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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 FAM50A |
 Gene summary |
| Gene information | Gene symbol | FAM50A | Gene ID | 9130 |
| Gene name | family with sequence similarity 50 member A | |
| Synonyms | 9F|DXS9928E|HXC-26|HXC26|XAP5 | |
| Cytomap | Xq28 | |
| Type of gene | protein-coding | |
| Description | protein FAM50Aprotein XAP-5 | |
| Modification date | 20180519 | |
| UniProtAcc | Q14320 | |
| Context | PubMed: FAM50A [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 FAM50A 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 FAM50A |
| 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 FAM50A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513287 | X | 153673980:153674065:153674159:153674259:153674762:153674908 | 153674159:153674259 | ENSG00000071859.10 | ENST00000464419.1,ENST00000481619.1,ENST00000158526.9,ENST00000393600.3 |
| exon_skip_513293 | X | 153677037:153677104:153677240:153677302:153677568:153677645 | 153677240:153677302 | ENSG00000071859.10 | ENST00000464419.1,ENST00000158526.9,ENST00000393600.3 |
| exon_skip_513298 | X | 153677240:153677302:153677568:153677645:153678028:153678083 | 153677568:153677645 | ENSG00000071859.10 | ENST00000464419.1,ENST00000158526.9,ENST00000393600.3 |
| exon_skip_513300 | X | 153678028:153678083:153678230:153678279:153678376:153678447 | 153678230:153678279 | ENSG00000071859.10 | ENST00000158526.9,ENST00000393600.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM50A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513287 | X | 153673980:153674065:153674159:153674259:153674762:153674908 | 153674159:153674259 | ENSG00000071859.10 | ENST00000393600.3,ENST00000464419.1,ENST00000481619.1,ENST00000158526.9 |
| exon_skip_513293 | X | 153677037:153677104:153677240:153677302:153677568:153677645 | 153677240:153677302 | ENSG00000071859.10 | ENST00000393600.3,ENST00000464419.1,ENST00000158526.9 |
| exon_skip_513298 | X | 153677240:153677302:153677568:153677645:153678028:153678083 | 153677568:153677645 | ENSG00000071859.10 | ENST00000393600.3,ENST00000464419.1,ENST00000158526.9 |
| exon_skip_513300 | X | 153678028:153678083:153678230:153678279:153678376:153678447 | 153678230:153678279 | ENSG00000071859.10 | ENST00000393600.3,ENST00000158526.9 |
| 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 FAM50A |
| 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 |
| ENST00000393600 | 153674159 | 153674259 | Frame-shift |
| ENST00000393600 | 153677240 | 153677302 | Frame-shift |
| ENST00000393600 | 153677568 | 153677645 | Frame-shift |
| ENST00000393600 | 153678230 | 153678279 | 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 |
| ENST00000393600 | 153674159 | 153674259 | Frame-shift |
| ENST00000393600 | 153677240 | 153677302 | Frame-shift |
| ENST00000393600 | 153677568 | 153677645 | Frame-shift |
| ENST00000393600 | 153678230 | 153678279 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FAM50A |
| 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 FAM50A |
| - 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 |
| CESC | TCGA-DS-A7WH-01 | exon_skip_513298 | 153677569 | 153677645 | 153677568 | 153677568 | Splice_Site | G | A | e8-1 |
| - 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 |
| OVCAR4_OVARY | 153677241 | 153677302 | 153677297 | 153677297 | Missense_Mutation | G | A | p.V215I |
| HCC2998_LARGE_INTESTINE | 153677569 | 153677645 | 153677623 | 153677623 | Missense_Mutation | C | T | p.R235W |
| IM95_STOMACH | 153678231 | 153678279 | 153678267 | 153678267 | Missense_Mutation | C | T | p.R273W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM50A |
| 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 FAM50A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM50A |
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RelatedDrugs for FAM50A |
| 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 FAM50A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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