf203, C8orf82, MCUR1, CCDC90B, CHCHD1, CLPB, COX15, CRYZ, CS, DHX30, FASTKD2, FASTKD3, FASTKD5, GFM1, GFM2, HINT2, ICT1, LONP1, LRPPRC, MCU, CCDC109B, MDH2, METTL15, METTL17, MRPL11, MRPS12, MRPS26, MRRF, MTERF3, MTFMT, MTG1, MTG2, MTIF2, MTIF3, MTRF1, MTRF1L, NGRN, OTC, PMPCA, PMPCB, RMND1, RPUSD3, RPUSD4, SLIRP, SSBP1, SURF1, TACO1, TBRG4, TEFM, TFAM, TRUB2, TSFM, VWA8, EXD2, CLPP, INS, Apc2, DNAJA2, DNAJA3, DNAJC15, DNAJC19, DNAJC28, DRG2, DNAJC30, DNAJC4, DNAJC7, HSPA9, UFL1, TP53, ACTR3, AKAP1, ARF6, ATG12, CLIP1, COX8A, DCTN2, DERL1, FLOT1, GFAP, GJA1, HSD17B11, LAMTOR1, MAPRE3, PANX1, PDHA1, PEX3, PHB2, PRPH, SQSTM1, TRAP1, ATG7, ATG10, NAA40, MALSU1, PFDN5, UQCRFS1, NAA38, DNA2, YARS2, SPRTN, nsp6, nsp9, ORF3a, |
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Clinically associated variants from ClinVar. |
Gene | Chr | Position | RefSeq | VarSeq | RefSeeq | VarType | Pathogenic | Disease | VarInfo |
IARS2 | chr1 | 220267238 | TA | T | Deletion | Benign | not_provided | ||
IARS2 | chr1 | 220267238 | TAA | T | Deletion | Benign | not_provided | ||
IARS2 | chr1 | 220267238 | TAAA | T | Deletion | Benign | not_provided | ||
IARS2 | chr1 | 220267247 | AAAAAT | A | Deletion | Likely_benign | not_provided | ||
IARS2 | chr1 | 220267248 | A | T | single_nucleotide_variant | Likely_benign | not_provided | ||
IARS2 | chr1 | 220267248 | AAAAT | A | Deletion | Benign | not_provided | ||
IARS2 | chr1 | 220267249 | AAAT | A | Deletion | Benign | not_provided | ||
IARS2 | chr1 | 220267250 | A | T | single_nucleotide_variant | Benign | not_provided | ||
IARS2 | chr1 | 220267250 | AAT | A | Microsatellite | Likely_benign | not_provided | ||
IARS2 | chr1 | 220267251 | AT | A | Deletion | Benign | not_provided | ||
IARS2 | chr1 | 220267251 | ATAT | A | Deletion | Benign | not_provided | ||
IARS2 | chr1 | 220267253 | AT | A | Deletion | Benign | not_provided | ||
IARS2 | chr1 | 220267254 | T | A | single_nucleotide_variant | Likely_benign | not_provided | ||
IARS2 | chr1 | 220267431 | T | A | single_nucleotide_variant | Likely_benign | not_provided | ||
IARS2 | chr1 | 220267524 | G | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
IARS2 | chr1 | 220267581 | G | T | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220267599 | C | T | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220267613 | C | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001587|nonsense | SO:0001587|nonsense |
IARS2 | chr1 | 220267669 | G | C | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220267695 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220267783 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220267786 | G | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220267830 | G | C | single_nucleotide_variant | Benign/Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220267833 | C | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220267835 | C | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220269438 | T | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220269438 | TA | T | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220269439 | A | T | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220269478 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220269575 | A | G | single_nucleotide_variant | Benign/Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220269578 | A | G | single_nucleotide_variant | Benign/Likely_benign | not_specified|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220269800 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220273564 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220273719 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220273894 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220273933 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220274001 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220275166 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220275170 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220275174 | C | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220275378 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220275460 | CT | C | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220275521 | C | T | single_nucleotide_variant | Uncertain_significance | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220275556 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220275600 | T | C | single_nucleotide_variant | Pathogenic | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220275613 | T | A | single_nucleotide_variant | Uncertain_significance | Inborn_genetic_diseases | SO:0001587|nonsense | SO:0001587|nonsense |
