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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 CLEC17A |
Gene summary |
| Gene information | Gene symbol | CLEC17A | Gene ID | 388512 |
| Gene name | C-type lectin domain containing 17A | |
| Synonyms | - | |
| Cytomap | 19p13.12 | |
| Type of gene | protein-coding | |
| Description | C-type lectin domain family 17, member AC-type lectin domain family 17 member Aprolectin | |
| Modification date | 20180519 | |
| UniProtAcc | Q6ZS10 | |
| Context | PubMed: CLEC17A [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 CLEC17A 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 CLEC17A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CLEC17A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303044 | 19 | 14705328:14705361:14705443:14705494:14705570:14705612 | 14705443:14705494 | ENSG00000187912.7 | ENST00000397439.2,ENST00000547437.1,ENST00000339847.5,ENST00000551730.1,ENST00000417570.1 |
| exon_skip_303046 | 19 | 14710528:14710624:14710842:14710994:14717804:14717914 | 14710842:14710994 | ENSG00000187912.7 | ENST00000551730.1,ENST00000417570.1 |
| exon_skip_303047 | 19 | 14710842:14710994:14717804:14717914:14720875:14721232 | 14717804:14717914 | ENSG00000187912.7 | ENST00000551730.1,ENST00000417570.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CLEC17A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303044 | 19 | 14705328:14705361:14705443:14705494:14705570:14705612 | 14705443:14705494 | ENSG00000187912.7 | ENST00000547437.1,ENST00000397439.2,ENST00000417570.1,ENST00000339847.5,ENST00000551730.1 |
| exon_skip_303046 | 19 | 14710528:14710624:14710842:14710994:14717804:14717914 | 14710842:14710994 | ENSG00000187912.7 | ENST00000417570.1,ENST00000551730.1 |
| exon_skip_303047 | 19 | 14710842:14710994:14717804:14717914:14720875:14721232 | 14717804:14717914 | ENSG00000187912.7 | ENST00000417570.1,ENST00000551730.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CLEC17A |
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 |
| ENST00000417570 | 14710842 | 14710994 | Frame-shift |
| ENST00000417570 | 14717804 | 14717914 | Frame-shift |
| ENST00000417570 | 14705443 | 14705494 | 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 |
| ENST00000417570 | 14710842 | 14710994 | Frame-shift |
| ENST00000417570 | 14717804 | 14717914 | Frame-shift |
| ENST00000417570 | 14705443 | 14705494 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CLEC17A |
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 |
| ENST00000417570 | 1416 | 378 | 14705443 | 14705494 | 349 | 399 | 103 | 120 |
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 |
| ENST00000417570 | 1416 | 378 | 14705443 | 14705494 | 349 | 399 | 103 | 120 |
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 |
| Q6ZS10 | 103 | 120 | 1 | 378 | Chain | ID=PRO_0000319428;Note=C-type lectin domain family 17%2C member A |
| Q6ZS10 | 103 | 120 | 1 | 172 | Topological domain | Note=Cytoplasmic;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 |
| Q6ZS10 | 103 | 120 | 1 | 378 | Chain | ID=PRO_0000319428;Note=C-type lectin domain family 17%2C member A |
| Q6ZS10 | 103 | 120 | 1 | 172 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CLEC17A |
- 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 |
| UCS | TCGA-ND-A4WC-01 | exon_skip_303044 | 14705444 | 14705494 | 14705455 | 14705455 | Nonsense_Mutation | G | T | p.E108* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_303044 | 14705444 | 14705494 | 14705455 | 14705455 | Nonsense_Mutation | G | T | p.E108X |
- 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 |
| JHUEM7_ENDOMETRIUM | 14705444 | 14705494 | 14705459 | 14705459 | Missense_Mutation | A | C | p.K109T |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14710843 | 14710994 | 14710860 | 14710860 | Missense_Mutation | T | C | p.C254R |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14710843 | 14710994 | 14710861 | 14710861 | Missense_Mutation | G | A | p.C254Y |
| HEC1A_ENDOMETRIUM | 14710843 | 14710994 | 14710888 | 14710888 | Missense_Mutation | G | A | p.G263D |
| HEC1_ENDOMETRIUM | 14710843 | 14710994 | 14710888 | 14710888 | Missense_Mutation | G | A | p.G263D |
| 59M_OVARY | 14717805 | 14717914 | 14717862 | 14717862 | Missense_Mutation | A | G | p.R318G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CLEC17A |
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 CLEC17A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLEC17A |
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RelatedDrugs for CLEC17A |
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 CLEC17A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |