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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 TAT |
 Gene summary |
| Gene information | Gene symbol | TAT | Gene ID | 6898 |
| Gene name | tyrosine aminotransferase | |
| Synonyms | - | |
| Cytomap | 16q22.2 | |
| Type of gene | protein-coding | |
| Description | tyrosine aminotransferaseL-tyrosine:2-oxoglutarate aminotransferasetestis tissue sperm-binding protein Li 34atyrosine aminotransferase, cytosolic | |
| Modification date | 20180519 | |
| UniProtAcc | P17735 | |
| Context | PubMed: TAT [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 |
| TAT | GO:0006103 | 2-oxoglutarate metabolic process | 7999802 |
| TAT | GO:0006536 | glutamate metabolic process | 7999802 |
| TAT | GO:0006572 | tyrosine catabolic process | 7999802 |
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Exon skipping events across known transcript of Ensembl for TAT 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 TAT |
| 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 TAT |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_145893 | 16 | 71601186:71602187:71602613:71602712:71603756:71603837 | 71602613:71602712 | ENSG00000198650.6 | ENST00000355962.4 |
| exon_skip_145895 | 16 | 71602613:71602712:71603756:71603840:71604171:71604300 | 71603756:71603840 | ENSG00000198650.6 | ENST00000355962.4 |
| exon_skip_145896 | 16 | 71603756:71603840:71604171:71604300:71604581:71604734 | 71604171:71604300 | ENSG00000198650.6 | ENST00000355962.4 |
| exon_skip_145897 | 16 | 71604171:71604300:71604581:71604734:71605508:71605561 | 71604581:71604734 | ENSG00000198650.6 | ENST00000355962.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TAT |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_145893 | 16 | 71601186:71602187:71602613:71602712:71603756:71603837 | 71602613:71602712 | ENSG00000198650.6 | ENST00000355962.4 |
| exon_skip_145895 | 16 | 71602613:71602712:71603756:71603840:71604171:71604300 | 71603756:71603840 | ENSG00000198650.6 | ENST00000355962.4 |
| exon_skip_145896 | 16 | 71603756:71603840:71604171:71604300:71604581:71604734 | 71604171:71604300 | ENSG00000198650.6 | ENST00000355962.4 |
| exon_skip_145897 | 16 | 71604171:71604300:71604581:71604734:71605508:71605561 | 71604581:71604734 | ENSG00000198650.6 | ENST00000355962.4 |
| 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 TAT |
| 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 |
| ENST00000355962 | 71602613 | 71602712 | In-frame |
| ENST00000355962 | 71603756 | 71603840 | In-frame |
| ENST00000355962 | 71604171 | 71604300 | In-frame |
| ENST00000355962 | 71604581 | 71604734 | 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 |
| ENST00000355962 | 71602613 | 71602712 | In-frame |
| ENST00000355962 | 71603756 | 71603840 | In-frame |
| ENST00000355962 | 71604171 | 71604300 | In-frame |
| ENST00000355962 | 71604581 | 71604734 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TAT |
| 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 |
| ENST00000355962 | 4000 | 454 | 71604581 | 71604734 | 894 | 1046 | 253 | 304 |
| ENST00000355962 | 4000 | 454 | 71604171 | 71604300 | 1047 | 1175 | 304 | 347 |
| ENST00000355962 | 4000 | 454 | 71603756 | 71603840 | 1176 | 1259 | 347 | 375 |
| ENST00000355962 | 4000 | 454 | 71602613 | 71602712 | 1260 | 1358 | 375 | 408 |
| 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 |
| ENST00000355962 | 4000 | 454 | 71604581 | 71604734 | 894 | 1046 | 253 | 304 |
| ENST00000355962 | 4000 | 454 | 71604171 | 71604300 | 1047 | 1175 | 304 | 347 |
| ENST00000355962 | 4000 | 454 | 71603756 | 71603840 | 1176 | 1259 | 347 | 375 |
| ENST00000355962 | 4000 | 454 | 71602613 | 71602712 | 1260 | 1358 | 375 | 408 |
| 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 |
| P17735 | 253 | 304 | 272 | 278 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 290 | 295 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 1 | 454 | Chain | ID=PRO_0000123887;Note=Tyrosine aminotransferase |
| P17735 | 253 | 304 | 263 | 266 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 285 | 287 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 302 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 280 | 280 | Modified residue | Note=N6-(pyridoxal phosphate)lysine |
| P17735 | 253 | 304 | 294 | 294 | Mutagenesis | Note=Reduced catalytic activity. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16640556;Dbxref=PMID:16640556 |
| P17735 | 253 | 304 | 279 | 281 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 304 | 347 | 1 | 454 | Chain | ID=PRO_0000123887;Note=Tyrosine aminotransferase |
| P17735 | 304 | 347 | 302 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 304 | 347 | 321 | 333 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 304 | 347 | 336 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 347 | 375 | 363 | 366 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 347 | 375 | 373 | 378 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 347 | 375 | 1 | 454 | Chain | ID=PRO_0000123887;Note=Tyrosine aminotransferase |
| P17735 | 347 | 375 | 336 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 347 | 375 | 362 | 362 | Natural variant | ID=VAR_000560;Note=In TYRSN2. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1357662;Dbxref=dbSNP:rs587776511,PMID:1357662 |
| P17735 | 375 | 408 | 373 | 378 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 375 | 408 | 1 | 454 | Chain | ID=PRO_0000123887;Note=Tyrosine aminotransferase |
