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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 FAM183A |
 Gene summary |
| Gene information | Gene symbol | FAM183A | Gene ID | 440585 |
| Gene name | family with sequence similarity 183 member A | |
| Synonyms | - | |
| Cytomap | 1p34.2 | |
| Type of gene | protein-coding | |
| Description | protein FAM183AhCG23177 | |
| Modification date | 20180523 | |
| UniProtAcc | A6NL82 | |
| Context | PubMed: FAM183A [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 FAM183A 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 FAM183A |
| 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 FAM183A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_4972 | 1 | 43616431:43616491:43618498:43618602:43621876:43621950 | 43618498:43618602 | ENSG00000186973.6 | ENST00000410048.1,ENST00000335282.4,ENST00000410025.1 |
| exon_skip_4973 | 1 | 43616431:43616491:43618498:43618650:43621876:43621950 | 43618498:43618650 | ENSG00000186973.6 | ENST00000409396.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM183A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_4972 | 1 | 43616431:43616491:43618498:43618602:43621876:43621950 | 43618498:43618602 | ENSG00000186973.6 | ENST00000410048.1,ENST00000410025.1,ENST00000335282.4 |
| exon_skip_4973 | 1 | 43616431:43616491:43618498:43618650:43621876:43621950 | 43618498:43618650 | ENSG00000186973.6 | ENST00000409396.1 |
| 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 FAM183A |
| 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 |
| ENST00000335282 | 43618498 | 43618602 | Frame-shift |
| 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 |
| ENST00000335282 | 43618498 | 43618602 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FAM183A |
| 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 FAM183A |
| - 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-G3-A3CJ-01 | exon_skip_4972 | 43618499 | 43618602 | 43618529 | 43618529 | Frame_Shift_Del | C | - | p.A47fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_4973 | 43618499 | 43618650 | 43618529 | 43618529 | Frame_Shift_Del | C | - | p.A47fs |
| - 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 |
| NCIH513_PLEURA | 43618499 | 43618650 | 43618576 | 43618576 | Missense_Mutation | G | C | p.E91Q |
| NCIH513_PLEURA | 43618499 | 43618602 | 43618576 | 43618576 | Missense_Mutation | G | C | p.E91Q |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43618499 | 43618650 | 43618579 | 43618579 | Missense_Mutation | G | A | p.V92I |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43618499 | 43618602 | 43618579 | 43618579 | Missense_Mutation | G | A | p.V92I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM183A |
| 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 FAM183A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM183A |
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RelatedDrugs for FAM183A |
| 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 FAM183A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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