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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for AGXT2 |
 Gene summary |
| Gene information | Gene symbol | AGXT2 | Gene ID | 64902 |
| Gene name | alanine--glyoxylate aminotransferase 2 | |
| Synonyms | AGT2|BAIBA|DAIBAT | |
| Cytomap | 5p13.2 | |
| Type of gene | protein-coding | |
| Description | alanine--glyoxylate aminotransferase 2, mitochondrial(R)-3-amino-2-methylpropionate--pyruvate transaminasebeta-ALAAT IIbeta-alanine-pyruvate aminotransferase | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BYV1 | |
| Context | PubMed: AGXT2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| AGXT2 | GO:0009436 | glyoxylate catabolic process | 20018850 |
| AGXT2 | GO:0019265 | glycine biosynthetic process, by transamination of glyoxylate | 20018850 |
| AGXT2 | GO:0019481 | L-alanine catabolic process, by transamination | 20018850 |
| AGXT2 | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 20018850 |
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Exon skipping events across known transcript of Ensembl for AGXT2 from UCSC genome browser |
| 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. |
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Gene isoform structures and expression levels for AGXT2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for AGXT2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441433 | 5 | 34998354:34998507:34998778:34998931:35003867:35003966 | 34998778:34998931 | ENSG00000113492.9 | ENST00000510428.1 |
| exon_skip_441435 | 5 | 35003867:35003966:35010104:35010254:35013058:35013150 | 35010104:35010254 | ENSG00000113492.9 | ENST00000231420.6,ENST00000512135.1 |
| exon_skip_441436 | 5 | 35003867:35003966:35010104:35010254:35025867:35025938 | 35010104:35010254 | ENSG00000113492.9 | ENST00000510428.1 |
| exon_skip_441438 | 5 | 35010104:35010254:35013058:35013150:35014091:35014224 | 35013058:35013150 | ENSG00000113492.9 | ENST00000231420.6,ENST00000512135.1 |
| exon_skip_441441 | 5 | 35013058:35013150:35014091:35014224:35025867:35025938 | 35014091:35014224 | ENSG00000113492.9 | ENST00000505349.1,ENST00000231420.6,ENST00000512135.1 |
| exon_skip_441444 | 5 | 35025867:35025960:35026514:35026615:35032836:35032930 | 35026514:35026615 | ENSG00000113492.9 | ENST00000231420.6,ENST00000510428.1 |
| exon_skip_441447 | 5 | 35026514:35026615:35032836:35032930:35033564:35033658 | 35032836:35032930 | ENSG00000113492.9 | ENST00000231420.6,ENST00000510428.1 |
| exon_skip_441449 | 5 | 35035326:35035421:35037046:35037170:35039428:35039613 | 35037046:35037170 | ENSG00000113492.9 | ENST00000231420.6,ENST00000510428.1,ENST00000505542.1 |
| exon_skip_441453 | 5 | 35037046:35037170:35039428:35039613:35040679:35040765 | 35039428:35039613 | ENSG00000113492.9 | ENST00000231420.6,ENST00000510428.1 |
| exon_skip_441454 | 5 | 35037046:35037170:35039428:35039613:35047909:35047995 | 35039428:35039613 | ENSG00000113492.9 | ENST00000505542.1 |
| exon_skip_441458 | 5 | 35039428:35039613:35040679:35040768:35047909:35047995 | 35040679:35040768 | ENSG00000113492.9 | ENST00000510428.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AGXT2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441433 | 5 | 34998354:34998507:34998778:34998931:35003867:35003966 | 34998778:34998931 | ENSG00000113492.9 | ENST00000510428.1 |
| exon_skip_441435 | 5 | 35003867:35003966:35010104:35010254:35013058:35013150 | 35010104:35010254 | ENSG00000113492.9 | ENST00000231420.6,ENST00000512135.1 |
| exon_skip_441436 | 5 | 35003867:35003966:35010104:35010254:35025867:35025938 | 35010104:35010254 | ENSG00000113492.9 | ENST00000510428.1 |
| exon_skip_441438 | 5 | 35010104:35010254:35013058:35013150:35014091:35014224 | 35013058:35013150 | ENSG00000113492.9 | ENST00000231420.6,ENST00000512135.1 |
| exon_skip_441441 | 5 | 35013058:35013150:35014091:35014224:35025867:35025938 | 35014091:35014224 | ENSG00000113492.9 | ENST00000231420.6,ENST00000512135.1,ENST00000505349.1 |
| exon_skip_441444 | 5 | 35025867:35025960:35026514:35026615:35032836:35032930 | 35026514:35026615 | ENSG00000113492.9 | ENST00000231420.6,ENST00000510428.1 |
| exon_skip_441447 | 5 | 35026514:35026615:35032836:35032930:35033564:35033658 | 35032836:35032930 | ENSG00000113492.9 | ENST00000231420.6,ENST00000510428.1 |
| exon_skip_441449 | 5 | 35035326:35035421:35037046:35037170:35039428:35039613 | 35037046:35037170 | ENSG00000113492.9 | ENST00000231420.6,ENST00000510428.1,ENST00000505542.1 |