IARS2 | chr1 | 220275630 | A | AT | Duplication | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220275694 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220275746 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220275754 | G | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220275887 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220276035 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220276111 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220276304 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220276333 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220276350 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220276789 | G | A | single_nucleotide_variant | Uncertain_significance | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220276828 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220276854 | C | T | single_nucleotide_variant | Uncertain_significance | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220276858 | T | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220276876 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220276881 | T | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220276895 | A | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220277095 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220278938 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220278970 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220279317 | T | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220279330 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220279332 | G | C | single_nucleotide_variant | Uncertain_significance | Developmental_cataract | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220279381 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220280189 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220280421 | G | A | single_nucleotide_variant | Uncertain_significance | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220283930 | A | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220284110 | G | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220284112 | G | GT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220284112 | GT | G | Deletion | Benign | not_specified|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220284142 | C | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001587|nonsense | SO:0001587|nonsense |
IARS2 | chr1 | 220284391 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220287350 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220287461 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220287680 | A | C | single_nucleotide_variant | Uncertain_significance | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220287725 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220287730 | A | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220287740 | A | G | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220287914 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220288080 | CA | C | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220288100 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220298627 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220298664 | A | G | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220300035 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220300118 | T | C | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220300157 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220300169 | G | A | single_nucleotide_variant | Uncertain_significance | Leigh_syndrome|Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia|not_provided | SO:0001587|nonsense | SO:0001587|nonsense |
IARS2 | chr1 | 220300212 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220307676 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220307849 | A | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220307849 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220308110 | G | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220308110 | GT | G | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220308139 | G | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220309800 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220310130 | AT | A | Deletion | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220310347 | A | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220311182 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220311283 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220311313 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220311332 | G | A | single_nucleotide_variant | Likely_benign | Leigh_syndrome|Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia|not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220311338 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220311386 | G | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001575|splice_donor_variant | SO:0001575|splice_donor_variant |
