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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 ATAT1 |
 Gene summary |
| Gene information | Gene symbol | ATAT1 | Gene ID | 79969 |
| Gene name | alpha tubulin acetyltransferase 1 | |
| Synonyms | C6orf134|MEC17|Nbla00487|TAT|alpha-TAT|alpha-TAT1 | |
| Cytomap | 6p21.33 | |
| Type of gene | protein-coding | |
| Description | alpha-tubulin N-acetyltransferase 1acetyltransferase mec-17 homolog | |
| Modification date | 20180527 | |
| UniProtAcc | Q5SQI0 | |
| Context | PubMed: ATAT1 [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 |
| ATAT1 | GO:0071929 | alpha-tubulin acetylation | 23071314|24906155 |
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Exon skipping events across known transcript of Ensembl for ATAT1 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 ATAT1 |
| 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 ATAT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_449328 | 6 | 30595236:30595297:30595412:30595504:30595627:30595688 | 30595412:30595504 | ENSG00000137343.13 | ENST00000318999.7,ENST00000471782.1,ENST00000468713.1,ENST00000376483.4,ENST00000330083.5,ENST00000319027.5,ENST00000493388.1,ENST00000376485.4,ENST00000329992.8,ENST00000376478.2 |
| exon_skip_449329 | 6 | 30596176:30596207:30608153:30608199:30609952:30610024 | 30608153:30608199 | ENSG00000137343.13 | ENST00000318999.7,ENST00000319027.5,ENST00000462304.1,ENST00000376478.2 |
| exon_skip_449332 | 6 | 30608153:30608199:30608311:30608380:30609952:30610024 | 30608311:30608380 | ENSG00000137343.13 | ENST00000471782.1,ENST00000468713.1,ENST00000376483.4,ENST00000330083.5,ENST00000376485.4,ENST00000329992.8 |
| exon_skip_449340 | 6 | 30609952:30610024:30610544:30610788:30613671:30613751 | 30610544:30610788 | ENSG00000137343.13 | ENST00000330083.5,ENST00000376485.4,ENST00000376478.2 |
| exon_skip_449344 | 6 | 30610544:30610788:30613671:30613751:30613843:30613886 | 30613671:30613751 | ENSG00000137343.13 | ENST00000330083.5,ENST00000376485.4,ENST00000376478.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATAT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_449328 | 6 | 30595236:30595297:30595412:30595504:30595627:30595688 | 30595412:30595504 | ENSG00000137343.13 | ENST00000318999.7,ENST00000376485.4,ENST00000376478.2,ENST00000319027.5,ENST00000376483.4,ENST00000329992.8,ENST00000330083.5,ENST00000468713.1,ENST00000493388.1,ENST00000471782.1 |
| exon_skip_449332 | 6 | 30608153:30608199:30608311:30608380:30609952:30610024 | 30608311:30608380 | ENSG00000137343.13 | ENST00000376485.4,ENST00000376483.4,ENST00000329992.8,ENST00000330083.5,ENST00000468713.1,ENST00000471782.1 |
| exon_skip_449340 | 6 | 30609952:30610024:30610544:30610788:30613671:30613751 | 30610544:30610788 | ENSG00000137343.13 | ENST00000376485.4,ENST00000376478.2,ENST00000330083.5 |
| exon_skip_449344 | 6 | 30610544:30610788:30613671:30613751:30613843:30613886 | 30613671:30613751 | ENSG00000137343.13 | ENST00000376485.4,ENST00000376478.2,ENST00000330083.5 |
| 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 ATAT1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ATAT1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for ATAT1 |
| - 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. |
ATAT1_COAD_exon_skip_449340_psi_boxplot.png |
ATAT1_LIHC_exon_skip_449340_psi_boxplot.png |
ATAT1_SARC_exon_skip_449340_psi_boxplot.png |
| - 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 |
| SARC | TCGA-QQ-A8VF-01 | exon_skip_449340 | 30610545 | 30610788 | 30610619 | 30610619 | Frame_Shift_Del | C | - | p.P268fs |
| STAD | TCGA-BR-8382-01 | exon_skip_449340 | 30610545 | 30610788 | 30610619 | 30610619 | Frame_Shift_Del | C | - | p.P266fs |
| KICH | TCGA-KM-8439-01 | exon_skip_449340 | 30610545 | 30610788 | 30610646 | 30610646 | Frame_Shift_Del | T | - | p.S264fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_449340 | 30610545 | 30610788 | 30610661 | 30610661 | Frame_Shift_Del | C | - | p.P281fs |
| COAD | TCGA-AA-3663-01 | exon_skip_449340 | 30610545 | 30610788 | 30610714 | 30610714 | Frame_Shift_Del | C | - | p.C298fs |
| COAD | TCGA-AY-6197-01 | exon_skip_449340 | 30610545 | 30610788 | 30610714 | 30610714 | Frame_Shift_Del | C | - | p.C298fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_449340 | 30610545 | 30610788 | 30610714 | 30610714 | Frame_Shift_Del | C | - | p.C298fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_449340 | 30610545 | 30610788 | 30610757 | 30610757 | Frame_Shift_Del | G | - | p.G314fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_449340 | 30610545 | 30610788 | 30610765 | 30610765 | Frame_Shift_Del | C | - | p.S315fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_449344 | 30613672 | 30613751 | 30613679 | 30613679 | Frame_Shift_Del | C | - | p.P315fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_449344 | 30613672 | 30613751 | 30613721 | 30613721 | Frame_Shift_Del | G | - | p.G329fs |
