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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 C8orf34 |
 Gene summary |
| Gene information | Gene symbol | C8orf34 | Gene ID | 116328 |
| Gene name | chromosome 8 open reading frame 34 | |
| Synonyms | VEST-1|VEST1 | |
| Cytomap | 8q13.2 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein C8orf34protein VEST-1vestibule-1 protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q49A92 | |
| Context | PubMed: C8orf34 [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 C8orf34 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 C8orf34 |
| 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 C8orf34 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_483920 | 8 | 69358563:69358695:69380926:69381055:69400257:69400286 | 69380926:69381055 | ENSG00000165084.11 | ENST00000521406.1,ENST00000539993.1,ENST00000348340.2,ENST00000518698.1,ENST00000337103.4 |
| exon_skip_483921 | 8 | 69380926:69381055:69400257:69400286:69434033:69434174 | 69400257:69400286 | ENSG00000165084.11 | ENST00000521406.1,ENST00000539993.1,ENST00000348340.2,ENST00000518698.1,ENST00000337103.4 |
| exon_skip_483922 | 8 | 69434033:69434206:69442827:69442914:69445217:69445384 | 69442827:69442914 | ENSG00000165084.11 | ENST00000521406.1 |
| exon_skip_483925 | 8 | 69445254:69445384:69552610:69552746:69621228:69621314 | 69552610:69552746 | ENSG00000165084.11 | ENST00000521406.1,ENST00000539993.1,ENST00000518698.1,ENST00000337103.4 |
| exon_skip_483928 | 8 | 69537693:69537890:69552610:69552746:69621228:69621314 | 69552610:69552746 | ENSG00000165084.11 | ENST00000325233.3 |
| exon_skip_483932 | 8 | 69621228:69621314:69633595:69633672:69688633:69688684 | 69633595:69633672 | ENSG00000165084.11 | ENST00000521406.1,ENST00000325233.3,ENST00000539993.1,ENST00000518698.1,ENST00000337103.4 |
| exon_skip_483933 | 8 | 69621228:69621314:69633595:69633672:69699677:69699771 | 69633595:69633672 | ENSG00000165084.11 | ENST00000518515.1 |
| exon_skip_483935 | 8 | 69633595:69633672:69688633:69688684:69699677:69699771 | 69688633:69688684 | ENSG00000165084.11 | ENST00000521406.1,ENST00000325233.3,ENST00000539993.1,ENST00000518698.1,ENST00000337103.4 |
| exon_skip_483938 | 8 | 69699677:69699771:69728120:69728180:69730473:69730509 | 69728120:69728180 | ENSG00000165084.11 | ENST00000521406.1,ENST00000539993.1,ENST00000518698.1,ENST00000337103.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C8orf34 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_483920 | 8 | 69358563:69358695:69380926:69381055:69400257:69400286 | 69380926:69381055 | ENSG00000165084.11 | ENST00000518698.1,ENST00000539993.1,ENST00000348340.2,ENST00000337103.4,ENST00000521406.1 |
| exon_skip_483921 | 8 | 69380926:69381055:69400257:69400286:69434033:69434174 | 69400257:69400286 | ENSG00000165084.11 | ENST00000518698.1,ENST00000539993.1,ENST00000348340.2,ENST00000337103.4,ENST00000521406.1 |
| exon_skip_483922 | 8 | 69434033:69434206:69442827:69442914:69445217:69445384 | 69442827:69442914 | ENSG00000165084.11 | ENST00000521406.1 |
| exon_skip_483925 | 8 | 69445254:69445384:69552610:69552746:69621228:69621314 | 69552610:69552746 | ENSG00000165084.11 | ENST00000518698.1,ENST00000539993.1,ENST00000337103.4,ENST00000521406.1 |
| exon_skip_483928 | 8 | 69537693:69537890:69552610:69552746:69621228:69621314 | 69552610:69552746 | ENSG00000165084.11 | ENST00000325233.3 |
| exon_skip_483932 | 8 | 69621228:69621314:69633595:69633672:69688633:69688684 | 69633595:69633672 | ENSG00000165084.11 | ENST00000518698.1,ENST00000539993.1,ENST00000337103.4,ENST00000521406.1,ENST00000325233.3 |
| exon_skip_483933 | 8 | 69621228:69621314:69633595:69633672:69699677:69699771 | 69633595:69633672 | ENSG00000165084.11 | ENST00000518515.1 |
| exon_skip_483935 | 8 | 69633595:69633672:69688633:69688684:69699677:69699771 | 69688633:69688684 | ENSG00000165084.11 | ENST00000518698.1,ENST00000539993.1,ENST00000337103.4,ENST00000521406.1,ENST00000325233.3 |
