|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for SAV1 |
 Gene summary |
| Gene information | Gene symbol | SAV1 | Gene ID | 60485 |
| Gene name | salvador family WW domain containing protein 1 | |
| Synonyms | SAV|WW45|WWP4 | |
| Cytomap | 14q22.1 | |
| Type of gene | protein-coding | |
| Description | protein salvador homolog 11700040G09Rik45 kDa WW domain proteinWW domain-containing adaptor 45hWW45salvador homolog 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H4B6 | |
| Context | PubMed: SAV1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for SAV1 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. |
 |
Top |
Gene isoform structures and expression levels for SAV1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SAV1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113218 | 14 | 51101931:51102102:51107467:51107611:51111461:51111527 | 51107467:51107611 | ENSG00000151748.10 | ENST00000324679.4,ENST00000555720.1 |
| exon_skip_113221 | 14 | 51107467:51107611:51111461:51111732:51131896:51132083 | 51111461:51111732 | ENSG00000151748.10 | ENST00000324679.4 |
| exon_skip_113224 | 14 | 51111461:51111732:51131896:51132337:51134591:51135015 | 51131896:51132337 | ENSG00000151748.10 | ENST00000324679.4 |
| exon_skip_113225 | 14 | 51132318:51132337:51134099:51134218:51134591:51135015 | 51134099:51134218 | ENSG00000151748.10 | ENST00000556735.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SAV1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113218 | 14 | 51101931:51102102:51107467:51107611:51111461:51111527 | 51107467:51107611 | ENSG00000151748.10 | ENST00000555720.1,ENST00000324679.4 |
| exon_skip_113221 | 14 | 51107467:51107611:51111461:51111732:51131896:51132083 | 51111461:51111732 | ENSG00000151748.10 | ENST00000324679.4 |
| exon_skip_113224 | 14 | 51111461:51111732:51131896:51132337:51134591:51135015 | 51131896:51132337 | ENSG00000151748.10 | ENST00000324679.4 |
| exon_skip_113225 | 14 | 51132318:51132337:51134099:51134218:51134591:51135015 | 51134099:51134218 | ENSG00000151748.10 | ENST00000556735.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SAV1 |
| 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 |
| ENST00000324679 | 51111461 | 51111732 | Frame-shift |
| ENST00000324679 | 51107467 | 51107611 | In-frame |
| ENST00000324679 | 51131896 | 51132337 | 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 |
| ENST00000324679 | 51111461 | 51111732 | Frame-shift |
| ENST00000324679 | 51107467 | 51107611 | In-frame |
| ENST00000324679 | 51131896 | 51132337 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SAV1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000324679 | 3080 | 383 | 51131896 | 51132337 | 459 | 899 | 31 | 178 |
| ENST00000324679 | 3080 | 383 | 51107467 | 51107611 | 1171 | 1314 | 269 | 316 |
| 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 |
| ENST00000324679 | 3080 | 383 | 51131896 | 51132337 | 459 | 899 | 31 | 178 |
| ENST00000324679 | 3080 | 383 | 51107467 | 51107611 | 1171 | 1314 | 269 | 316 |
| 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 |
| Q9H4B6 | 31 | 178 | 1 | 383 | Chain | ID=PRO_0000076060;Note=Protein salvador homolog 1 |
| Q9H4B6 | 31 | 178 | 94 | 94 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9H4B6 | 31 | 178 | 136 | 136 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VEB2 |