IARS2 | chr1 | 220312061 | A | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220312303 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220312440 | G | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220312456 | A | G | single_nucleotide_variant | Pathogenic | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220312495 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220312633 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220313533 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220313715 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220313816 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220313853 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220314945 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220314976 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220315171 | C | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220315180 | G | A | single_nucleotide_variant | Pathogenic | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220316345 | G | A | single_nucleotide_variant | Pathogenic | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220316371 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220316416 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220316427 | A | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220316450 | C | T | single_nucleotide_variant | Pathogenic | Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220316451 | C | T | single_nucleotide_variant | Pathogenic | Cataract|Peripheral_neuropathy|Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia|growth_hormone_deficiency_with_short_stature|partial_sensorineural_deafness | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220318522 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220318582 | G | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220318764 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220318880 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220318903 | T | C | single_nucleotide_variant | Uncertain_significance | Inborn_genetic_diseases | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220319007 | A | G | single_nucleotide_variant | Benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220319109 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220319110 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220319156 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220319301 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220320541 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220320623 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220320820 | T | C | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220320823 | A | AT | Duplication | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
IARS2 | chr1 | 220320887 | G | GAAAGAAA | Duplication | Uncertain_significance | not_provided | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
IARS2 | chr1 | 220320914 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
IARS2 | chr1 | 220320957 | G | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
IARS2 | chr1 | 220321023 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
nsSNVs with sample frequency (size of circle) from TCGA 33 cancers. |
SNVs and Indels |
Gene | Cancer type | Chromosome | Start | End | RefSeeq | MutSeq | Mutation type | AAchange | # samples |
IARS2 | SKCM | chr1 | 220315224 | 220315224 | C | T | Missense_Mutation | p.R760C | 6 |
IARS2 | LIHC | chr1 | 220280458 | 220280458 | A | - | Frame_Shift_Del | p.Q359fs | 4 |
IARS2 | COAD | chr1 | 220273854 | 220273854 | G | A | Missense_Mutation | p.R138Q | 4 |
IARS2 | BRCA | chr1 | 220269535 | 220269535 | C | T | Silent | p.N119 | 4 |
IARS2 | STAD | chr1 | 220284129 | 220284129 | T | A | Silent | 3 | |
IARS2 | KIRP | chr1 | 220311360 | 220311360 | A | G | Missense_Mutation | p.N717S | 3 |
