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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 UCMA |
 Gene summary |
| Gene information | Gene symbol | UCMA | Gene ID | 221044 |
| Gene name | upper zone of growth plate and cartilage matrix associated | |
| Synonyms | C10orf49|GRP|GRP/UCMA | |
| Cytomap | 10p13 | |
| Type of gene | protein-coding | |
| Description | unique cartilage matrix-associated proteinGla-rich protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q8WVF2 | |
| Context | PubMed: UCMA [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 UCMA 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 UCMA |
| 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 UCMA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_47735 | 10 | 13271610:13271709:13275537:13275633:13275734:13275800 | 13275537:13275633 | ENSG00000165623.5 | ENST00000378681.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UCMA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_47735 | 10 | 13271610:13271709:13275537:13275633:13275734:13275800 | 13275537:13275633 | ENSG00000165623.5 | ENST00000378681.3 |
| 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 UCMA |
| 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 |
| ENST00000378681 | 13275537 | 13275633 | 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 |
| ENST00000378681 | 13275537 | 13275633 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UCMA |
| 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 |
| ENST00000378681 | 843 | 138 | 13275537 | 13275633 | 198 | 293 | 41 | 73 |
| 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 |
| ENST00000378681 | 843 | 138 | 13275537 | 13275633 | 198 | 293 | 41 | 73 |
| 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 |
| Q8WVF2 | 41 | 73 | 27 | 138 | Chain | ID=PRO_0000019549;Note=Unique cartilage matrix-associated protein |
| Q8WVF2 | 41 | 73 | 65 | 138 | Chain | ID=PRO_0000347064;Note=Unique cartilage matrix-associated protein C-terminal fragment |
| Q8WVF2 | 41 | 73 | 28 | 64 | Propeptide | ID=PRO_0000347063;Note=Ucma-N |
| 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 |
| Q8WVF2 | 41 | 73 | 27 | 138 | Chain | ID=PRO_0000019549;Note=Unique cartilage matrix-associated protein |
| Q8WVF2 | 41 | 73 | 65 | 138 | Chain | ID=PRO_0000347064;Note=Unique cartilage matrix-associated protein C-terminal fragment |
| Q8WVF2 | 41 | 73 | 28 | 64 | Propeptide | ID=PRO_0000347063;Note=Ucma-N |
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SNVs in the skipped exons for UCMA |
| - 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 |
| - 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 |
| SKUT1_SOFT_TISSUE | 13275538 | 13275633 | 13275565 | 13275565 | Missense_Mutation | A | G | p.S65P |
| SNU1040_LARGE_INTESTINE | 13275538 | 13275633 | 13275577 | 13275577 | Missense_Mutation | G | A | p.R61C |
| SNU81_LARGE_INTESTINE | 13275538 | 13275633 | 13275628 | 13275628 | Missense_Mutation | T | G | p.K44Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UCMA |
| 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 UCMA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UCMA |
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RelatedDrugs for UCMA |
| 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 UCMA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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