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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 ALDH16A1 |
 Gene summary |
| Gene information | Gene symbol | ALDH16A1 | Gene ID | 126133 |
| Gene name | aldehyde dehydrogenase 16 family member A1 | |
| Synonyms | - | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | aldehyde dehydrogenase family 16 member A1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IZ83 | |
| Context | PubMed: ALDH16A1 [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 |
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Exon skipping events across known transcript of Ensembl for ALDH16A1 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 ALDH16A1 |
| 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 ALDH16A1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_309262 | 19 | 49956555:49956678:49961742:49961845:49962216:49962343 | 49961742:49961845 | ENSG00000161618.5 | ENST00000599652.1,ENST00000455361.2 |
| exon_skip_309263 | 19 | 49956555:49956678:49961742:49961845:49962926:49962987 | 49961742:49961845 | ENSG00000161618.5 | ENST00000598015.1 |
| exon_skip_309265 | 19 | 49956555:49956678:49962926:49963105:49964078:49964156 | 49962926:49963105 | ENSG00000161618.5 | ENST00000433981.2,ENST00000593417.1 |
| exon_skip_309266 | 19 | 49961742:49961845:49962216:49962343:49962926:49962981 | 49962216:49962343 | ENSG00000161618.5 | ENST00000599652.1,ENST00000293350.4,ENST00000455361.2 |
| exon_skip_309269 | 19 | 49964078:49964156:49964875:49965057:49965140:49965293 | 49964875:49965057 | ENSG00000161618.5 | ENST00000433981.2,ENST00000540132.1,ENST00000593417.1,ENST00000293350.4 |
| exon_skip_309271 | 19 | 49964875:49965057:49965140:49965293:49965826:49966012 | 49965140:49965293 | ENSG00000161618.5 | ENST00000433981.2,ENST00000540132.1,ENST00000593417.1,ENST00000293350.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ALDH16A1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_309262 | 19 | 49956555:49956678:49961742:49961845:49962216:49962343 | 49961742:49961845 | ENSG00000161618.5 | ENST00000599652.1,ENST00000455361.2 |
| exon_skip_309263 | 19 | 49956555:49956678:49961742:49961845:49962926:49962987 | 49961742:49961845 | ENSG00000161618.5 | ENST00000598015.1 |
| exon_skip_309265 | 19 | 49956555:49956678:49962926:49963105:49964078:49964156 | 49962926:49963105 | ENSG00000161618.5 | ENST00000593417.1,ENST00000433981.2 |
| exon_skip_309266 | 19 | 49961742:49961845:49962216:49962343:49962926:49962981 | 49962216:49962343 | ENSG00000161618.5 | ENST00000293350.4,ENST00000599652.1,ENST00000455361.2 |
| exon_skip_309269 | 19 | 49964078:49964156:49964875:49965057:49965140:49965293 | 49964875:49965057 | ENSG00000161618.5 | ENST00000293350.4,ENST00000540132.1,ENST00000593417.1,ENST00000433981.2 |
| exon_skip_309271 | 19 | 49964875:49965057:49965140:49965293:49965826:49966012 | 49965140:49965293 | ENSG00000161618.5 | ENST00000293350.4,ENST00000540132.1,ENST00000593417.1,ENST00000433981.2 |
| 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 ALDH16A1 |
| 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 |
| ENST00000293350 | 49962216 | 49962343 | Frame-shift |
| ENST00000293350 | 49964875 | 49965057 | Frame-shift |
| ENST00000293350 | 49965140 | 49965293 | 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 |
| ENST00000293350 | 49962216 | 49962343 | Frame-shift |
| ENST00000293350 | 49964875 | 49965057 | Frame-shift |
| ENST00000293350 | 49965140 | 49965293 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ALDH16A1 |
| 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 |
| ENST00000293350 | 3170 | 802 | 49965140 | 49965293 | 923 | 1075 | 253 | 304 |
| 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 |
| ENST00000293350 | 3170 | 802 | 49965140 | 49965293 | 923 | 1075 | 253 | 304 |
| 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 |
| Q8IZ83 | 253 | 304 | 254 | 308 | Alternative sequence | ID=VSP_029982;Note=In isoform 2. EGRALRRSLAGECAELGLALGTESLLLLTDTADVDSAVEGVVDAAWSDRGPGGLR->VPSGQGSWRNAAGGRKAPPAAELGGVPRKGVPFDGAWRESVRSWAWRWGRSRCCC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q8IZ83 | 253 | 304 | 254 | 304 | Alternative sequence | ID=VSP_043280;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IZ83 | 253 | 304 | 1 | 802 | Chain | ID=PRO_0000312986;Note=Aldehyde dehydrogenase family 16 member A1 |
| 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 |