IARS2 | UCEC | chr1 | 220320921 | 220320921 | G | A | Missense_Mutation | p.A995T | 3 |
IARS2 | LUAD | chr1 | 220311269 | 220311269 | A | G | Missense_Mutation | p.K615E | 3 |
IARS2 | UCEC | chr1 | 220276800 | 220276800 | T | A | Missense_Mutation | p.V321E | 3 |
IARS2 | STAD | chr1 | 220284281 | 220284281 | T | C | Splice_Site | 3 | |
IARS2 | UCEC | chr1 | 220316370 | 220316370 | C | T | Missense_Mutation | p.A882V | 3 |
IARS2 | SKCM | chr1 | 220267642 | 220267642 | C | T | Silent | p.P28P | 3 |
IARS2 | BRCA | chr1 | 220307827 | 220307827 | G | T | Missense_Mutation | p.A641S | 3 |
IARS2 | BRCA | chr1 | 220316439 | 220316439 | C | A | Missense_Mutation | p.T905N | 3 |
IARS2 | UCEC | chr1 | 220269519 | 220269519 | G | A | Missense_Mutation | p.G114E | 3 |
IARS2 | LIHC | chr1 | 220279293 | 220279293 | T | - | Frame_Shift_Del | p.L305fs | 3 |
IARS2 | CESC | chr1 | 220269471 | 220269471 | C | T | Missense_Mutation | 2 | |
IARS2 | STAD | chr1 | 220284129 | 220284129 | T | A | Splice_Site | p.V371_splice | 2 |
IARS2 | UCEC | chr1 | 220315228 | 220315228 | C | A | Missense_Mutation | p.S833Y | 2 |
IARS2 | BLCA | chr1 | 220275521 | 220275521 | C | A | Missense_Mutation | 2 | |
IARS2 | STAD | chr1 | 220313568 | 220313568 | G | C | Missense_Mutation | p.R784P | 2 |
IARS2 | UCEC | chr1 | 220269471 | 220269471 | C | A | Nonsense_Mutation | p.S98* | 2 |
IARS2 | LIHC | chr1 | 220276901 | 220276901 | T | A | Missense_Mutation | 2 | |
IARS2 | CESC | chr1 | 220311328 | 220311328 | C | T | Silent | 2 | |
IARS2 | UCEC | chr1 | 220316345 | 220316345 | G | A | Missense_Mutation | p.G874R | 2 |
IARS2 | LIHC | chr1 | 220284249 | 220284249 | A | - | Frame_Shift_Del | p.I411fs | 2 |
IARS2 | SKCM | chr1 | 220284190 | 220284190 | C | T | Missense_Mutation | p.P392S | 2 |
IARS2 | COAD | chr1 | 220267581 | 220267581 | G | T | Missense_Mutation | p.R8L | 2 |
IARS2 | STAD | chr1 | 220279373 | 220279373 | G | A | Missense_Mutation | p.G403S | 2 |
IARS2 | UCEC | chr1 | 220273983 | 220273983 | G | T | Missense_Mutation | p.R181I | 2 |
IARS2 | STAD | chr1 | 220276857 | 220276857 | T | C | Missense_Mutation | 2 | |
IARS2 | UCEC | chr1 | 220316379 | 220316379 | T | C | Missense_Mutation | p.M885T | 2 |
IARS2 | LIHC | chr1 | 220310210 | 220310210 | T | - | Frame_Shift_Del | p.L597fs | 2 |
IARS2 | STAD | chr1 | 220275602 | 220275602 | T | C | Missense_Mutation | p.Y228H | 2 |
IARS2 | UCEC | chr1 | 220275516 | 220275516 | T | G | Missense_Mutation | p.F199C | 2 |
IARS2 | SKCM | chr1 | 220315224 | 220315224 | C | T | Missense_Mutation | p.R832C | 2 |
IARS2 | UCEC | chr1 | 220318939 | 220318942 | GAGA | - | Frame_Shift_Del | p.E948fs | 2 |
IARS2 | STAD | chr1 | 220315249 | 220315249 | A | G | Missense_Mutation | p.H840R | 2 |
IARS2 | UCEC | chr1 | 220275521 | 220275521 | C | T | Missense_Mutation | p.R201C | 2 |
IARS2 | SKCM | chr1 | 220284190 | 220284190 | C | T | Missense_Mutation | p.P464S | 2 |
IARS2 | UCEC | chr1 | 220318962 | 220318962 | G | A | Missense_Mutation | p.E955K | 2 |
IARS2 | STAD | chr1 | 220279257 | 220279257 | G | A | Missense_Mutation | p.C364Y | 2 |
IARS2 | UCEC | chr1 | 220279392 | 220279392 | A | G | Missense_Mutation | p.N409S | 2 |
IARS2 | UCEC | chr1 | 220320949 | 220320949 | G | A | Missense_Mutation | p.R1004Q | 2 |
IARS2 | LUAD | chr1 | 220287726 | 220287726 | G | C | Missense_Mutation | p.R445P | 2 |
IARS2 | SARC | chr1 | 220273947 | 220273947 | G | T | Missense_Mutation | 2 | |
IARS2 | ESCA | chr1 | 220279397 | 220279397 | C | T | Missense_Mutation | p.P411S | 2 |
IARS2 | STAD | chr1 | 220320847 | 220320847 | G | T | Missense_Mutation | p.R970L | 2 |
IARS2 | UCEC | chr1 | 220279397 | 220279397 | C | - | Frame_Shift_Del | p.M412fs | 2 |
IARS2 | BLCA | chr1 | 220318850 | 220318850 | G | C | Splice_Site | 2 | |
IARS2 | STAD | chr1 | 220298662 | 220298662 | C | G | Missense_Mutation | p.P575R | 2 |
IARS2 | UCEC | chr1 | 220284258 | 220284258 | G | A | Silent | p.T486 | 2 |
IARS2 | PRAD | chr1 | 220273972 | 220273972 | T | C | Silent | p.A105A | 2 |
IARS2 | STAD | chr1 | 220311323 | 220311323 | G | T | Missense_Mutation | p.V705F | 2 |
IARS2 | UCEC | chr1 | 220311314 | 220311314 | G | A | Missense_Mutation | p.D702N | 2 |
IARS2 | KIRC | chr1 | 220316404 | 220316404 | C | T | Silent | p.I893I | 2 |
IARS2 | UCS | chr1 | 220287663 | 220287664 | - | A | Frame_Shift_Ins | p.*424fs | 2 |
IARS2 | SKCM | chr1 | 220307845 | 220307845 | C | T | Missense_Mutation | p.P575S | 2 |
IARS2 | CESC | chr1 | 220320875 | 220320875 | C | A | Silent | 2 | |
IARS2 | STAD | chr1 | 220300109 | 220300109 | C | A | Silent | p.A587A | 2 |
IARS2 | UCEC | chr1 | 220311381 | 220311381 | G | A | Missense_Mutation | p.S724N | 2 |
IARS2 | BLCA | chr1 | 220267580 | 220267580 | C | T | Missense_Mutation | p.R8C | 2 |
IARS2 | CESC | chr1 | 220275594 | 220275594 | G | C | Missense_Mutation | 2 | |
IARS2 | UCEC | chr1 | 220313567 | 220313567 | C | T | Missense_Mutation | p.R784W | 2 |
IARS2 | STAD | chr1 | 220280450 | 220280450 | T | C | Silent | 2 | |
IARS2 | LUSC | chr1 | 220310241 | 220310241 | T | C | Silent | p.V679V | 1 |
IARS2 | SKCM | chr1 | 220275523 | 220275523 | T | C | Silent | p.R129R | 1 |
IARS2 | HNSC | chr1 | 220279318 | 220279318 | G | T | Missense_Mutation | 1 | |
IARS2 | LUAD | chr1 | 220287811 | 220287811 | C | G | Missense_Mutation | p.I545M | 1 |
IARS2 | KIRC | chr1 | 220318982 | 220318982 | C | T | Silent | p.L889L | 1 |
IARS2 | LIHC | chr1 | 220284244 | 220284244 | T | - | Frame_Shift_Del | p.F410fs | 1 |
IARS2 | SARC | chr1 | 220300099 | 220300099 | G | T | Missense_Mutation | 1 | |
IARS2 | SKCM | chr1 | 220316323 | 220316323 | T | A | Silent | p.T794T | 1 |
IARS2 | CESC | chr1 | 220320875 | 220320875 | C | A | Silent | p.V979 | 1 |
IARS2 | THYM | chr1 | 220298625 | 220298625 | G | T | Missense_Mutation | p.D563Y | 1 |
IARS2 | LUAD | chr1 | 220310248 | 220310248 | G | T | Nonsense_Mutation | p.G610* | 1 |
IARS2 | SKCM | chr1 | 220275523 | 220275523 | T | C | Silent | p.R201R | 1 |
IARS2 | BLCA | chr1 | 220273958 | 220273958 | C | G | Missense_Mutation | p.Q101E | 1 |
IARS2 | COAD | chr1 | 220310239 | 220310239 | G | A | Missense_Mutation | p.V679I | 1 |
IARS2 | LUSC | chr1 | 220275535 | 220275535 | G | T | Missense_Mutation | p.M205I | 1 |
IARS2 | SKCM | chr1 | 220284153 | 220284153 | G | T | Missense_Mutation | p.K379N | 1 |
IARS2 | HNSC | chr1 | 220298619 | 220298619 | G | A | Missense_Mutation | 1 | |
IARS2 | STAD | chr1 | 220276857 | 220276857 | T | C | Missense_Mutation | p.V268A | 1 |
IARS2 | LUAD | chr1 | 220269552 | 220269552 | G | T | Missense_Mutation | p.G125V | 1 |
IARS2 | LIHC | chr1 | 220300135 | 220300135 | T | - | Frame_Shift_Del | p.I524fs | 1 |
IARS2 | SARC | chr1 | 220311345 | 220311345 | G | T | Missense_Mutation | 1 | |
IARS2 | BLCA | chr1 | 220273958 | 220273958 | C | G | Missense_Mutation | 1 | |
IARS2 | LIHC | chr1 | 220311292 | 220311292 | T | C | Silent | 1 | |
IARS2 | LUAD | chr1 | 220269552 | 220269552 | G | T | Missense_Mutation | p.G53V | 1 |
IARS2 | SKCM | chr1 | 220284226 | 220284226 | C | T | Missense_Mutation | p.R476C | 1 |
IARS2 | BLCA | chr1 | 220269486 | 220269486 | G | C | Missense_Mutation | p.R31T | 1 |
IARS2 | COAD | chr1 | 220311332 | 220311332 | G | A | Missense_Mutation | p.E708K | 1 |
IARS2 | LUSC | chr1 | 220287687 | 220287687 | G | T | Missense_Mutation | p.G504V | 1 |
IARS2 | SKCM | chr1 | 220312443 | 220312443 | C | A | Missense_Mutation | p.Q685K | 1 |
IARS2 | CESC | chr1 | 220284144 | 220284144 | G | A | Silent | 1 | |
IARS2 | STAD | chr1 | 220275596 | 220275596 | A | C | Missense_Mutation | p.T154P | 1 |
IARS2 | LUSC | chr1 | 220276788 | 220276788 | G | T | Splice_Site | p.K317_splice | 1 |
IARS2 | KIRP | chr1 | 220316411 | 220316411 | A | - | Frame_Shift_Del | p.G895fs | 1 |
IARS2 | LIHC | chr1 | 220320899 | 220320899 | C | - | Frame_Shift_Del | p.C915fs | 1 |
IARS2 | SARC | chr1 | 220276895 | 220276895 | A | G | Missense_Mutation | 1 | |
IARS2 | SKCM | chr1 | 220284191 | 220284191 | C | T | Missense_Mutation | p.P392L | 1 |
IARS2 | BLCA | chr1 | 220310186 | 220310186 | A | G | Missense_Mutation | 1 | |
IARS2 | UCEC | chr1 | 220310161 | 220310161 | G | T | Missense_Mutation | p.V653F | 1 |
IARS2 | BLCA | chr1 | 220311374 | 220311374 | G | A | Missense_Mutation | p.D650N | 1 |
IARS2 | COAD | chr1 | 220311371 | 220311373 | GAT | - | In_Frame_Del | p.720_721del | 1 |
IARS2 | LIHC | chr1 | 220307815 | 220307816 | TT | - | Frame_Shift_Del | p.636_637del | 1 |
IARS2 | LUAD | chr1 | 220275470 | 220275470 | G | T | Splice_Site | 1 | |
IARS2 | STAD | chr1 | 220275603 | 220275604 | AC | - | Frame_Shift_Del | 1 | |
IARS2 | LIHC | chr1 | 220316336 | 220316336 | A | - | Frame_Shift_Del | p.K800fs | 1 |
IARS2 | LUSC | chr1 | 220315157 | 220315157 | A | G | Silent | p.E809E | 1 |
IARS2 | OV | chr1 | 218377959 | 218377959 | T | A | Missense_Mutation | 1 | |
IARS2 | SKCM | chr1 | 220267774 | 220267774 | C | T | Silent | p.P72P | 1 |
IARS2 | CESC | chr1 | 220269459 | 220269459 | C | A | Nonsense_Mutation | p.S22* | 1 |