| P17735 | 375 | 408 | 380 | 382 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 375 | 408 | 389 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 375 | 408 | 407 | 410 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| 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 |
| P17735 | 253 | 304 | 272 | 278 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 290 | 295 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 1 | 454 | Chain | ID=PRO_0000123887;Note=Tyrosine aminotransferase |
| P17735 | 253 | 304 | 263 | 266 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 285 | 287 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 302 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 253 | 304 | 280 | 280 | Modified residue | Note=N6-(pyridoxal phosphate)lysine |
| P17735 | 253 | 304 | 294 | 294 | Mutagenesis | Note=Reduced catalytic activity. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16640556;Dbxref=PMID:16640556 |
| P17735 | 253 | 304 | 279 | 281 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 304 | 347 | 1 | 454 | Chain | ID=PRO_0000123887;Note=Tyrosine aminotransferase |
| P17735 | 304 | 347 | 302 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 304 | 347 | 321 | 333 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 304 | 347 | 336 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 347 | 375 | 363 | 366 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 347 | 375 | 373 | 378 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 347 | 375 | 1 | 454 | Chain | ID=PRO_0000123887;Note=Tyrosine aminotransferase |
| P17735 | 347 | 375 | 336 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 347 | 375 | 362 | 362 | Natural variant | ID=VAR_000560;Note=In TYRSN2. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1357662;Dbxref=dbSNP:rs587776511,PMID:1357662 |
| P17735 | 375 | 408 | 373 | 378 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 375 | 408 | 1 | 454 | Chain | ID=PRO_0000123887;Note=Tyrosine aminotransferase |
| P17735 | 375 | 408 | 380 | 382 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 375 | 408 | 389 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
| P17735 | 375 | 408 | 407 | 410 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DYD |
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SNVs in the skipped exons for TAT |
| - 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-A3A1-01 | exon_skip_145897 | 71604582 | 71604734 | 71604728 | 71604728 | Frame_Shift_Del | A | - | p.S256fs |
| BRCA | TCGA-E9-A22H-01 | exon_skip_145895 | 71603757 | 71603840 | 71603760 | 71603761 | Frame_Shift_Ins | - | AGGT | p.M375fs |
| LIHC | TCGA-2Y-A9GW-01 | exon_skip_145897 | 71604582 | 71604734 | 71604656 | 71604657 | Frame_Shift_Ins | - | G | p.K280fs |
| BLCA | TCGA-XF-A9T2-01 | exon_skip_145896 | 71604172 | 71604300 | 71604297 | 71604297 | Nonsense_Mutation | G | A | p.R306* |
| SKCM | TCGA-FS-A1ZT-06 | exon_skip_145897 | 71604582 | 71604734 | 71604622 | 71604622 | Nonsense_Mutation | C | T | p.W291* |
| - 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 |
| KURAMOCHI_OVARY | 71602614 | 71602712 | 71602619 | 71602619 | Missense_Mutation | C | G | p.A407P |
| HS729_SOFT_TISSUE | 71602614 | 71602712 | 71602654 | 71602654 | Missense_Mutation | C | T | p.R395Q |
| MELJUSO_SKIN | 71602614 | 71602712 | 71602658 | 71602659 | Missense_Mutation | CC | TT | p.E394K |
| COLO783_SKIN | 71602614 | 71602712 | 71602673 | 71602673 | Missense_Mutation | C | T | p.D389N |
| NCIH650_LUNG | 71603757 | 71603840 | 71603797 | 71603797 | Missense_Mutation | C | G | p.G362A |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71603757 | 71603840 | 71603798 | 71603798 | Missense_Mutation | C | T | p.G362R |
| NCIH2171_LUNG | 71603757 | 71603840 | 71603825 | 71603825 | Missense_Mutation | A | G | p.C353R |
| NCIBL2171_MATCHED_NORMAL_TISSUE | 71603757 | 71603840 | 71603825 | 71603825 | Missense_Mutation | A | G | p.C353R |
| TE14_OESOPHAGUS | 71604172 | 71604300 | 71604212 | 71604212 | Missense_Mutation | G | T | p.T334N |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71604582 | 71604734 | 71604635 | 71604635 | Missense_Mutation | A | T | p.W287R |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71604582 | 71604734 | 71604652 | 71604652 | Missense_Mutation | C | T | p.R281H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 71604582 | 71604734 | 71604689 | 71604689 | Missense_Mutation | C | T | p.D269N |
| HCC2998_LARGE_INTESTINE | 71604582 | 71604734 | 71604689 | 71604689 | Missense_Mutation | C | T | p.D269N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71604582 | 71604734 | 71604689 | 71604689 | Missense_Mutation | C | T | p.D269N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71604582 | 71604734 | 71604707 | 71604707 | Missense_Mutation | G | T | p.L263M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TAT |
| 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 TAT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TAT |
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RelatedDrugs for TAT |
| 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 |
| P17735 | DB00114 | Pyridoxal phosphate | Tyrosine aminotransferase | small molecule | approved|investigational|nutraceutical | |
| P17735 | DB00142 | Glutamic Acid | Tyrosine aminotransferase | small molecule | approved|nutraceutical |
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RelatedDiseases for TAT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TAT | C0268487 | Tyrosine Transaminase Deficiency Disease | 1 | ORPHANET;UNIPROT |
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