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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 GHDC |
 Gene summary |
| Gene information | Gene symbol | GHDC | Gene ID | 84514 |
| Gene name | GH3 domain containing | |
| Synonyms | D11LGP1|LGP1 | |
| Cytomap | 17q21.2 | |
| Type of gene | protein-coding | |
| Description | GH3 domain-containing proteinhomolog of mouse LGP1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N2G8 | |
| Context | PubMed: GHDC [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 GHDC 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 GHDC |
| 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 GHDC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_289900 | 17 | 40340816:40341105:40342202:40342288:40342641:40342775 | 40342202:40342288 | ENSG00000167925.11 | ENST00000593209.1 |
| exon_skip_289903 | 17 | 40341107:40341939:40342202:40342288:40342641:40342775 | 40342202:40342288 | ENSG00000167925.11 | ENST00000587427.1,ENST00000301671.8,ENST00000428494.2 |
| exon_skip_289905 | 17 | 40341107:40341939:40342202:40342377:40342641:40342775 | 40342202:40342377 | ENSG00000167925.11 | ENST00000414034.3 |
| exon_skip_289906 | 17 | 40342202:40342288:40342641:40342775:40342849:40342921 | 40342641:40342775 | ENSG00000167925.11 | ENST00000587427.1,ENST00000593209.1,ENST00000301671.8,ENST00000428494.2 |
| exon_skip_289908 | 17 | 40343035:40343228:40344258:40344760:40344923:40345045 | 40344258:40344760 | ENSG00000167925.11 | ENST00000587427.1,ENST00000593209.1,ENST00000414034.3,ENST00000301671.8,ENST00000436923.2 |
| exon_skip_289915 | 17 | 40345334:40345612:40345784:40345868:40346410:40346477 | 40345784:40345868 | ENSG00000167925.11 | ENST00000587427.1,ENST00000414034.3,ENST00000585375.1,ENST00000586692.1,ENST00000588762.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GHDC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_289900 | 17 | 40340816:40341105:40342202:40342288:40342641:40342775 | 40342202:40342288 | ENSG00000167925.11 | ENST00000593209.1 |
| exon_skip_289903 | 17 | 40341107:40341939:40342202:40342288:40342641:40342775 | 40342202:40342288 | ENSG00000167925.11 | ENST00000301671.8,ENST00000587427.1,ENST00000428494.2 |
| exon_skip_289905 | 17 | 40341107:40341939:40342202:40342377:40342641:40342775 | 40342202:40342377 | ENSG00000167925.11 | ENST00000414034.3 |
| exon_skip_289906 | 17 | 40342202:40342288:40342641:40342775:40342849:40342921 | 40342641:40342775 | ENSG00000167925.11 | ENST00000593209.1,ENST00000301671.8,ENST00000587427.1,ENST00000428494.2 |
| exon_skip_289908 | 17 | 40343035:40343228:40344258:40344760:40344923:40345045 | 40344258:40344760 | ENSG00000167925.11 | ENST00000593209.1,ENST00000301671.8,ENST00000414034.3,ENST00000587427.1,ENST00000436923.2 |
| exon_skip_289915 | 17 | 40345334:40345612:40345784:40345868:40346410:40346477 | 40345784:40345868 | ENSG00000167925.11 | ENST00000414034.3,ENST00000587427.1,ENST00000588762.1,ENST00000586692.1,ENST00000585375.1 |
| 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 GHDC |
| 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 |
| ENST00000587427 | 40345784 | 40345868 | 3UTR-3UTR |
| ENST00000301671 | 40342202 | 40342288 | Frame-shift |
| ENST00000587427 | 40342202 | 40342288 | Frame-shift |
| ENST00000301671 | 40342641 | 40342775 | Frame-shift |
| ENST00000587427 | 40342641 | 40342775 | Frame-shift |
| ENST00000301671 | 40344258 | 40344760 | Frame-shift |
| ENST00000587427 | 40344258 | 40344760 | Frame-shift |
| 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 |
| ENST00000587427 | 40345784 | 40345868 | 3UTR-3UTR |
| ENST00000301671 | 40342202 | 40342288 | Frame-shift |
| ENST00000587427 | 40342202 | 40342288 | Frame-shift |
| ENST00000301671 | 40342641 | 40342775 | Frame-shift |
| ENST00000587427 | 40342641 | 40342775 | Frame-shift |
| ENST00000301671 | 40344258 | 40344760 | Frame-shift |
| ENST00000587427 | 40344258 | 40344760 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GHDC |
| 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 GHDC |
| - 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_289900 exon_skip_289903 | 40342203 | 40342288 | 40342236 | 40342236 | Frame_Shift_Del | C | - | p.G447fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_289905 | 40342203 | 40342377 | 40342236 | 40342236 | Frame_Shift_Del | C | - | p.G447fs |
| HNSC | TCGA-CV-A45W-01 | exon_skip_289900 exon_skip_289903 | 40342203 | 40342288 | 40342251 | 40342251 | Frame_Shift_Del | A | - | p.F442fs |
| HNSC | TCGA-CV-A45W-01 | exon_skip_289905 | 40342203 | 40342377 | 40342251 | 40342251 | Frame_Shift_Del | A | - | p.F442fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_289905 | 40342203 | 40342377 | 40342329 | 40342329 | Frame_Shift_Del | G | - | p.P446fs |
| BLCA | TCGA-CF-A1HS-01 | exon_skip_289906 | 40342642 | 40342775 | 40342704 | 40342704 | Frame_Shift_Del | G | - | p.A409fs |
| KIRP | TCGA-HE-A5NK-01 | exon_skip_289908 | 40344259 | 40344760 | 40344519 | 40344519 | Frame_Shift_Del | A | - | p.F210fs |
| KIRP | TCGA-B9-4117-01 | exon_skip_289908 | 40344259 | 40344760 | 40344321 | 40344322 | Frame_Shift_Ins | - | C | p.A276fs |
| CESC | TCGA-EA-A3HU-01 | exon_skip_289906 | 40342642 | 40342775 | 40342753 | 40342753 | Nonsense_Mutation | G | A | p.R393* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_289906 | 40342642 | 40342775 | 40342753 | 40342753 | Nonsense_Mutation | G | A | p.R393* |
| CHOL | TCGA-W5-AA2G-01 | exon_skip_289908 | 40344259 | 40344760 | 40344493 | 40344493 | Nonsense_Mutation | C | A | p.E219* |
| CHOL | TCGA-W5-AA2G-01 | exon_skip_289908 | 40344259 | 40344760 | 40344493 | 40344493 | Nonsense_Mutation | C | A | p.E219X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_289905 | |
| Skipped exon start: 40342203 | |
| Skipped exon end: 40342377 | |
| Mutation start: 40342329 | |
| Mutation end: 40342329 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P446fs | |
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| - 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 |
| RCCMF_KIDNEY | 40342642 | 40342775 | 40342712 | 40342719 | Frame_Shift_Del | CAGGGCCT | - | p.EAL404fs |
| SNUC5_LARGE_INTESTINE | 40344259 | 40344760 | 40344354 | 40344355 | Frame_Shift_Del | AG | - | p.L265fs |
| CL34_LARGE_INTESTINE | 40344259 | 40344760 | 40344424 | 40344424 | Frame_Shift_Del | C | - | p.E242fs |
| GCT_SOFT_TISSUE | 40342203 | 40342377 | 40342210 | 40342210 | Missense_Mutation | C | A | p.R456L |
| GCT_SOFT_TISSUE | 40342203 | 40342288 | 40342210 | 40342210 | Missense_Mutation | C | A | p.R456L |
| KYSE410_OESOPHAGUS | 40342203 | 40342377 | 40342238 | 40342238 | Missense_Mutation | C | G | p.G447R |
| KYSE410_OESOPHAGUS | 40342203 | 40342288 | 40342238 | 40342238 | Missense_Mutation | C | G | p.G447R |
| VMCUB1_URINARY_TRACT | 40342203 | 40342377 | 40342285 | 40342285 | Missense_Mutation | G | A | p.S431F |
| VMCUB1_URINARY_TRACT | 40342203 | 40342288 | 40342285 | 40342285 | Missense_Mutation | G | A | p.S431F |
| NB17_AUTONOMIC_GANGLIA | 40342642 | 40342775 | 40342665 | 40342665 | Missense_Mutation | C | A | p.G422V |
| HKA1_SKIN | 40344259 | 40344760 | 40344345 | 40344345 | Missense_Mutation | C | T | p.G268E |
| HMCB_SKIN | 40344259 | 40344760 | 40344429 | 40344429 | Missense_Mutation | A | T | p.L240H |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 40344259 | 40344760 | 40344447 | 40344447 | Missense_Mutation | C | T | p.R234H |
| ECC12_STOMACH | 40344259 | 40344760 | 40344448 | 40344448 | Missense_Mutation | G | A | p.R234C |
| TE1_OESOPHAGUS | 40344259 | 40344760 | 40344528 | 40344528 | Missense_Mutation | A | G | p.L207P |
| NCIH1869_LUNG | 40344259 | 40344760 | 40344650 | 40344650 | Missense_Mutation | C | A | p.W166C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GHDC |
| 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 GHDC |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GHDC |
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RelatedDrugs for GHDC |
| 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 GHDC |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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