| exon_skip_441453 | 5 | 35037046:35037170:35039428:35039613:35040679:35040765 | 35039428:35039613 | ENSG00000113492.9 | ENST00000231420.6,ENST00000510428.1 |
| exon_skip_441454 | 5 | 35037046:35037170:35039428:35039613:35047909:35047995 | 35039428:35039613 | ENSG00000113492.9 | ENST00000505542.1 |
| exon_skip_441458 | 5 | 35039428:35039613:35040679:35040768:35047909:35047995 | 35040679:35040768 | ENSG00000113492.9 | ENST00000510428.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for AGXT2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000231420 | 35013058 | 35013150 | Frame-shift |
| ENST00000231420 | 35014091 | 35014224 | Frame-shift |
| ENST00000231420 | 35026514 | 35026615 | Frame-shift |
| ENST00000231420 | 35032836 | 35032930 | Frame-shift |
| ENST00000231420 | 35037046 | 35037170 | Frame-shift |
| ENST00000231420 | 35039428 | 35039613 | Frame-shift |
| ENST00000231420 | 35010104 | 35010254 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000231420 | 35013058 | 35013150 | Frame-shift |
| ENST00000231420 | 35014091 | 35014224 | Frame-shift |
| ENST00000231420 | 35026514 | 35026615 | Frame-shift |
| ENST00000231420 | 35032836 | 35032930 | Frame-shift |
| ENST00000231420 | 35037046 | 35037170 | Frame-shift |
| ENST00000231420 | 35039428 | 35039613 | Frame-shift |
| ENST00000231420 | 35010104 | 35010254 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AGXT2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000231420 | 2381 | 514 | 35010104 | 35010254 | 1390 | 1539 | 396 | 446 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000231420 | 2381 | 514 | 35010104 | 35010254 | 1390 | 1539 | 396 | 446 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9BYV1 | 396 | 446 | 42 | 514 | Chain | ID=PRO_0000001269;Note=Alanine--glyoxylate aminotransferase 2%2C mitochondrial |
| Q9BYV1 | 396 | 446 | 417 | 417 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UEG6 |
| Q9BYV1 | 396 | 446 | 417 | 417 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UEG6 |
| Q9BYV1 | 396 | 446 | 420 | 420 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UEG6 |
| Q9BYV1 | 396 | 446 | 420 | 420 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UEG6 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9BYV1 | 396 | 446 | 42 | 514 | Chain | ID=PRO_0000001269;Note=Alanine--glyoxylate aminotransferase 2%2C mitochondrial |
| Q9BYV1 | 396 | 446 | 417 | 417 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UEG6 |
| Q9BYV1 | 396 | 446 | 417 | 417 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UEG6 |
| Q9BYV1 | 396 | 446 | 420 | 420 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UEG6 |
| Q9BYV1 | 396 | 446 | 420 | 420 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UEG6 |
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SNVs in the skipped exons for AGXT2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_441436 exon_skip_441435 | 35010105 | 35010254 | 35010226 | 35010226 | Frame_Shift_Del | T | - | p.N406fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_441436 exon_skip_441435 | 35010105 | 35010254 | 35010226 | 35010226 | Frame_Shift_Del | T | - | p.N406fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_441441 | 35014092 | 35014224 | 35014184 | 35014184 | Frame_Shift_Del | C | - | p.G335fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_441444 | 35026515 | 35026615 | 35026531 | 35026531 | Frame_Shift_Del | A | - | p.F285fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_441454 exon_skip_441453 | 35039429 | 35039613 | 35039486 | 35039486 | Frame_Shift_Del | C | - | p.S102fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_441436 exon_skip_441435 | 35010105 | 35010254 | 35010122 | 35010122 | Nonsense_Mutation | C | A | p.E441* |
| HNSC | TCGA-CN-4723-01 | exon_skip_441436 exon_skip_441435 | 35010105 | 35010254 | 35010167 | 35010167 | Nonsense_Mutation | C | A | p.E426* |
| SKCM | TCGA-EE-A29S-06 | exon_skip_441454 exon_skip_441453 | 35039429 | 35039613 | 35039544 | 35039544 | Nonsense_Mutation | G | A | p.Q83* |
| SKCM | TCGA-EE-A29S-06 | exon_skip_441454 exon_skip_441453 | 35039429 | 35039613 | 35039544 | 35039544 | Nonsense_Mutation | G | A | p.Q83X |
| READ | TCGA-G5-6233-01 | exon_skip_441454 exon_skip_441453 | 35039429 | 35039613 | 35039428 | 35039428 | Splice_Site | C | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34998779 | 34998931 | 34998895 | 34998895 | Missense_Mutation | G | A | p.P492S |
| LOVO_LARGE_INTESTINE | 34998779 | 34998931 | 34998906 | 34998906 | Missense_Mutation | C | T | p.C488Y |
| SNUC5_LARGE_INTESTINE | 34998779 | 34998931 | 34998906 | 34998906 | Missense_Mutation | C | T | p.C488Y |
| NCIH1373_LUNG | 35010105 | 35010254 | 35010108 | 35010108 | Missense_Mutation | A | T | p.D445E |
| TT_OESOPHAGUS | 35010105 | 35010254 | 35010167 | 35010167 | Missense_Mutation | C | T | p.E426K |
| EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35010105 | 35010254 | 35010178 | 35010178 | Missense_Mutation | C | T | p.R422Q |
| HEPG2_LIVER | 35010105 | 35010254 | 35010225 | 35010225 | Missense_Mutation | G | C | p.N406K |
| C3A_LIVER | 35010105 | 35010254 | 35010225 | 35010225 | Missense_Mutation | G | C | p.N406K |
| 451LU_SKIN | 35010105 | 35010254 | 35010230 | 35010230 | Missense_Mutation | C | T | p.E405K |
| NCIH1770_LUNG | 35010105 | 35010254 | 35010230 | 35010230 | Missense_Mutation | C | T | p.E405K |
| NCIH2170_LUNG | 35013059 | 35013150 | 35013112 | 35013112 | Missense_Mutation | T | G | p.N379H |
| SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35014092 | 35014224 | 35014115 | 35014115 | Missense_Mutation | A | T | p.M358K |
| HCC38_BREAST | 35014092 | 35014224 | 35014133 | 35014133 | Missense_Mutation | A | G | p.I352T |
| SW684_SOFT_TISSUE | 35014092 | 35014224 | 35014143 | 35014143 | Missense_Mutation | C | T | p.A349T |
| HEC1_ENDOMETRIUM | 35014092 | 35014224 | 35014144 | 35014144 | Missense_Mutation | C | T | p.M348I |
| HT115_LARGE_INTESTINE | 35014092 | 35014224 | 35014170 | 35014170 | Missense_Mutation | C | T | p.D340N |
| JHUEM1_ENDOMETRIUM | 35014092 | 35014224 | 35014170 | 35014170 | Missense_Mutation | C | T | p.D340N |
| MHHES1_BONE | 35014092 | 35014224 | 35014170 | 35014170 | Missense_Mutation | C | T | p.D340N |
| NCIH838_LUNG | 35032837 | 35032930 | 35032856 | 35032856 | Missense_Mutation | C | A | p.R250S |
| SARC9371_BONE | 35032837 | 35032930 | 35032920 | 35032920 | Missense_Mutation | G | A | p.P229L |
| LB2241EBV_MATCHED_NORMAL_TISSUE | 35037047 | 35037170 | 35037084 | 35037084 | Missense_Mutation | G | C | p.A150G |
| LB2241RCC_KIDNEY | 35037047 | 35037170 | 35037084 | 35037084 | Missense_Mutation | G | C | p.A150G |
| HS852T_SKIN | 35039429 | 35039613 | 35039454 | 35039454 | Missense_Mutation | T | C | p.T113A |
| SW156_KIDNEY | 35039429 | 35039613 | 35039481 | 35039481 | Missense_Mutation | A | T | p.Y104N |
| KM12_LARGE_INTESTINE | 35039429 | 35039613 | 35039483 | 35039483 | Missense_Mutation | C | T | p.R103K |
| SNU1040_LARGE_INTESTINE | 35039429 | 35039613 | 35039511 | 35039511 | Missense_Mutation | C | T | p.E94K |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35039429 | 35039613 | 35039531 | 35039531 | Missense_Mutation | A | G | p.L87P |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35040680 | 35040768 | 35040712 | 35040712 | Missense_Mutation | G | A | p.P49S |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34998779 | 34998931 | 34998892 | 34998892 | Nonsense_Mutation | C | A | p.E493* |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35014092 | 35014224 | 35014187 | 35014187 | Nonsense_Mutation | C | T | p.W334* |
| SNU81_LARGE_INTESTINE | 35026515 | 35026615 | 35026526 | 35026526 | Nonsense_Mutation | C | A | p.E287* |
| SEKI_SKIN | 35014092 | 35014224 | 35014224 | 35014224 | Splice_Site | C | A | p.V322L |
| NCIH1930_LUNG | 35014092 | 35014224 | 35014224 | 35014224 | Splice_Site | C | A | p.V322L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AGXT2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGXT2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGXT2 |
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RelatedDrugs for AGXT2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9BYV1 | DB00114 | Pyridoxal phosphate | Alanine--glyoxylate aminotransferase 2, mitochondrial | small molecule | approved|investigational|nutraceutical | |
| Q9BYV1 | DB00145 | Glycine | Alanine--glyoxylate aminotransferase 2, mitochondrial | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for AGXT2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AGXT2 | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| AGXT2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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