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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 FAM98A |
Gene summary |
| Gene information | Gene symbol | FAM98A | Gene ID | 25940 |
| Gene name | family with sequence similarity 98 member A | |
| Synonyms | - | |
| Cytomap | 2p22.3 | |
| Type of gene | protein-coding | |
| Description | protein FAM98A | |
| Modification date | 20180523 | |
| UniProtAcc | Q8NCA5 | |
| Context | PubMed: FAM98A [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 FAM98A 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 FAM98A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for FAM98A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_338245 | 2 | 33809955:33810511:33810596:33810764:33811628:33811745 | 33810596:33810764 | ENSG00000119812.14 | ENST00000441530.2,ENST00000475122.1,ENST00000238823.8 |
| exon_skip_338246 | 2 | 33810596:33810764:33811628:33811745:33812306:33812381 | 33811628:33811745 | ENSG00000119812.14 | ENST00000441530.2,ENST00000238823.8,ENST00000403368.1,ENST00000492649.1 |
| exon_skip_338249 | 2 | 33812306:33812387:33813401:33813586:33817146:33817281 | 33813401:33813586 | ENSG00000119812.14 | ENST00000238823.8,ENST00000403368.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM98A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_338245 | 2 | 33809955:33810511:33810596:33810764:33811628:33811745 | 33810596:33810764 | ENSG00000119812.14 | ENST00000238823.8,ENST00000441530.2,ENST00000475122.1 |
| exon_skip_338246 | 2 | 33810596:33810764:33811628:33811745:33812306:33812381 | 33811628:33811745 | ENSG00000119812.14 | ENST00000238823.8,ENST00000403368.1,ENST00000441530.2,ENST00000492649.1 |
| exon_skip_338249 | 2 | 33812306:33812387:33813401:33813586:33817146:33817281 | 33813401:33813586 | ENSG00000119812.14 | ENST00000238823.8,ENST00000403368.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for FAM98A |
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 FAM98A |
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 FAM98A |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| STAD | TCGA-CG-5721-01 | exon_skip_338245 | 33810597 | 33810764 | 33810704 | 33810704 | Frame_Shift_Del | T | - | p.T261fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_338246 | 33811629 | 33811745 | 33811677 | 33811677 | Frame_Shift_Del | T | - | p.K224fs |
| STAD | TCGA-BR-7851-01 | exon_skip_338249 | 33813402 | 33813586 | 33813525 | 33813525 | Frame_Shift_Del | T | - | p.A134fs |
| COAD | TCGA-G4-6628-01 | exon_skip_338249 | 33813402 | 33813586 | 33813524 | 33813525 | Frame_Shift_Ins | - | T | p.A134fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_338249 | 33813402 | 33813586 | 33813525 | 33813526 | Frame_Shift_Ins | - | T | p.K133fs |
| LIHC | TCGA-CC-A7IE-01 | exon_skip_338245 | 33810597 | 33810764 | 33810623 | 33810623 | Nonsense_Mutation | C | A | p.E288X |
| BLCA | TCGA-BT-A3PJ-01 | exon_skip_338249 | 33813402 | 33813586 | 33813494 | 33813494 | Nonsense_Mutation | G | A | p.Q144* |
- 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 |
| SNU520_STOMACH | 33813402 | 33813586 | 33813525 | 33813525 | Frame_Shift_Del | T | - | p.K133fs |
| EFO27_OVARY | 33813402 | 33813586 | 33813525 | 33813525 | Frame_Shift_Del | T | - | p.K133fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33813402 | 33813586 | 33813525 | 33813525 | Frame_Shift_Del | T | - | p.K133fs |
| COLO205_LARGE_INTESTINE | 33810597 | 33810764 | 33810733 | 33810734 | Frame_Shift_Ins | - | G | p.Q251fs |
| MFE319_ENDOMETRIUM | 33813402 | 33813586 | 33813524 | 33813525 | Frame_Shift_Ins | - | T | p.A134fs |
| SNU1040_LARGE_INTESTINE | 33810597 | 33810764 | 33810607 | 33810607 | Missense_Mutation | G | A | p.A293V |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33810597 | 33810764 | 33810635 | 33810635 | Missense_Mutation | C | T | p.G284S |
| NCIH1915_LUNG | 33810597 | 33810764 | 33810686 | 33810686 | Missense_Mutation | G | A | p.H267Y |
| CL34_LARGE_INTESTINE | 33811629 | 33811745 | 33811663 | 33811663 | Missense_Mutation | G | A | p.T229I |
| EFO27_OVARY | 33813402 | 33813586 | 33813552 | 33813552 | Missense_Mutation | C | T | p.M124I |
| GP2D_LARGE_INTESTINE | 33813402 | 33813586 | 33813402 | 33813402 | Splice_Site | T | - | p.K174fs |
| SNU407_LARGE_INTESTINE | 33813402 | 33813586 | 33813402 | 33813402 | Splice_Site | T | - | p.K174fs |
| GP5D_LARGE_INTESTINE | 33813402 | 33813586 | 33813402 | 33813402 | Splice_Site | T | - | p.K174fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM98A |
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 FAM98A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM98A |
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RelatedDrugs for FAM98A |
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 FAM98A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |