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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 CHRD |
Gene summary |
| Gene information | Gene symbol | CHRD | Gene ID | 8646 |
| Gene name | chordin | |
| Synonyms | - | |
| Cytomap | 3q27.1 | |
| Type of gene | protein-coding | |
| Description | chordin | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H2X0 | |
| Context | PubMed: CHRD [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 |
| CHRD | GO:0030336 | negative regulation of cell migration | 16449796 |
| CHRD | GO:0045785 | positive regulation of cell adhesion | 16449796 |
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Exon skipping events across known transcript of Ensembl for CHRD 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 CHRD |
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 CHRD |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379915 | 3 | 184098479:184098583:184098863:184098918:184099022:184099152 | 184098863:184098918 | ENSG00000090539.11 | ENST00000448472.1 |
| exon_skip_379916 | 3 | 184098479:184098583:184098867:184098918:184099022:184099152 | 184098867:184098918 | ENSG00000090539.11 | ENST00000356534.3 |
| exon_skip_379917 | 3 | 184101099:184101206:184101310:184101430:184102324:184102481 | 184101310:184101430 | ENSG00000090539.11 | ENST00000470150.1,ENST00000204604.1,ENST00000460627.1,ENST00000448472.1,ENST00000450923.1,ENST00000545352.1,ENST00000420973.1 |
| exon_skip_379918 | 3 | 184103833:184103947:184104279:184104543:184104632:184104726 | 184104279:184104543 | ENSG00000090539.11 | ENST00000470150.1,ENST00000204604.1,ENST00000448472.1,ENST00000450923.1,ENST00000420973.1,ENST00000348986.3 |
| exon_skip_379919 | 3 | 184104838:184104895:184105161:184105265:184105718:184105821 | 184105161:184105265 | ENSG00000090539.11 | ENST00000204604.1,ENST00000460627.1,ENST00000448472.1,ENST00000450923.1,ENST00000545352.1,ENST00000420973.1,ENST00000348986.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHRD |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379915 | 3 | 184098479:184098583:184098863:184098918:184099022:184099152 | 184098863:184098918 | ENSG00000090539.11 | ENST00000448472.1 |
| exon_skip_379916 | 3 | 184098479:184098583:184098867:184098918:184099022:184099152 | 184098867:184098918 | ENSG00000090539.11 | ENST00000356534.3 |
| exon_skip_379917 | 3 | 184101099:184101206:184101310:184101430:184102324:184102481 | 184101310:184101430 | ENSG00000090539.11 | ENST00000204604.1,ENST00000448472.1,ENST00000420973.1,ENST00000460627.1,ENST00000450923.1,ENST00000470150.1,ENST00000545352.1 |
| exon_skip_379918 | 3 | 184103833:184103947:184104279:184104543:184104632:184104726 | 184104279:184104543 | ENSG00000090539.11 | ENST00000204604.1,ENST00000448472.1,ENST00000420973.1,ENST00000450923.1,ENST00000348986.3,ENST00000470150.1 |
| exon_skip_379919 | 3 | 184104838:184104895:184105161:184105265:184105718:184105821 | 184105161:184105265 | ENSG00000090539.11 | ENST00000204604.1,ENST00000448472.1,ENST00000420973.1,ENST00000460627.1,ENST00000450923.1,ENST00000348986.3,ENST00000545352.1 |
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 CHRD |
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 |
| ENST00000204604 | 184105161 | 184105265 | Frame-shift |
| ENST00000204604 | 184101310 | 184101430 | In-frame |
| ENST00000204604 | 184104279 | 184104543 | 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 |
| ENST00000204604 | 184105161 | 184105265 | Frame-shift |
| ENST00000204604 | 184101310 | 184101430 | In-frame |
| ENST00000204604 | 184104279 | 184104543 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHRD |
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 |
| ENST00000204604 | 3538 | 955 | 184101310 | 184101430 | 1567 | 1686 | 440 | 480 |
| ENST00000204604 | 3538 | 955 | 184104279 | 184104543 | 2179 | 2442 | 644 | 732 |
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 |
| ENST00000204604 | 3538 | 955 | 184101310 | 184101430 | 1567 | 1686 | 440 | 480 |
| ENST00000204604 | 3538 | 955 | 184104279 | 184104543 | 2179 | 2442 | 644 | 732 |
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 |
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 |
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SNVs in the skipped exons for CHRD |
- 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_379918 | 184104280 | 184104543 | 184104490 | 184104490 | Frame_Shift_Del | G | - | p.G715fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_379919 | 184105162 | 184105265 | 184105213 | 184105214 | Frame_Shift_Ins | - | C | p.H800fs |
| COAD | TCGA-CM-4743-01 | exon_skip_379919 | 184105162 | 184105265 | 184105223 | 184105224 | Frame_Shift_Ins | - | C | p.V803fs |
| STAD | TCGA-BR-8360-01 | exon_skip_379917 | 184101311 | 184101430 | 184101309 | 184101309 | Splice_Site | A | G | . |
| STAD | TCGA-BR-8360-01 | exon_skip_379917 | 184101311 | 184101430 | 184101309 | 184101309 | Splice_Site | A | G | p.V441_splice |
| HNSC | TCGA-BA-5151-01 | exon_skip_379917 | 184101311 | 184101430 | 184101432 | 184101432 | Splice_Site | T | C | p.T480_splice |
- 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 |
| SNU324_PANCREAS | 184101311 | 184101430 | 184101327 | 184101327 | Frame_Shift_Del | C | - | p.T446fs |
| CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184101311 | 184101430 | 184101334 | 184101334 | Missense_Mutation | T | G | p.S448R |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 184104280 | 184104543 | 184104290 | 184104290 | Missense_Mutation | C | T | p.A648V |
| HCT15_LARGE_INTESTINE | 184104280 | 184104543 | 184104346 | 184104346 | Missense_Mutation | C | T | p.R667W |
| HUH6_LIVER | 184104280 | 184104543 | 184104374 | 184104374 | Missense_Mutation | C | T | p.S676F |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184104280 | 184104543 | 184104404 | 184104404 | Missense_Mutation | C | T | p.P686L |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184104280 | 184104543 | 184104412 | 184104412 | Missense_Mutation | G | T | p.A689S |
| P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184104280 | 184104543 | 184104452 | 184104452 | Missense_Mutation | C | T | p.P702L |
| JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184104280 | 184104543 | 184104452 | 184104452 | Missense_Mutation | C | T | p.P702L |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184104280 | 184104543 | 184104489 | 184104489 | Missense_Mutation | C | A | p.H714Q |
| NCIH720_LUNG | 184104280 | 184104543 | 184104520 | 184104520 | Missense_Mutation | C | T | p.L725F |
| SNU1040_LARGE_INTESTINE | 184104280 | 184104543 | 184104524 | 184104524 | Missense_Mutation | G | A | p.C726Y |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 184105162 | 184105265 | 184105218 | 184105218 | Missense_Mutation | G | A | p.V802I |
| NCIH1573_LUNG | 184105162 | 184105265 | 184105244 | 184105244 | Missense_Mutation | G | T | p.K810N |
| NCIH1155_LUNG | 184105162 | 184105265 | 184105249 | 184105249 | Missense_Mutation | C | T | p.A812V |
| EFM19_BREAST | 184105162 | 184105265 | 184105256 | 184105256 | Nonsense_Mutation | C | A | p.C814* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHRD |
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 CHRD |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHRD |
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RelatedDrugs for CHRD |
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 CHRD |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |