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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 FAM83G |
 Gene summary |
| Gene information | Gene symbol | FAM83G | Gene ID | 644815 |
| Gene name | family with sequence similarity 83 member G | |
| Synonyms | PAWS1 | |
| Cytomap | 17p11.2 | |
| Type of gene | protein-coding | |
| Description | protein FAM83Gprotein associated with SMAD1 | |
| Modification date | 20180519 | |
| UniProtAcc | A6ND36 | |
| Context | PubMed: FAM83G [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 |
| FAM83G | GO:0030509 | BMP signaling pathway | 24554596 |
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Exon skipping events across known transcript of Ensembl for FAM83G 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 FAM83G |
| 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 FAM83G |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_287237 | 17 | 18880896:18882163:18882861:18882986:18891559:18891727 | 18882861:18882986 | ENSG00000188522.10 | ENST00000585154.2,ENST00000345041.4,ENST00000388995.6 |
| exon_skip_287238 | 17 | 18882861:18882986:18891559:18891727:18906832:18907093 | 18891559:18891727 | ENSG00000188522.10 | ENST00000585154.2,ENST00000345041.4,ENST00000399096.2,ENST00000388995.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM83G |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_287237 | 17 | 18880896:18882163:18882861:18882986:18891559:18891727 | 18882861:18882986 | ENSG00000188522.10 | ENST00000388995.6,ENST00000345041.4,ENST00000585154.2 |
| exon_skip_287238 | 17 | 18882861:18882986:18891559:18891727:18906832:18907093 | 18891559:18891727 | ENSG00000188522.10 | ENST00000388995.6,ENST00000345041.4,ENST00000585154.2,ENST00000399096.2 |
| 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 FAM83G |
| 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 |
| ENST00000345041 | 18882861 | 18882986 | Frame-shift |
| ENST00000388995 | 18882861 | 18882986 | Frame-shift |
| ENST00000345041 | 18891559 | 18891727 | In-frame |
| ENST00000388995 | 18891559 | 18891727 | 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 |
| ENST00000345041 | 18882861 | 18882986 | Frame-shift |
| ENST00000388995 | 18882861 | 18882986 | Frame-shift |
| ENST00000345041 | 18891559 | 18891727 | In-frame |
| ENST00000388995 | 18891559 | 18891727 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM83G |
| 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 |
| ENST00000345041 | 2946 | 823 | 18891559 | 18891727 | 689 | 856 | 174 | 230 |
| ENST00000388995 | 5283 | 823 | 18891559 | 18891727 | 747 | 914 | 174 | 230 |
| 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 |
| ENST00000345041 | 2946 | 823 | 18891559 | 18891727 | 689 | 856 | 174 | 230 |
| ENST00000388995 | 5283 | 823 | 18891559 | 18891727 | 747 | 914 | 174 | 230 |
| 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 |
| A6ND36 | 174 | 230 | 1 | 248 | Alternative sequence | ID=VSP_033120;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A6ND36 | 174 | 230 | 1 | 248 | Alternative sequence | ID=VSP_033120;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A6ND36 | 174 | 230 | 2 | 823 | Chain | ID=PRO_0000330817;Note=Protein FAM83G |
| A6ND36 | 174 | 230 | 2 | 823 | Chain | ID=PRO_0000330817;Note=Protein FAM83G |
| 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 |
| A6ND36 | 174 | 230 | 1 | 248 | Alternative sequence | ID=VSP_033120;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A6ND36 | 174 | 230 | 1 | 248 | Alternative sequence | ID=VSP_033120;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A6ND36 | 174 | 230 | 2 | 823 | Chain | ID=PRO_0000330817;Note=Protein FAM83G |
| A6ND36 | 174 | 230 | 2 | 823 | Chain | ID=PRO_0000330817;Note=Protein FAM83G |
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SNVs in the skipped exons for FAM83G |
| - 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 |
| BRCA | TCGA-E2-A15T-01 | exon_skip_287238 | 18891560 | 18891727 | 18891586 | 18891586 | Frame_Shift_Del | C | - | p.A222fs |
| - 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 |
| EN_ENDOMETRIUM | 18882862 | 18882986 | 18882941 | 18882941 | Missense_Mutation | A | T | p.S246T |
| KYSE150_OESOPHAGUS | 18891560 | 18891727 | 18891582 | 18891582 | Missense_Mutation | C | T | p.C223Y |
| HEC59_ENDOMETRIUM | 18891560 | 18891727 | 18891616 | 18891616 | Missense_Mutation | C | T | p.V212I |
| DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18891560 | 18891727 | 18891699 | 18891699 | Missense_Mutation | G | C | p.T184S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM83G |
| 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 FAM83G |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM83G |
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RelatedDrugs for FAM83G |
| 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 FAM83G |
| 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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