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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 CHORDC1 |
 Gene summary |
| Gene information | Gene symbol | CHORDC1 | Gene ID | 26973 |
| Gene name | cysteine and histidine rich domain containing 1 | |
| Synonyms | CHP1 | |
| Cytomap | 11q14.3 | |
| Type of gene | protein-coding | |
| Description | cysteine and histidine-rich domain-containing protein 1CHORD-containing protein 1CHP-1chord domain-containing protein 1cysteine and histidine-rich domain (CHORD) containing 1cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UHD1 | |
| Context | PubMed: CHORDC1 [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 CHORDC1 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 CHORDC1 |
| 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 CHORDC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_76725 | 11 | 89935574:89935719:89935980:89936043:89936475:89936595 | 89935980:89936043 | ENSG00000110172.7 | ENST00000320585.6,ENST00000525317.1,ENST00000529987.1,ENST00000529726.1,ENST00000457199.2,ENST00000533724.1 |
| exon_skip_76727 | 11 | 89936475:89936595:89938627:89938733:89939369:89939440 | 89938627:89938733 | ENSG00000110172.7 | ENST00000320585.6,ENST00000525317.1,ENST00000529987.1,ENST00000457199.2,ENST00000533724.1 |
| exon_skip_76731 | 11 | 89939369:89939440:89939915:89939978:89943703:89943762 | 89939915:89939978 | ENSG00000110172.7 | ENST00000525317.1 |
| exon_skip_76734 | 11 | 89943703:89943762:89944382:89944486:89947185:89947343 | 89944382:89944486 | ENSG00000110172.7 | ENST00000320585.6,ENST00000525317.1,ENST00000457199.2 |
| exon_skip_76739 | 11 | 89944382:89944486:89947185:89947343:89948341:89948398 | 89947185:89947343 | ENSG00000110172.7 | ENST00000320585.6,ENST00000525317.1 |
| exon_skip_76742 | 11 | 89947185:89947343:89948341:89948398:89951302:89951352 | 89948341:89948398 | ENSG00000110172.7 | ENST00000320585.6,ENST00000525317.1,ENST00000529402.1,ENST00000533772.1,ENST00000530765.1,ENST00000533724.1 |
| exon_skip_76743 | 11 | 89948341:89948398:89949631:89949721:89951302:89951352 | 89949631:89949721 | ENSG00000110172.7 | ENST00000533062.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHORDC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_76725 | 11 | 89935574:89935719:89935980:89936043:89936475:89936595 | 89935980:89936043 | ENSG00000110172.7 | ENST00000320585.6,ENST00000529987.1,ENST00000533724.1,ENST00000457199.2,ENST00000529726.1,ENST00000525317.1 |
| exon_skip_76727 | 11 | 89936475:89936595:89938627:89938733:89939369:89939440 | 89938627:89938733 | ENSG00000110172.7 | ENST00000320585.6,ENST00000529987.1,ENST00000533724.1,ENST00000457199.2,ENST00000525317.1 |
| exon_skip_76731 | 11 | 89939369:89939440:89939915:89939978:89943703:89943762 | 89939915:89939978 | ENSG00000110172.7 | ENST00000525317.1 |
| exon_skip_76734 | 11 | 89943703:89943762:89944382:89944486:89947185:89947343 | 89944382:89944486 | ENSG00000110172.7 | ENST00000320585.6,ENST00000457199.2,ENST00000525317.1 |
| exon_skip_76739 | 11 | 89944382:89944486:89947185:89947343:89948341:89948398 | 89947185:89947343 | ENSG00000110172.7 | ENST00000320585.6,ENST00000525317.1 |
| exon_skip_76742 | 11 | 89947185:89947343:89948341:89948398:89951302:89951352 | 89948341:89948398 | ENSG00000110172.7 | ENST00000320585.6,ENST00000533724.1,ENST00000525317.1,ENST00000533772.1,ENST00000530765.1,ENST00000529402.1 |
| exon_skip_76743 | 11 | 89948341:89948398:89949631:89949721:89951302:89951352 | 89949631:89949721 | ENSG00000110172.7 | ENST00000533062.1 |
| 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 CHORDC1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CHORDC1 |
| 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 |
| 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 |
| 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 CHORDC1 |
| - 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. |
CHORDC1_COAD_exon_skip_76742_psi_boxplot.png |
| - 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 |
| BRCA | TCGA-E2-A109-01 | exon_skip_76727 | 89938628 | 89938733 | 89938668 | 89938668 | Frame_Shift_Del | C | - | p.G210fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_76734 | 89944383 | 89944486 | 89944452 | 89944452 | Frame_Shift_Del | T | - | p.I122fs |
| UCEC | TCGA-D1-A103-01 | exon_skip_76727 | 89938628 | 89938733 | 89938724 | 89938724 | Nonsense_Mutation | G | T | p.Y191* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_76734 | 89944383 | 89944486 | 89944398 | 89944398 | Nonsense_Mutation | C | A | p.E140* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_76734 | 89944383 | 89944486 | 89944398 | 89944398 | Nonsense_Mutation | C | A | p.E140X |
| STAD | TCGA-CG-5721-01 | exon_skip_76739 | 89947186 | 89947343 | 89947184 | 89947184 | Splice_Site | A | G | . |
| STAD | TCGA-CG-5721-01 | exon_skip_76739 | 89947186 | 89947343 | 89947184 | 89947184 | Splice_Site | A | G | p.S110_splice |
| COAD | TCGA-G4-6588-01 | exon_skip_76742 | 89948342 | 89948398 | 89948399 | 89948399 | Splice_Site | C | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G4-6588-01 |
| Cancer type: COAD | |
| ESID: exon_skip_76742 | |
| Skipped exon start: 89948342 | |
| Skipped exon end: 89948398 | |
| Mutation start: 89948399 | |
| Mutation end: 89948399 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_135806_COAD_TCGA-G4-6588-01.png | |
exon_skip_136696_COAD_TCGA-G4-6588-01.png | |
exon_skip_313058_COAD_TCGA-G4-6588-01.png | |
exon_skip_322889_COAD_TCGA-G4-6588-01.png | |
exon_skip_322890_COAD_TCGA-G4-6588-01.png | |
exon_skip_330818_COAD_TCGA-G4-6588-01.png | |
exon_skip_382354_COAD_TCGA-G4-6588-01.png | |
exon_skip_386802_COAD_TCGA-G4-6588-01.png | |
exon_skip_4028_COAD_TCGA-G4-6588-01.png | |
exon_skip_434039_COAD_TCGA-G4-6588-01.png | |
exon_skip_434040_COAD_TCGA-G4-6588-01.png | |
exon_skip_5121_COAD_TCGA-G4-6588-01.png | |
exon_skip_5861_COAD_TCGA-G4-6588-01.png | |
exon_skip_68768_COAD_TCGA-G4-6588-01.png | |
exon_skip_76742_COAD_TCGA-G4-6588-01.png | |
| - 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 | 89938628 | 89938733 | 89938648 | 89938649 | Frame_Shift_Del | TG | - | p.M217fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 89938628 | 89938733 | 89938644 | 89938645 | Frame_Shift_Ins | - | AT | p.W218fs |
| SKOV3_OVARY | 89938628 | 89938733 | 89938668 | 89938668 | Missense_Mutation | C | T | p.G210D |
| HEC251_ENDOMETRIUM | 89944383 | 89944486 | 89944421 | 89944421 | Missense_Mutation | T | G | p.K132T |
| DU145_PROSTATE | 89944383 | 89944486 | 89944440 | 89944440 | Missense_Mutation | G | T | p.L126I |
| JHUEM2_ENDOMETRIUM | 89944383 | 89944486 | 89944472 | 89944472 | Missense_Mutation | A | G | p.M115T |
| BT12_SOFT_TISSUE | 89944383 | 89944486 | 89944473 | 89944473 | Missense_Mutation | T | C | p.M115V |
| NH12_AUTONOMIC_GANGLIA | 89947186 | 89947343 | 89947231 | 89947231 | Missense_Mutation | T | C | p.H95R |
| SNU1040_LARGE_INTESTINE | 89948342 | 89948398 | 89948352 | 89948352 | Missense_Mutation | A | G | p.L54S |
| HEC251_ENDOMETRIUM | 89948342 | 89948398 | 89948379 | 89948379 | Missense_Mutation | C | T | p.R45K |
| HCT15_LARGE_INTESTINE | 89944383 | 89944486 | 89944398 | 89944398 | Nonsense_Mutation | C | A | p.E140* |
| SKOV3_OVARY | 89947186 | 89947343 | 89947214 | 89947214 | Nonsense_Mutation | T | A | p.K101* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHORDC1 |
| 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 CHORDC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHORDC1 |
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RelatedDrugs for CHORDC1 |
| 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 CHORDC1 |
| 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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