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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 ATXN7 |
 Gene summary |
| Gene information | Gene symbol | ATXN7 | Gene ID | 6314 |
| Gene name | ataxin 7 | |
| Synonyms | ADCAII|OPCA3|SCA7 | |
| Cytomap | 3p14.1 | |
| Type of gene | protein-coding | |
| Description | ataxin-7spinocerebellar ataxia type 7 protein | |
| Modification date | 20180527 | |
| UniProtAcc | O15265 | |
| Context | PubMed: ATXN7 [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 |
| ATXN7 | GO:0016578 | histone deubiquitination | 18206972 |
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Exon skipping events across known transcript of Ensembl for ATXN7 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 ATXN7 |
| 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 ATXN7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_375753 | 3 | 63898274:63898599:63898832:63898901:63938054:63938159 | 63898832:63898901 | ENSG00000163635.13 | ENST00000487717.1,ENST00000474112.1,ENST00000538065.1,ENST00000295900.6,ENST00000398590.3 |
| exon_skip_375759 | 3 | 63898838:63898901:63938054:63938159:63965590:63965843 | 63938054:63938159 | ENSG00000163635.13 | ENST00000487717.1,ENST00000474112.1,ENST00000538065.1,ENST00000295900.6,ENST00000398590.3 |
| exon_skip_375760 | 3 | 63965590:63965843:63967861:63968121:63968614:63968697 | 63967861:63968121 | ENSG00000163635.13 | ENST00000487717.1,ENST00000474112.1,ENST00000484332.1,ENST00000538065.1,ENST00000295900.6,ENST00000398590.3 |
| exon_skip_375761 | 3 | 63973874:63974000:63975851:63976050:63976413:63976535 | 63975851:63976050 | ENSG00000163635.13 | ENST00000487717.1,ENST00000474112.1,ENST00000484668.1,ENST00000484332.1,ENST00000538065.1,ENST00000295900.6,ENST00000398590.3 |
| exon_skip_375762 | 3 | 63981985:63982159:63983296:63983363:63985125:63985230 | 63983296:63983363 | ENSG00000163635.13 | ENST00000522345.1,ENST00000538065.1,ENST00000398590.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATXN7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_375753 | 3 | 63898274:63898599:63898832:63898901:63938054:63938159 | 63898832:63898901 | ENSG00000163635.13 | ENST00000474112.1,ENST00000398590.3,ENST00000295900.6,ENST00000487717.1,ENST00000538065.1 |
| exon_skip_375759 | 3 | 63898838:63898901:63938054:63938159:63965590:63965843 | 63938054:63938159 | ENSG00000163635.13 | ENST00000474112.1,ENST00000398590.3,ENST00000295900.6,ENST00000487717.1,ENST00000538065.1 |
| exon_skip_375760 | 3 | 63965590:63965843:63967861:63968121:63968614:63968697 | 63967861:63968121 | ENSG00000163635.13 | ENST00000474112.1,ENST00000398590.3,ENST00000295900.6,ENST00000487717.1,ENST00000538065.1,ENST00000484332.1 |
| exon_skip_375761 | 3 | 63973874:63974000:63975851:63976050:63976413:63976535 | 63975851:63976050 | ENSG00000163635.13 | ENST00000474112.1,ENST00000398590.3,ENST00000295900.6,ENST00000487717.1,ENST00000538065.1,ENST00000484332.1,ENST00000484668.1 |
| exon_skip_375762 | 3 | 63981985:63982159:63983296:63983363:63985125:63985230 | 63983296:63983363 | ENSG00000163635.13 | ENST00000398590.3,ENST00000538065.1,ENST00000522345.1 |
| 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 ATXN7 |
| 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 ATXN7 |
| 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 ATXN7 |
| - 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-A3A0-01 | exon_skip_375760 | 63967862 | 63968121 | 63967899 | 63967899 | Frame_Shift_Del | A | - | p.K264fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_375760 | 63967862 | 63968121 | 63967985 | 63967985 | Frame_Shift_Del | C | - | p.C292fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_375761 | 63975852 | 63976050 | 63976004 | 63976004 | Frame_Shift_Del | A | - | p.E505fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_375762 | 63983297 | 63983363 | 63983350 | 63983350 | Frame_Shift_Del | C | - | p.S905fs |
| BLCA | TCGA-CF-A1HR-01 | exon_skip_375759 | 63938055 | 63938159 | 63938123 | 63938123 | Nonsense_Mutation | C | T | p.Q155* |
| LUSC | TCGA-66-2773-01 | exon_skip_375759 | 63938055 | 63938159 | 63938123 | 63938123 | Nonsense_Mutation | C | T | p.Q155* |
| - 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 |
| GMEL_SKIN | 63967862 | 63968121 | 63968058 | 63968067 | Frame_Shift_Del | ACTCTGGAAA | - | p.TLEK317fs |
| FTC238_THYROID | 63967862 | 63968121 | 63967927 | 63967927 | Missense_Mutation | C | T | p.A273V |
| MDAMB453_BREAST | 63967862 | 63968121 | 63967942 | 63967942 | Missense_Mutation | G | C | p.C278S |
| HEC151_ENDOMETRIUM | 63967862 | 63968121 | 63968098 | 63968098 | Missense_Mutation | A | C | p.K330T |
| HCT15_LARGE_INTESTINE | 63975852 | 63976050 | 63975886 | 63975886 | Missense_Mutation | G | A | p.A466T |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 63975852 | 63976050 | 63975896 | 63975896 | Missense_Mutation | A | C | p.D469A |
| NCIH1155_LUNG | 63967862 | 63968121 | 63968022 | 63968022 | Nonsense_Mutation | C | T | p.Q305* |
| DU4475_BREAST | 63938055 | 63938159 | 63938055 | 63938055 | Splice_Site | A | G | p.D132G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATXN7 |
| 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 |
| exon_skip_375760 | 3 | 63965590:63965843:63967861:63968121:63968614:63968697 | 63967861:63968121 | ENST00000487717.1,ENST00000474112.1,ENST00000484332.1,ENST00000538065.1,ENST00000295900.6,ENST00000398590.3 | ESCA | rs1053338 | chr3:63967900 | A/G | 1.03e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATXN7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATXN7 |
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RelatedDrugs for ATXN7 |
| 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 ATXN7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ATXN7 | C0026650 | Movement Disorders | 1 | CTD_human |
| ATXN7 | C0034933 | Reflex, Abnormal | 1 | CTD_human |
| ATXN7 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| ATXN7 | C0042790 | Vision Disorders | 1 | CTD_human |
| ATXN7 | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
| ATXN7 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| ATXN7 | C0751837 | Gait Ataxia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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