| Q8IZ83 | 253 | 304 | 254 | 308 | Alternative sequence | ID=VSP_029982;Note=In isoform 2. EGRALRRSLAGECAELGLALGTESLLLLTDTADVDSAVEGVVDAAWSDRGPGGLR->VPSGQGSWRNAAGGRKAPPAAELGGVPRKGVPFDGAWRESVRSWAWRWGRSRCCC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q8IZ83 | 253 | 304 | 254 | 304 | Alternative sequence | ID=VSP_043280;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IZ83 | 253 | 304 | 1 | 802 | Chain | ID=PRO_0000312986;Note=Aldehyde dehydrogenase family 16 member A1 |
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SNVs in the skipped exons for ALDH16A1 |
| - 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-A39Y-01 | exon_skip_309265 | 49962927 | 49963105 | 49963074 | 49963074 | Frame_Shift_Del | G | - | p.Q156fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_309269 | 49964876 | 49965057 | 49964952 | 49964952 | Frame_Shift_Del | C | - | p.G218fs |
| STAD | TCGA-HU-A4H5-01 | exon_skip_309271 | 49965141 | 49965293 | 49965150 | 49965150 | Frame_Shift_Del | G | - | p.A257fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_309271 | 49965141 | 49965293 | 49965151 | 49965151 | Frame_Shift_Del | C | - | p.A257fs |
| COAD | TCGA-AY-6197-01 | exon_skip_309271 | 49965141 | 49965293 | 49965236 | 49965236 | Frame_Shift_Del | G | - | p.A285fs |
| LUSC | TCGA-21-5787-01 | exon_skip_309265 | 49962927 | 49963105 | 49962966 | 49962966 | Nonsense_Mutation | G | A | p.W120* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_309265 | 49962927 | 49963105 | 49963000 | 49963000 | Nonsense_Mutation | C | T | p.R132* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_309265 | 49962927 | 49963105 | 49963000 | 49963000 | Nonsense_Mutation | C | T | p.R132X |
| SKCM | TCGA-BF-A1Q0-01 | exon_skip_309265 | 49962927 | 49963105 | 49963009 | 49963009 | Nonsense_Mutation | C | T | p.R135* |
| - 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49961743 | 49961845 | 49961764 | 49961764 | Missense_Mutation | C | T | p.R38W |
| NCIH727_LUNG | 49962217 | 49962343 | 49962283 | 49962283 | Missense_Mutation | G | A | p.R87K |
| HCC2998_LARGE_INTESTINE | 49962217 | 49962343 | 49962319 | 49962319 | Missense_Mutation | T | G | p.V99G |
| MDAPCA2B_PROSTATE | 49962927 | 49963105 | 49962955 | 49962955 | Missense_Mutation | C | T | p.R117W |
| P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49964876 | 49965057 | 49964902 | 49964902 | Missense_Mutation | C | T | p.P202S |
| LN340_CENTRAL_NERVOUS_SYSTEM | 49964876 | 49965057 | 49964939 | 49964939 | Missense_Mutation | C | G | p.A214G |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49964876 | 49965057 | 49964962 | 49964962 | Missense_Mutation | G | A | p.G222R |
| VMCUB1_URINARY_TRACT | 49964876 | 49965057 | 49965027 | 49965027 | Missense_Mutation | C | G | p.I243M |
| SCLC22H_LUNG | 49964876 | 49965057 | 49965035 | 49965036 | Missense_Mutation | TG | CT | p.V246A |
| 2313287_STOMACH | 49965141 | 49965293 | 49965147 | 49965147 | Missense_Mutation | C | T | p.R256C |
| SNU620_STOMACH | 49965141 | 49965293 | 49965151 | 49965151 | Missense_Mutation | C | A | p.A257D |
| NCIH358_LUNG | 49965141 | 49965293 | 49965169 | 49965169 | Missense_Mutation | C | T | p.A263V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49965141 | 49965293 | 49965169 | 49965169 | Missense_Mutation | C | T | p.A263V |
| SCLC22H_LUNG | 49965141 | 49965293 | 49965282 | 49965282 | Missense_Mutation | G | A | p.D301N |
| SCLC21H_LUNG | 49965141 | 49965293 | 49965282 | 49965282 | Missense_Mutation | G | A | p.D301N |
| NCIH1339_LUNG | 49962217 | 49962343 | 49962273 | 49962273 | Nonsense_Mutation | G | T | p.E84* |
| JHUEM7_ENDOMETRIUM | 49962927 | 49963105 | 49963000 | 49963000 | Nonsense_Mutation | C | T | p.R132* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALDH16A1 |
| 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_309271 | 19 | 49964875:49965057:49965140:49965293:49965826:49966012 | 49965140:49965293 | ENST00000433981.2,ENST00000540132.1,ENST00000593417.1,ENST00000293350.4 | MESO | rs7259560 | chr19:49965173 | A/T | 7.99e-07 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALDH16A1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALDH16A1 |
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RelatedDrugs for ALDH16A1 |
| 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 ALDH16A1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ALDH16A1 | C0018099 | Gout | 1 | CTD_human |
| ALDH16A1 | C0268117 | Gout, HPRT-Related | 1 | CTD_human |
| ALDH16A1 | C0740394 | Hyperuricemia | 1 | CTD_human |
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