| CESC | TCGA-EA-A3HU-01 | exon_skip_449344 | 30613672 | 30613751 | 30613720 | 30613721 | Frame_Shift_Ins | - | G | p.V341fs |
| COAD | TCGA-AY-6197-01 | exon_skip_449344 | 30613672 | 30613751 | 30613720 | 30613721 | Frame_Shift_Ins | - | G | p.H327fs |
| COAD | TCGA-G4-6628-01 | exon_skip_449344 | 30613672 | 30613751 | 30613720 | 30613721 | Frame_Shift_Ins | - | G | p.H327fs |
| UCEC | TCGA-BG-A18C-01 | exon_skip_449340 | 30610545 | 30610788 | 30610544 | 30610544 | Splice_Site | G | T | p.F230_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AA-3663-01 |
| Cancer type: COAD | |
| ESID: exon_skip_449340 | |
| Skipped exon start: 30610545 | |
| Skipped exon end: 30610788 | |
| Mutation start: 30610714 | |
| Mutation end: 30610714 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.C298fs | |
exon_skip_18752_COAD_TCGA-AA-3663-01.png | |
exon_skip_339350_COAD_TCGA-AA-3663-01.png | |
exon_skip_339352_COAD_TCGA-AA-3663-01.png | |
exon_skip_37074_COAD_TCGA-AA-3663-01.png | |
exon_skip_379370_COAD_TCGA-AA-3663-01.png | |
exon_skip_384539_COAD_TCGA-AA-3663-01.png | |
exon_skip_384545_COAD_TCGA-AA-3663-01.png | |
exon_skip_449340_COAD_TCGA-AA-3663-01.png | |
exon_skip_49506_COAD_TCGA-AA-3663-01.png | |
exon_skip_499778_COAD_TCGA-AA-3663-01.png | |
exon_skip_84515_COAD_TCGA-AA-3663-01.png | |
 | Sample: TCGA-AY-6197-01 |
| Cancer type: COAD | |
| ESID: exon_skip_449340 | |
| Skipped exon start: 30610545 | |
| Skipped exon end: 30610788 | |
| Mutation start: 30610714 | |
| Mutation end: 30610714 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.C298fs | |
| Sample: TCGA-AY-6197-01 |
| Cancer type: COAD | |
| ESID: exon_skip_449344 | |
| Skipped exon start: 30613672 | |
| Skipped exon end: 30613751 | |
| Mutation start: 30613720 | |
| Mutation end: 30613721 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.H327fs | |
exon_skip_110606_COAD_TCGA-AY-6197-01.png | |
exon_skip_121022_COAD_TCGA-AY-6197-01.png | |
exon_skip_315782_COAD_TCGA-AY-6197-01.png | |
exon_skip_320294_COAD_TCGA-AY-6197-01.png | |
exon_skip_331095_COAD_TCGA-AY-6197-01.png | |
exon_skip_331623_COAD_TCGA-AY-6197-01.png | |
exon_skip_339350_COAD_TCGA-AY-6197-01.png | |
exon_skip_343170_COAD_TCGA-AY-6197-01.png | |
exon_skip_40234_COAD_TCGA-AY-6197-01.png | |
exon_skip_40235_COAD_TCGA-AY-6197-01.png | |
exon_skip_449340_COAD_TCGA-AY-6197-01.png | |
exon_skip_489149_COAD_TCGA-AY-6197-01.png | |
exon_skip_77460_COAD_TCGA-AY-6197-01.png | |
 | Sample: TCGA-BR-8382-01 |
| Cancer type: STAD | |
| ESID: exon_skip_449340 | |
| Skipped exon start: 30610545 | |
| Skipped exon end: 30610788 | |
| Mutation start: 30610619 | |
| Mutation end: 30610619 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.P266fs | |
exon_skip_328488_STAD_TCGA-BR-8382-01.png | |
exon_skip_356108_STAD_TCGA-BR-8382-01.png | |
exon_skip_447012_STAD_TCGA-BR-8382-01.png | |
exon_skip_447029_STAD_TCGA-BR-8382-01.png | |
exon_skip_449340_STAD_TCGA-BR-8382-01.png | |
exon_skip_517514_STAD_TCGA-BR-8382-01.png | |
| - 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 |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30610545 | 30610788 | 30610687 | 30610695 | In_Frame_Del | GGAGCTGCT | - | p.ELL290del |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 30610545 | 30610788 | 30610553 | 30610553 | Missense_Mutation | G | A | p.V245I |
| SIHA_CERVIX | 30610545 | 30610788 | 30610592 | 30610592 | Missense_Mutation | C | T | p.R258C |
| EWS834_BONE | 30610545 | 30610788 | 30610623 | 30610623 | Missense_Mutation | C | G | p.P268R |
| A253_SALIVARY_GLAND | 30610545 | 30610788 | 30610718 | 30610718 | Missense_Mutation | C | T | p.P300S |
| ESS1_ENDOMETRIUM | 30610545 | 30610788 | 30610739 | 30610739 | Missense_Mutation | C | A | p.L307M |
| SNU81_LARGE_INTESTINE | 30610545 | 30610788 | 30610779 | 30610779 | Missense_Mutation | G | A | p.R320H |
| HEC108_ENDOMETRIUM | 30610545 | 30610788 | 30610655 | 30610655 | Nonsense_Mutation | C | T | p.R279* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATAT1 |
| 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 ATAT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATAT1 |
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RelatedDrugs for ATAT1 |
| 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 |
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RelatedDiseases for ATAT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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