IARS2 | STAD | chr1 | 220275603 | 220275604 | AC | - | Frame_Shift_Del | p.Y156fs | 1 |
IARS2 | KIRP | chr1 | 220267813 | 220267813 | G | T | Silent | p.L85L | 1 |
IARS2 | LUAD | chr1 | 220307776 | 220307776 | G | T | Nonsense_Mutation | p.G552* | 1 |
IARS2 | SARC | chr1 | 220315225 | 220315225 | G | T | Missense_Mutation | 1 | |
IARS2 | SKCM | chr1 | 220284226 | 220284226 | C | T | Missense_Mutation | p.R404C | 1 |
IARS2 | BLCA | chr1 | 220269486 | 220269486 | G | C | Missense_Mutation | 1 | |
IARS2 | COAD | chr1 | 220275480 | 220275480 | T | C | Missense_Mutation | p.F187S | 1 |
IARS2 | UCEC | chr1 | 220284258 | 220284258 | G | A | Silent | p.T486T | 1 |
IARS2 | BLCA | chr1 | 220276871 | 220276871 | G | A | Missense_Mutation | p.E345K | 1 |
IARS2 | COAD | chr1 | 220320922 | 220320922 | C | T | Missense_Mutation | p.A995V | 1 |
IARS2 | LIHC | chr1 | 220273982 | 220273985 | AGAA | - | Frame_Shift_Del | p.180_181del | 1 |
IARS2 | LUAD | chr1 | 220307795 | 220307795 | G | T | Missense_Mutation | p.G558V | 1 |
IARS2 | STAD | chr1 | 220275596 | 220275596 | A | C | Missense_Mutation | 1 | |
IARS2 | LIHC | chr1 | 220316460 | 220316460 | T | - | Frame_Shift_Del | p.L840fs | 1 |
IARS2 | OV | chr1 | 218334398 | 218334398 | A | G | Missense_Mutation | p.M73V | 1 |
IARS2 | BLCA | chr1 | 220298625 | 220298625 | G | A | Missense_Mutation | 1 | |
IARS2 | CESC | chr1 | 220269471 | 220269471 | C | T | Missense_Mutation | p.S26L | 1 |
IARS2 | STAD | chr1 | 220279338 | 220279338 | T | C | Missense_Mutation | p.V391A | 1 |
IARS2 | KIRP | chr1 | 220267643 | 220267643 | T | C | Missense_Mutation | p.C29R | 1 |
IARS2 | SARC | chr1 | 220316458 | 220316458 | G | T | Silent | 1 | |
IARS2 | SKCM | chr1 | 220298681 | 220298681 | G | A | Splice_Site | p.E509_splice | 1 |
IARS2 | BLCA | chr1 | 220311374 | 220311374 | G | A | Missense_Mutation | 1 | |
IARS2 | COAD | chr1 | 220275895 | 220275895 | T | C | Missense_Mutation | p.Y270H | 1 |
IARS2 | BLCA | chr1 | 220273958 | 220273958 | C | G | Missense_Mutation | p.Q173E | 1 |
IARS2 | COAD | chr1 | 220316304 | 220316304 | G | A | Missense_Mutation | p.R860H | 1 |
IARS2 | LIHC | chr1 | 220276901 | 220276901 | T | A | Missense_Mutation | p.S355T | 1 |
IARS2 | LUAD | chr1 | 220273987 | 220273987 | G | C | Missense_Mutation | p.K110N | 1 |
IARS2 | SKCM | chr1 | 220284191 | 220284191 | C | T | Missense_Mutation | p.P464L | 1 |
IARS2 | LIHC | chr1 | 220287664 | 220287664 | A | - | Frame_Shift_Del | p.L424fs | 1 |
IARS2 | OV | chr1 | 220311385 | 220311385 | G | C | Missense_Mutation | p.K725N | 1 |
IARS2 | SKCM | chr1 | 220316450 | 220316450 | C | T | Missense_Mutation | p.P837S | 1 |
IARS2 | BLCA | chr1 | 220311311 | 220311311 | G | A | Missense_Mutation | 1 | |
IARS2 | CESC | chr1 | 220269459 | 220269459 | C | A | Nonsense_Mutation | 1 | |
IARS2 | THCA | chr1 | 220320879 | 220320879 | C | T | Missense_Mutation | 1 | |
IARS2 | LGG | chr1 | 220284136 | 220284136 | A | T | Missense_Mutation | p.M374L | 1 |
IARS2 | SKCM | chr1 | 220311351 | 220311351 | C | T | Missense_Mutation | p.S642F | 1 |
IARS2 | BLCA | chr1 | 220298625 | 220298625 | G | A | Missense_Mutation | p.D491N | 1 |
IARS2 | COAD | chr1 | 220287689 | 220287689 | T | G | Missense_Mutation | p.S505A | 1 |
IARS2 | UCEC | chr1 | 220298633 | 220298633 | G | T | Missense_Mutation | p.W565C | 1 |
IARS2 | STAD | chr1 | 220276857 | 220276857 | T | C | Missense_Mutation | p.V340A | 1 |
IARS2 | LIHC | chr1 | 220276069 | 220276069 | A | G | Silent | p.Q300Q | 1 |
IARS2 | LUAD | chr1 | 220287687 | 220287687 | G | T | Missense_Mutation | p.G432V | 1 |
IARS2 | SKCM | chr1 | 220312371 | 220312371 | C | T | Missense_Mutation | p.L733F | 1 |
IARS2 | HNSC | chr1 | 220279318 | 220279318 | G | T | Missense_Mutation | p.M312I | 1 |
IARS2 | LIHC | chr1 | 220315229 | 220315229 | T | - | Frame_Shift_Del | p.S761fs | 1 |
IARS2 | PRAD | chr1 | 220273972 | 220273972 | T | C | Silent | p.A177A | 1 |
IARS2 | SKCM | chr1 | 220273854 | 220273854 | G | A | Missense_Mutation | p.R66Q | 1 |
IARS2 | CESC | chr1 | 220318985 | 220318985 | C | T | Silent | 1 | |
IARS2 | THYM | chr1 | 220311331 | 220311331 | C | T | Silent | 1 | |
IARS2 | UCS | chr1 | 220287663 | 220287664 | - | - | Frame_Shift_Ins | 1 | |
IARS2 | LGG | chr1 | 220320874 | 220320874 | T | G | Missense_Mutation | p.V907G | 1 |
IARS2 | LUAD | chr1 | 220287811 | 220287811 | C | G | Missense_Mutation | p.I473M | 1 |
IARS2 | SARC | chr1 | 220273947 | 220273947 | G | T | Missense_Mutation | p.G97V | 1 |
