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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 OSTM1 |
 Gene summary |
| Gene information | Gene symbol | OSTM1 | Gene ID | 28962 |
| Gene name | osteopetrosis associated transmembrane protein 1 | |
| Synonyms | GIPN|GL|HSPC019|OPTB5 | |
| Cytomap | 6q21 | |
| Type of gene | protein-coding | |
| Description | osteopetrosis-associated transmembrane protein 1CLCN7 accessory beta subunitGAIP-interacting protein N terminuschloride channel 7 beta subunitgrey-lethal osteopetrosis | |
| Modification date | 20180522 | |
| UniProtAcc | Q86WC4 | |
| Context | PubMed: OSTM1 [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 OSTM1 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 OSTM1 |
| 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 OSTM1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_461525 | 6 | 108366034:108366044:108370456:108370622:108372234:108372270 | 108370456:108370622 | ENSG00000081087.10 | ENST00000193322.3,ENST00000440575.2 |
| exon_skip_461528 | 6 | 108370553:108370622:108370735:108370787:108372234:108372270 | 108370735:108370787 | ENSG00000081087.10 | ENST00000472669.1 |
| exon_skip_461529 | 6 | 108370456:108370622:108372234:108372402:108375693:108375791 | 108372234:108372402 | ENSG00000081087.10 | ENST00000193322.3,ENST00000440575.2 |
| exon_skip_461530 | 6 | 108372234:108372402:108375693:108375791:108385388:108385503 | 108375693:108375791 | ENSG00000081087.10 | ENST00000193322.3,ENST00000440575.2 |
| exon_skip_461532 | 6 | 108385388:108385503:108394845:108395002:108395453:108395941 | 108394845:108395002 | ENSG00000081087.10 | ENST00000467960.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for OSTM1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_461525 | 6 | 108366034:108366044:108370456:108370622:108372234:108372270 | 108370456:108370622 | ENSG00000081087.10 | ENST00000193322.3,ENST00000440575.2 |
| exon_skip_461528 | 6 | 108370553:108370622:108370735:108370787:108372234:108372270 | 108370735:108370787 | ENSG00000081087.10 | ENST00000472669.1 |
| exon_skip_461529 | 6 | 108370456:108370622:108372234:108372402:108375693:108375791 | 108372234:108372402 | ENSG00000081087.10 | ENST00000193322.3,ENST00000440575.2 |
| exon_skip_461530 | 6 | 108372234:108372402:108375693:108375791:108385388:108385503 | 108375693:108375791 | ENSG00000081087.10 | ENST00000193322.3,ENST00000440575.2 |
| exon_skip_461532 | 6 | 108385388:108385503:108394845:108395002:108395453:108395941 | 108394845:108395002 | ENSG00000081087.10 | ENST00000467960.1 |
| 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 OSTM1 |
| 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 |
| ENST00000193322 | 108370456 | 108370622 | Frame-shift |
| ENST00000193322 | 108375693 | 108375791 | Frame-shift |
| ENST00000193322 | 108372234 | 108372402 | 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 |
| ENST00000193322 | 108370456 | 108370622 | Frame-shift |
| ENST00000193322 | 108375693 | 108375791 | Frame-shift |
| ENST00000193322 | 108372234 | 108372402 | In-frame |
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Infer the effects of exon skipping event on protein functional features for OSTM1 |
| 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 |
| ENST00000193322 | 4484 | 334 | 108372234 | 108372402 | 702 | 869 | 205 | 261 |
| 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 |
| ENST00000193322 | 4484 | 334 | 108372234 | 108372402 | 702 | 869 | 205 | 261 |
| 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 |
| Q86WC4 | 205 | 261 | 32 | 334 | Chain | ID=PRO_0000021963;Note=Osteopetrosis-associated transmembrane protein 1 |
| Q86WC4 | 205 | 261 | 216 | 216 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86WC4 | 205 | 261 | 32 | 284 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q86WC4 | 205 | 261 | 32 | 334 | Chain | ID=PRO_0000021963;Note=Osteopetrosis-associated transmembrane protein 1 |
| Q86WC4 | 205 | 261 | 216 | 216 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86WC4 | 205 | 261 | 32 | 284 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for OSTM1 |
| - 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-A3A0-01 | exon_skip_461525 | 108370457 | 108370622 | 108370588 | 108370588 | Frame_Shift_Del | A | - | p.F273fs |
| COAD | TCGA-AD-6889-01 | exon_skip_461529 | 108372235 | 108372402 | 108372297 | 108372297 | Frame_Shift_Del | T | - | p.M241fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_461529 | 108372235 | 108372402 | 108372297 | 108372297 | Frame_Shift_Del | T | - | p.M241fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_461529 | 108372235 | 108372402 | 108372297 | 108372297 | Frame_Shift_Del | T | - | p.M241fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_461529 | 108372235 | 108372402 | 108372296 | 108372297 | Frame_Shift_Ins | - | T | p.M241fs |
| COAD | TCGA-CM-6171-01 | exon_skip_461529 | 108372235 | 108372402 | 108372296 | 108372297 | Frame_Shift_Ins | - | T | p.M241fs |
| COAD | TCGA-AA-3511-01 | exon_skip_461525 | 108370457 | 108370622 | 108370486 | 108370486 | Nonsense_Mutation | G | C | p.S307X |
| BLCA | TCGA-ZF-AA51-01 | exon_skip_461529 | 108372235 | 108372402 | 108372309 | 108372309 | Nonsense_Mutation | C | A | p.E237* |
| - 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 |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 108370457 | 108370622 | 108370471 | 108370471 | Missense_Mutation | C | T | p.R312H |
| KYSE270_OESOPHAGUS | 108370457 | 108370622 | 108370540 | 108370540 | Missense_Mutation | G | A | p.S289F |
| NCIH2135_LUNG | 108370457 | 108370622 | 108370559 | 108370559 | Missense_Mutation | C | A | p.V283L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OSTM1 |
| 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 OSTM1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OSTM1 |
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RelatedDrugs for OSTM1 |
| 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 OSTM1 |
| 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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