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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 STAM |
 Gene summary |
| Gene information | Gene symbol | STAM | Gene ID | 8027 |
| Gene name | signal transducing adaptor molecule | |
| Synonyms | STAM-1|STAM1 | |
| Cytomap | 10p12.33 | |
| Type of gene | protein-coding | |
| Description | signal transducing adapter molecule 1HSE1 homologsignal transducing adaptor molecule (SH3 domain and ITAM motif) 1 | |
| Modification date | 20180522 | |
| UniProtAcc | Q92783 | |
| Context | PubMed: STAM [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 STAM 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 STAM |
| 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 STAM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39946 | 10 | 17686263:17686378:17702462:17702547:17730025:17730156 | 17702462:17702547 | ENSG00000136738.10 | ENST00000540523.1 |
| exon_skip_39950 | 10 | 17702462:17702547:17714973:17715077:17726673:17726749 | 17714973:17715077 | ENSG00000136738.10 | ENST00000445846.1 |
| exon_skip_39955 | 10 | 17702462:17702547:17730025:17730172:17735220:17735280 | 17730025:17730172 | ENSG00000136738.10 | ENST00000540523.1 |
| exon_skip_39958 | 10 | 17726673:17726749:17726830:17726926:17730025:17730156 | 17726830:17726926 | ENSG00000136738.10 | ENST00000445846.1,ENST00000377524.3 |
| exon_skip_39961 | 10 | 17730025:17730172:17735220:17735311:17737047:17737240 | 17735220:17735311 | ENSG00000136738.10 | ENST00000540523.1,ENST00000377500.1,ENST00000377524.3 |
| exon_skip_39962 | 10 | 17738773:17738868:17742189:17742278:17746429:17746517 | 17742189:17742278 | ENSG00000136738.10 | ENST00000540523.1,ENST00000377524.3 |
| exon_skip_39964 | 10 | 17746429:17746517:17746968:17747023:17747586:17747740 | 17746968:17747023 | ENSG00000136738.10 | ENST00000540523.1,ENST00000377524.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STAM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39946 | 10 | 17686263:17686378:17702462:17702547:17730025:17730156 | 17702462:17702547 | ENSG00000136738.10 | ENST00000540523.1 |
| exon_skip_39949 | 10 | 17686263:17686378:17730025:17730172:17735220:17735280 | 17730025:17730172 | ENSG00000136738.10 | ENST00000377500.1 |
| exon_skip_39950 | 10 | 17702462:17702547:17714973:17715077:17726673:17726749 | 17714973:17715077 | ENSG00000136738.10 | ENST00000445846.1 |
| exon_skip_39955 | 10 | 17702462:17702547:17730025:17730172:17735220:17735280 | 17730025:17730172 | ENSG00000136738.10 | ENST00000540523.1 |
| exon_skip_39958 | 10 | 17726673:17726749:17726830:17726926:17730025:17730156 | 17726830:17726926 | ENSG00000136738.10 | ENST00000377524.3,ENST00000445846.1 |
| exon_skip_39961 | 10 | 17730025:17730172:17735220:17735311:17737047:17737240 | 17735220:17735311 | ENSG00000136738.10 | ENST00000377524.3,ENST00000377500.1,ENST00000540523.1 |
| exon_skip_39962 | 10 | 17738773:17738868:17742189:17742278:17746429:17746517 | 17742189:17742278 | ENSG00000136738.10 | ENST00000377524.3,ENST00000540523.1 |
| exon_skip_39964 | 10 | 17746429:17746517:17746968:17747023:17747586:17747740 | 17746968:17747023 | ENSG00000136738.10 | ENST00000377524.3,ENST00000540523.1 |
| 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 STAM |
| 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 |
| ENST00000377524 | 17735220 | 17735311 | Frame-shift |
| ENST00000377524 | 17742189 | 17742278 | Frame-shift |
| ENST00000377524 | 17746968 | 17747023 | Frame-shift |
| ENST00000377524 | 17726830 | 17726926 | 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 |
| ENST00000377524 | 17735220 | 17735311 | Frame-shift |
| ENST00000377524 | 17742189 | 17742278 | Frame-shift |
| ENST00000377524 | 17746968 | 17747023 | Frame-shift |
| ENST00000377524 | 17726830 | 17726926 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STAM |
| 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 |
| ENST00000377524 | 2989 | 540 | 17726830 | 17726926 | 417 | 512 | 67 | 99 |
| 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 |