IARS2 | SKCM | chr1 | 220276107 | 220276107 | T | C | Missense_Mutation | p.M241T | 1 |
IARS2 | BLCA | chr1 | 220311311 | 220311311 | G | A | Missense_Mutation | p.A629T | 1 |
IARS2 | COAD | chr1 | 220287725 | 220287725 | C | T | Missense_Mutation | p.R517W | 1 |
IARS2 | STAD | chr1 | 220284129 | 220284129 | T | A | Silent | p.V443V | 1 |
IARS2 | ESCA | chr1 | 220318982 | 220318982 | C | T | Silent | p.L961 | 1 |
IARS2 | LIHC | chr1 | 220273891 | 220273891 | G | T | Silent | p.V150V | 1 |
IARS2 | LUAD | chr1 | 220273896 | 220273896 | G | T | Missense_Mutation | p.G80V | 1 |
IARS2 | HNSC | chr1 | 220298619 | 220298619 | G | A | Missense_Mutation | p.G489S | 1 |
IARS2 | LIHC | chr1 | 220316309 | 220316309 | G | - | Frame_Shift_Del | p.G790fs | 1 |
IARS2 | SKCM | chr1 | 220275907 | 220275907 | C | T | Missense_Mutation | p.P202S | 1 |
IARS2 | BLCA | chr1 | 220276871 | 220276871 | G | A | Missense_Mutation | 1 | |
IARS2 | CESC | chr1 | 220269459 | 220269459 | C | A | Nonsense_Mutation | p.S94* | 1 |
IARS2 | THYM | chr1 | 220275595 | 220275595 | A | T | Missense_Mutation | p.R225S | 1 |
IARS2 | UCS | chr1 | 220287663 | 220287664 | - | A | Frame_Shift_Ins | p.L496fs | 1 |
IARS2 | UCEC | chr1 | 220291273 | 220291273 | G | T | RNA | 1 | |
IARS2 | LGG | chr1 | 220307791 | 220307791 | G | - | Frame_Shift_Del | p.G558fs | 1 |
IARS2 | LUAD | chr1 | 220275943 | 220275943 | A | G | Missense_Mutation | p.I214V | 1 |
IARS2 | SARC | chr1 | 220276895 | 220276895 | A | G | Missense_Mutation | p.T281A | 1 |
IARS2 | SKCM | chr1 | 220312353 | 220312353 | A | G | Missense_Mutation | p.R655G | 1 |
IARS2 | BLCA | chr1 | 220276871 | 220276871 | G | A | Missense_Mutation | p.E273K | 1 |
IARS2 | COAD | chr1 | 220287758 | 220287758 | T | C | Missense_Mutation | p.W528R | 1 |
IARS2 | SKCM | chr1 | 220307845 | 220307845 | C | T | Missense_Mutation | p.P647S | 1 |
IARS2 | STAD | chr1 | 220280450 | 220280450 | T | C | Silent | p.P428P | 1 |
IARS2 | ESCA | chr1 | 220275570 | 220275570 | G | T | Missense_Mutation | p.G217V | 1 |
IARS2 | LIHC | chr1 | 220276901 | 220276901 | T | A | Missense_Mutation | p.S283T | 1 |
IARS2 | LUAD | chr1 | 220267786 | 220267786 | G | - | Frame_Shift_Del | p.L4fs | 1 |
IARS2 | LIHC | chr1 | 220267661 | 220267661 | G | - | Frame_Shift_Del | p.G35fs | 1 |
IARS2 | PRAD | chr1 | 220275731 | 220275731 | T | A | Silent | p.P170P | 1 |
IARS2 | SKCM | chr1 | 220300168 | 220300168 | G | C | Missense_Mutation | p.W535S | 1 |
IARS2 | BLCA | chr1 | 220267580 | 220267580 | C | T | Missense_Mutation | 1 | |
IARS2 | CESC | chr1 | 220275594 | 220275594 | G | C | Missense_Mutation | p.R225T | 1 |
IARS2 | THYM | chr1 | 220318889 | 220318889 | G | A | Silent | p.L930L | 1 |
IARS2 | LGG | chr1 | 220320874 | 220320874 | T | G | Missense_Mutation | 1 | |
IARS2 | LUAD | chr1 | 220284192 | 220284192 | G | T | Silent | p.P392P | 1 |
IARS2 | SARC | chr1 | 220279326 | 220279326 | G | T | Missense_Mutation | 1 | |
IARS2 | BLCA | chr1 | 220267601 | 220267601 | C | G | Missense_Mutation | p.L15V | 1 |
IARS2 | COAD | chr1 | 220287774 | 220287774 | C | A | Missense_Mutation | p.P533H | 1 |
IARS2 | SKCM | chr1 | 220300168 | 220300168 | G | C | Missense_Mutation | p.W607S | 1 |
IARS2 | ESCA | chr1 | 220318982 | 220318982 | C | T | Silent | p.L961L | 1 |
IARS2 | LIHC | chr1 | 220307815 | 220307816 | TT | - | Frame_Shift_Del | p.L565fs | 1 |
IARS2 | LUAD | chr1 | 220307776 | 220307776 | G | T | Nonsense_Mutation | p.G624* | 1 |
IARS2 | KIRC | chr1 | 220318884 | 220318884 | C | A | Missense_Mutation | p.Q929K | 1 |
IARS2 | LIHC | chr1 | 220269487 | 220269487 | A | - | Frame_Shift_Del | p.R31fs | 1 |
IARS2 | PRAD | chr1 | 220300180 | 220300180 | T | G | Missense_Mutation | p.L539R | 1 |
IARS2 | SKCM | chr1 | 220298661 | 220298661 | C | T | Missense_Mutation | p.P503S | 1 |
IARS2 | BLCA | chr1 | 220267601 | 220267601 | C | G | Missense_Mutation | 1 | |
IARS2 | CESC | chr1 | 220311206 | 220311206 | G | A | RNA | NULL | 1 |
IARS2 | THYM | chr1 | 220311331 | 220311331 | C | T | Silent | p.T707T | 1 |
IARS2 | STAD | chr1 | 220284281 | 220284281 | T | C | Splice_Site | . | 1 |
IARS2 | UCEC | chr1 | 220318939 | 220318942 | GAGA | - | Frame_Shift_Del | p.R947fs | 1 |
IARS2 | LIHC | chr1 | 220276069 | 220276069 | A | G | Silent | 1 | |
IARS2 | LUAD | chr1 | 220284169 | 220284169 | G | T | Nonsense_Mutation | p.E385* | 1 |
IARS2 | SARC | chr1 | 220273947 | 220273947 | G | T | Missense_Mutation | p.G169V | 1 |