| exon_skip_483938 | 8 | 69699677:69699771:69728120:69728180:69730473:69730509 | 69728120:69728180 | ENSG00000165084.11 | ENST00000518698.1,ENST00000539993.1,ENST00000337103.4,ENST00000521406.1 |
| 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 C8orf34 |
| 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 C8orf34 |
| 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 C8orf34 |
| - 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 |
| STAD | TCGA-HF-7132-01 | exon_skip_483932 exon_skip_483933 | 69633596 | 69633672 | 69633596 | 69633597 | Frame_Shift_Ins | - | T | p.D443fs |
| SKCM | TCGA-EB-A3XF-01 | exon_skip_483920 | 69380927 | 69381055 | 69380954 | 69380954 | Nonsense_Mutation | G | A | p.W101* |
| GBM | TCGA-06-0745-01 | exon_skip_483920 | 69380927 | 69381055 | 69381052 | 69381052 | Nonsense_Mutation | C | T | p.R245* |
| HNSC | TCGA-QK-A8ZA-01 | exon_skip_483925 exon_skip_483928 | 69552611 | 69552746 | 69552706 | 69552706 | Nonsense_Mutation | C | T | p.Q290* |
| LUSC | TCGA-18-3419-01 | exon_skip_483935 | 69688634 | 69688684 | 69688634 | 69688634 | Nonsense_Mutation | G | T | p.G469_splice |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_483935 | 69688634 | 69688684 | 69688649 | 69688649 | Nonsense_Mutation | G | T | p.G363* |
| LUSC | TCGA-22-5492-01 | exon_skip_483925 exon_skip_483928 | 69552611 | 69552746 | 69552748 | 69552748 | Splice_Site | T | A | p.R414_splice |
| LUSC | TCGA-63-5128-01 | exon_skip_483938 | 69728121 | 69728180 | 69728119 | 69728119 | Splice_Site | A | G | p.R517_splice |
| SKCM | TCGA-EE-A20C-06 | exon_skip_483938 | 69728121 | 69728180 | 69728120 | 69728120 | Splice_Site | G | A | . |
| - 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 |
| NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69380927 | 69381055 | 69380999 | 69380999 | Missense_Mutation | A | C | p.N141T |
| HCC1806_BREAST | 69380927 | 69381055 | 69381050 | 69381050 | Missense_Mutation | C | A | p.S158Y |
| NCIH847_LUNG | 69400258 | 69400286 | 69400263 | 69400263 | Missense_Mutation | G | A | p.A162T |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69400258 | 69400286 | 69400278 | 69400278 | Missense_Mutation | C | T | p.L167F |
| SNU878_LIVER | 69400258 | 69400286 | 69400278 | 69400278 | Missense_Mutation | C | T | p.L167F |
| SNU16_STOMACH | 69400258 | 69400286 | 69400278 | 69400278 | Missense_Mutation | C | T | p.L167F |
| MFM223_BREAST | 69400258 | 69400286 | 69400278 | 69400278 | Missense_Mutation | C | G | p.L167V |
| WM88_SKIN | 69552611 | 69552746 | 69552613 | 69552613 | Missense_Mutation | G | A | p.D284N |
| TOV21G_OVARY | 69552611 | 69552746 | 69552666 | 69552666 | Missense_Mutation | C | A | p.S301R |
| RPMI2650_UPPER_AERODIGESTIVE_TRACT | 69552611 | 69552746 | 69552683 | 69552683 | Missense_Mutation | G | A | p.R307H |
| NCIH650_LUNG | 69552611 | 69552746 | 69552695 | 69552695 | Missense_Mutation | C | A | p.P311H |
| CORL32_LUNG | 69552611 | 69552746 | 69552733 | 69552733 | Missense_Mutation | T | C | p.S324P |
| HCT15_LARGE_INTESTINE | 69688634 | 69688684 | 69688674 | 69688674 | Missense_Mutation | A | G | p.Y396C |
| GT3TKB_STOMACH | 69728121 | 69728180 | 69728131 | 69728131 | Missense_Mutation | T | A | p.D434E |
| CAL12T_LUNG | 69728121 | 69728180 | 69728148 | 69728148 | Missense_Mutation | C | T | p.P440L |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 69380927 | 69381055 | 69380955 | 69380955 | Nonsense_Mutation | G | A | p.W126* |
| A375_SKIN | 69380927 | 69381055 | 69381052 | 69381052 | Nonsense_Mutation | C | T | p.R159* |
| KYSE180_OESOPHAGUS | 69688634 | 69688684 | 69688682 | 69688682 | Nonsense_Mutation | G | T | p.E399* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C8orf34 |
| 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 C8orf34 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C8orf34 |
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RelatedDrugs for C8orf34 |
| 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 C8orf34 |
| 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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