| ENST00000377524 | 2989 | 540 | 17726830 | 17726926 | 417 | 512 | 67 | 99 |
| 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 |
| Q92783 | 67 | 99 | 2 | 540 | Chain | ID=PRO_0000190145;Note=Signal transducing adapter molecule 1 |
| Q92783 | 67 | 99 | 16 | 143 | Domain | Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00218 |
| Q92783 | 67 | 99 | 59 | 75 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LDZ |
| Q92783 | 67 | 99 | 78 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LDZ |
| Q92783 | 67 | 99 | 87 | 99 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LDZ |
| 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 |
| Q92783 | 67 | 99 | 2 | 540 | Chain | ID=PRO_0000190145;Note=Signal transducing adapter molecule 1 |
| Q92783 | 67 | 99 | 16 | 143 | Domain | Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00218 |
| Q92783 | 67 | 99 | 59 | 75 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LDZ |
| Q92783 | 67 | 99 | 78 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LDZ |
| Q92783 | 67 | 99 | 87 | 99 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LDZ |
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SNVs in the skipped exons for STAM |
| - 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-DD-A39Y-01 | exon_skip_39946 | 17702463 | 17702547 | 17702508 | 17702508 | Frame_Shift_Del | T | - | p.I29fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_39946 | 17702463 | 17702547 | 17702508 | 17702508 | Frame_Shift_Del | T | - | p.I29fs |
| LUSC | TCGA-46-3765-01 | exon_skip_39955 | 17730026 | 17730172 | 17730044 | 17730044 | Nonsense_Mutation | G | T | p.E106* |
| BLCA | TCGA-4Z-AA7R-01 | exon_skip_39955 | 17730026 | 17730172 | 17730072 | 17730072 | Nonsense_Mutation | G | A | p.W115* |
| BLCA | TCGA-4Z-AA7R-01 | exon_skip_39955 | 17730026 | 17730172 | 17730073 | 17730073 | Nonsense_Mutation | G | A | p.W115* |
| BRCA | TCGA-A2-A0CX-01 | exon_skip_39946 | 17702463 | 17702547 | 17702462 | 17702462 | Splice_Site | G | C | e2-1 |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 17702463 | 17702547 | 17702480 | 17702480 | Missense_Mutation | A | T | p.M20L |
| CW2_LARGE_INTESTINE | 17726831 | 17726926 | 17726915 | 17726915 | Missense_Mutation | G | A | p.V96I |
| TGW_AUTONOMIC_GANGLIA | 17730026 | 17730172 | 17730144 | 17730144 | Missense_Mutation | G | C | p.G139A |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17730026 | 17730172 | 17730150 | 17730150 | Missense_Mutation | C | T | p.T141M |
| SNU1040_LARGE_INTESTINE | 17735221 | 17735311 | 17735239 | 17735239 | Missense_Mutation | G | A | p.A155T |
| SNUC2A_LARGE_INTESTINE | 17735221 | 17735311 | 17735243 | 17735243 | Missense_Mutation | G | A | p.S156N |
| SNUC2B_LARGE_INTESTINE | 17735221 | 17735311 | 17735243 | 17735243 | Missense_Mutation | G | A | p.S156N |
| OC316_OVARY | 17735221 | 17735311 | 17735276 | 17735276 | Missense_Mutation | T | C | p.V167A |
| OC314_OVARY | 17735221 | 17735311 | 17735276 | 17735276 | Missense_Mutation | T | C | p.V167A |
| TE12_OESOPHAGUS | 17742190 | 17742278 | 17742208 | 17742208 | Missense_Mutation | C | T | p.T281M |
| NCIH1793_LUNG | 17746969 | 17747023 | 17746978 | 17746978 | Missense_Mutation | A | G | p.H337R |
| NCIH1793_LUNG | 17746969 | 17747023 | 17746992 | 17746992 | Missense_Mutation | C | G | p.L342V |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17746969 | 17747023 | 17746999 | 17746999 | Missense_Mutation | A | G | p.D344G |
| HS863T_FIBROBLAST | 17746969 | 17747023 | 17747017 | 17747017 | Missense_Mutation | T | C | p.I350T |
| NCIH322_LUNG | 17735221 | 17735311 | 17735310 | 17735310 | Splice_Site | A | T | p.K178N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAM |
| 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 STAM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STAM |
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RelatedDrugs for STAM |
| 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 STAM |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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