IARS2 | SKCM | chr1 | 220312371 | 220312371 | C | T | Missense_Mutation | p.L661F | 1 |
IARS2 | COAD | chr1 | 220300157 | 220300157 | C | T | Silent | p.S603S | 1 |
IARS2 | SKCM | chr1 | 220316450 | 220316450 | C | T | Missense_Mutation | p.P909S | 1 |
IARS2 | HNSC | chr1 | 220287768 | 220287768 | C | A | Missense_Mutation | 1 | |
IARS2 | STAD | chr1 | 220280450 | 220280450 | T | C | Silent | p.P356P | 1 |
IARS2 | LUAD | chr1 | 220287726 | 220287726 | G | C | Missense_Mutation | p.R517P | 1 |
IARS2 | KIRC | chr1 | 220284279 | 220284279 | G | T | Splice_Site | p.K421_splice | 1 |
IARS2 | LIHC | chr1 | 220269503 | 220269503 | T | - | Frame_Shift_Del | p.F37fs | 1 |
IARS2 | READ | chr1 | 220315167 | 220315167 | G | T | Missense_Mutation | p.D813Y | 1 |
IARS2 | SKCM | chr1 | 220310240 | 220310240 | T | A | Missense_Mutation | p.V607D | 1 |
IARS2 | BLCA | chr1 | 220310180 | 220310180 | G | A | Missense_Mutation | 1 | |
IARS2 | CESC | chr1 | 220311328 | 220311328 | C | T | Silent | p.F706 | 1 |
IARS2 | THYM | chr1 | 220316409 | 220316409 | G | T | Missense_Mutation | p.G895V | 1 |
IARS2 | STAD | chr1 | 220275603 | 220275604 | AC | - | Frame_Shift_Del | p.228_228del | 1 |
IARS2 | UCEC | chr1 | 220279397 | 220279397 | C | - | Frame_Shift_Del | p.P411fs | 1 |
IARS2 | LIHC | chr1 | 220307815 | 220307816 | TT | - | Frame_Shift_Del | 1 | |
IARS2 | LUAD | chr1 | 220310249 | 220310249 | G | T | Missense_Mutation | p.G610V | 1 |
IARS2 | SKCM | chr1 | 220312353 | 220312353 | A | G | Missense_Mutation | p.R727G | 1 |
IARS2 | BLCA | chr1 | 220310180 | 220310180 | G | A | Missense_Mutation | p.G587E | 1 |
IARS2 | COAD | chr1 | 220307800 | 220307800 | T | - | Frame_Shift_Del | p.W631fs | 1 |
Copy number variation (CNV) of IARS2 * Click on the image to open the original image in a new window. |
Fusion gene breakpoints (product of the structural variants (SVs)) across IARS2 * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion genes with this translation factor from FusionGDB2.0. |
FusionGDB2 ID | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
102708 | N/A | AA523446 | IARS2 | chr1 | 220321381 | + | LINC00276 | chr2 | 13977818 | - |
94098 | N/A | AA523339 | IARS2 | chr1 | 220321381 | + | MED13 | chr17 | 60125763 | + |
98634 | N/A | CF122559 | IARS2 | chr1 | 220282199 | - | RSPRY1 | chr16 | 57233829 | - |
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Kaplan-Meier plots with logrank tests of overall survival (OS) |
Cancer type | Translation factor | Coefficent | Hazard ratio | Wald test pval | Likelihool ratio pval | Logrank test pval | # samples |
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Differential gene expression between female and male. (Wilcoxon test, pval<0.05) |
Cancer type | Translation factor | pval | adj.p |
LUAD | IARS2 | 0.000641540897990344 | 0.018 |
LUSC | IARS2 | 0.00131337499408808 | 0.035 |
KIRP | IARS2 | 0.00186721104249618 | 0.049 |
TGCT | IARS2 | 0.00252794916595926 | 0.063 |
ACC | IARS2 | 0.0117316171619728 | 0.28 |
SARC | IARS2 | 0.0248459342590379 | 0.57 |
READ | IARS2 | 0.0436053783783048 | 0.96 |
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Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05) |
Cancer type | Translation factor | pval | adj.p |
STAD | IARS2 | 0.0451497447593288 | 1 |
THCA | IARS2 | 0.00147150988160102 | 0.047 |
KICH | IARS2 | 0.00888803347798149 | 0.28 |
BRCA | IARS2 | 0.0434839757304705 | 1 |
SARC | IARS2 | 0.00137889888705146 | 0.046 |
HNSC | IARS2 | 0.010309861746445 | 0.31 |
READ | IARS2 | 0.0228558171380617 | 0.66 |
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Drugs targeting genes involved in this translation factor. (DrugBank Version 5.1.8 2021-05-08) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Diseases associated with this translation factor. (DisGeNet 4.0) |
Disease ID | Disease Name | # PubMeds | Disease source |
C4014942 | CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
C0023264 | Leigh Disease | 4 | CLINGEN |
C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | 4 | CLINGEN |
C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | 4 | CLINGEN |
C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | 4 | CLINGEN |
C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | 4 | CLINGEN |
C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | 4 | CLINGEN |
C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | 4 | CLINGEN |
C0010093 | Corpus Luteum Cyst | 1 | CTD_human |
C0029927 | Ovarian Cysts | 1 | CTD_human |