| Q9H4B6 | 269 | 316 | 316 | 319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6AO5 |
| Q9H4B6 | 269 | 316 | 1 | 383 | Chain | ID=PRO_0000076060;Note=Protein salvador homolog 1 |
| Q9H4B6 | 269 | 316 | 298 | 300 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6AO5 |
| Q9H4B6 | 269 | 316 | 306 | 313 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6AO5 |
| Q9H4B6 | 269 | 316 | 292 | 292 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9H4B6 | 31 | 178 | 1 | 383 | Chain | ID=PRO_0000076060;Note=Protein salvador homolog 1 |
| Q9H4B6 | 31 | 178 | 94 | 94 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9H4B6 | 31 | 178 | 136 | 136 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VEB2 |
| Q9H4B6 | 269 | 316 | 316 | 319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6AO5 |
| Q9H4B6 | 269 | 316 | 1 | 383 | Chain | ID=PRO_0000076060;Note=Protein salvador homolog 1 |
| Q9H4B6 | 269 | 316 | 298 | 300 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6AO5 |
| Q9H4B6 | 269 | 316 | 306 | 313 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6AO5 |
| Q9H4B6 | 269 | 316 | 292 | 292 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
SNVs in the skipped exons for SAV1 |
| - 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 |
| KIRP | TCGA-G7-A8LC-01 | exon_skip_113224 | 51131897 | 51132337 | 51131967 | 51131967 | Frame_Shift_Del | G | - | p.Y156fs |
| KIRP | TCGA-HE-A5NK-01 | exon_skip_113224 | 51131897 | 51132337 | 51132105 | 51132106 | Frame_Shift_Del | CT | - | p.109_110del |
| KIRP | TCGA-HE-A5NK-01 | exon_skip_113224 | 51131897 | 51132337 | 51132105 | 51132106 | Frame_Shift_Del | CT | - | p.E109fs |
| KIRP | TCGA-B3-3926-01 | exon_skip_113224 | 51131897 | 51132337 | 51132122 | 51132129 | Frame_Shift_Del | CTAGACTT | - | p.102_104del |
| KIRP | TCGA-B3-3926-01 | exon_skip_113224 | 51131897 | 51132337 | 51132122 | 51132129 | Frame_Shift_Del | CTAGACTT | - | p.R101fs |
| KIRP | TCGA-B3-3926-01 | exon_skip_113224 | 51131897 | 51132337 | 51132122 | 51132129 | Frame_Shift_Del | CTAGACTT | - | p.RSLA101fs |
| HNSC | TCGA-CN-6018-01 | exon_skip_113224 | 51131897 | 51132337 | 51132173 | 51132173 | Frame_Shift_Del | T | - | p.R87fs |
| HNSC | TCGA-CN-6018-01 | exon_skip_113224 | 51131897 | 51132337 | 51132173 | 51132173 | Frame_Shift_Del | T | - | p.R88fs |
| KIRP | TCGA-G7-6789-01 | exon_skip_113224 | 51131897 | 51132337 | 51132011 | 51132012 | Frame_Shift_Ins | - | A | p.D141_G142delinsX |
| KIRP | TCGA-G7-6789-01 | exon_skip_113224 | 51131897 | 51132337 | 51132011 | 51132012 | Frame_Shift_Ins | - | A | p.F140fs |
| KIRP | TCGA-G7-6789-01 | exon_skip_113224 | 51131897 | 51132337 | 51132011 | 51132012 | Frame_Shift_Ins | - | A | p.LW140fs |
| CHOL | TCGA-ZU-A8S4-01 | exon_skip_113218 | 51107468 | 51107611 | 51107521 | 51107521 | Nonsense_Mutation | A | C | p.Y299* |
| STAD | TCGA-BR-4368-01 | exon_skip_113221 | 51111462 | 51111732 | 51111571 | 51111571 | Nonsense_Mutation | G | A | p.R233* |
| STAD | TCGA-BR-4368-01 | exon_skip_113221 | 51111462 | 51111732 | 51111571 | 51111571 | Nonsense_Mutation | G | A | p.R233X |
| KIRC | TCGA-CW-6087-01 | exon_skip_113224 | 51131897 | 51132337 | 51131954 | 51131954 | Nonsense_Mutation | C | A | p.E160X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_113224 | 51131897 | 51132337 | 51132005 | 51132005 | Nonsense_Mutation | G | A | p.Q143* |
| LUAD | TCGA-95-7944-01 | exon_skip_113224 | 51131897 | 51132337 | 51132059 | 51132059 | Nonsense_Mutation | C | A | p.E125* |
| LUAD | TCGA-55-1594-01 | exon_skip_113224 | 51131897 | 51132337 | 51132088 | 51132088 | Nonsense_Mutation | G | C | p.S115* |
| MESO | TCGA-3H-AB3S-01 | exon_skip_113224 | 51131897 | 51132337 | 51132154 | 51132154 | Nonsense_Mutation | A | C | p.L93* |
| - 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 |
| EGI1_BILIARY_TRACT | 51107468 | 51107611 | 51107534 | 51107534 | Frame_Shift_Del | G | - | p.P295fs |
| DU145_PROSTATE | 51131897 | 51132337 | 51132011 | 51132012 | Frame_Shift_Ins | - | A | p.D141fs |
| ASPC1_PANCREAS | 51131897 | 51132337 | 51131955 | 51131957 | In_Frame_Del | ATA | - | p.Y159del |
| NCIH820_LUNG | 51131897 | 51132337 | 51131955 | 51131957 | In_Frame_Del | ATA | - | p.Y159del |
| JL1_PLEURA | 51107468 | 51107611 | 51107490 | 51107490 | Missense_Mutation | C | G | p.V310L |
| NCIH1770_LUNG | 51107468 | 51107611 | 51107604 | 51107604 | Missense_Mutation | G | A | p.R272W |
| NCIH2106_LUNG | 51107468 | 51107611 | 51107604 | 51107604 | Missense_Mutation | G | A | p.R272W |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51111462 | 51111732 | 51111534 | 51111534 | Missense_Mutation | G | A | p.S245L |
| MDAPCA2B_PROSTATE | 51111462 | 51111732 | 51111537 | 51111537 | Missense_Mutation | T | C | p.E244G |
| BT483_BREAST | 51111462 | 51111732 | 51111681 | 51111681 | Missense_Mutation | G | A | p.S196F |
| HCT15_LARGE_INTESTINE | 51111462 | 51111732 | 51111714 | 51111714 | Missense_Mutation | G | T | p.A185D |
| HUH28_BILIARY_TRACT | 51131897 | 51132337 | 51131924 | 51131924 | Missense_Mutation | G | A | p.P170S |
| NCIH2110_LUNG | 51131897 | 51132337 | 51132077 | 51132077 | Missense_Mutation | C | G | p.E119Q |
| PEDS005TPFAD_KIDNEY | 51131897 | 51132337 | 51132134 | 51132134 | Missense_Mutation | C | G | p.A100P |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51131897 | 51132337 | 51132149 | 51132149 | Missense_Mutation | C | T | p.A95T |
| TGW_AUTONOMIC_GANGLIA | 51131897 | 51132337 | 51132239 | 51132239 | Missense_Mutation | C | T | p.D65N |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51131897 | 51132337 | 51132250 | 51132250 | Missense_Mutation | G | A | p.S61L |
| SW900_LUNG | 51131897 | 51132337 | 51132284 | 51132284 | Missense_Mutation | T | C | p.I50V |
| HS611T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51131897 | 51132337 | 51132313 | 51132313 | Missense_Mutation | T | C | p.H40R |
| HLE_LIVER | 51107468 | 51107611 | 51107599 | 51107599 | Nonsense_Mutation | A | C | p.Y273* |
| HLF_LIVER | 51107468 | 51107611 | 51107599 | 51107599 | Nonsense_Mutation | A | C | p.Y273* |
| NCIH1651_LUNG | 51131897 | 51132337 | 51131933 | 51131933 | Nonsense_Mutation | G | A | p.Q167* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAV1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAV1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAV1 |
Top |
RelatedDrugs for SAV1 |
| 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 |
Top |
RelatedDiseases for SAV1 |
| 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)
|