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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 C16orf70 |
 Gene summary |
| Gene information | Gene symbol | C16orf70 | Gene ID | 80262 |
| Gene name | chromosome 16 open reading frame 70 | |
| Synonyms | C16orf6|LIN10|lin-10 | |
| Cytomap | 16q22.1 | |
| Type of gene | protein-coding | |
| Description | UPF0183 protein C16orf70lin-10 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BSU1 | |
| Context | PubMed: C16orf70 [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 C16orf70 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 C16orf70 |
| 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 C16orf70 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137506 | 16 | 67143865:67143892:67144021:67144142:67154014:67154097 | 67144021:67144142 | ENSG00000125149.7 | ENST00000569600.1 |
| exon_skip_137509 | 16 | 67144049:67144142:67154014:67154097:67159861:67159945 | 67154014:67154097 | ENSG00000125149.7 | ENST00000569600.1,ENST00000569683.1,ENST00000563853.2,ENST00000219139.3 |
| exon_skip_137511 | 16 | 67154014:67154097:67159861:67159945:67165188:67165232 | 67159861:67159945 | ENSG00000125149.7 | ENST00000569600.1,ENST00000569683.1,ENST00000563853.2,ENST00000219139.3,ENST00000569626.1 |
| exon_skip_137514 | 16 | 67159861:67159945:67165188:67165232:67166348:67166428 | 67165188:67165232 | ENSG00000125149.7 | ENST00000569600.1,ENST00000569683.1,ENST00000563853.2,ENST00000219139.3,ENST00000569626.1 |
| exon_skip_137518 | 16 | 67165188:67165232:67166348:67166814:67168070:67168168 | 67166348:67166814 | ENSG00000125149.7 | ENST00000569626.1 |
| exon_skip_137522 | 16 | 67178196:67178279:67178736:67178780:67179278:67179322 | 67178736:67178780 | ENSG00000125149.7 | ENST00000569600.1,ENST00000219139.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C16orf70 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137506 | 16 | 67143865:67143892:67144021:67144142:67154014:67154097 | 67144021:67144142 | ENSG00000125149.7 | ENST00000569600.1 |
| exon_skip_137509 | 16 | 67144049:67144142:67154014:67154097:67159861:67159945 | 67154014:67154097 | ENSG00000125149.7 | ENST00000563853.2,ENST00000569600.1,ENST00000219139.3,ENST00000569683.1 |
| exon_skip_137511 | 16 | 67154014:67154097:67159861:67159945:67165188:67165232 | 67159861:67159945 | ENSG00000125149.7 | ENST00000563853.2,ENST00000569600.1,ENST00000219139.3,ENST00000569683.1,ENST00000569626.1 |
| exon_skip_137514 | 16 | 67159861:67159945:67165188:67165232:67166348:67166428 | 67165188:67165232 | ENSG00000125149.7 | ENST00000563853.2,ENST00000569600.1,ENST00000219139.3,ENST00000569683.1,ENST00000569626.1 |
| exon_skip_137518 | 16 | 67165188:67165232:67166348:67166814:67168070:67168168 | 67166348:67166814 | ENSG00000125149.7 | ENST00000569626.1 |
| exon_skip_137522 | 16 | 67178196:67178279:67178736:67178780:67179278:67179322 | 67178736:67178780 | ENSG00000125149.7 | ENST00000569600.1,ENST00000219139.3 |
| 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 C16orf70 |
| 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 |
| ENST00000569600 | 67144021 | 67144142 | 5CDS-5UTR |
| ENST00000219139 | 67154014 | 67154097 | Frame-shift |
| ENST00000569600 | 67154014 | 67154097 | Frame-shift |
| ENST00000219139 | 67165188 | 67165232 | Frame-shift |
| ENST00000569600 | 67165188 | 67165232 | Frame-shift |
| ENST00000219139 | 67178736 | 67178780 | Frame-shift |
| ENST00000569600 | 67178736 | 67178780 | Frame-shift |
| ENST00000219139 | 67159861 | 67159945 | In-frame |
| ENST00000569600 | 67159861 | 67159945 | 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 |
| ENST00000569600 | 67144021 | 67144142 | 5CDS-5UTR |
| ENST00000219139 | 67154014 | 67154097 | Frame-shift |
| ENST00000569600 | 67154014 | 67154097 | Frame-shift |
| ENST00000219139 | 67165188 | 67165232 | Frame-shift |
| ENST00000569600 | 67165188 | 67165232 | Frame-shift |
| ENST00000219139 | 67178736 | 67178780 | Frame-shift |
| ENST00000569600 | 67178736 | 67178780 | Frame-shift |
| ENST00000219139 | 67159861 | 67159945 | In-frame |
| ENST00000569600 | 67159861 | 67159945 | In-frame |
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Infer the effects of exon skipping event on protein functional features for C16orf70 |
| 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 |
| ENST00000219139 | 2882 | 422 | 67159861 | 67159945 | 336 | 419 | 49 | 77 |
| ENST00000569600 | 1370 | 422 | 67159861 | 67159945 | 232 | 315 | 49 | 77 |
| 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 |
| ENST00000219139 | 2882 | 422 | 67159861 | 67159945 | 336 | 419 | 49 | 77 |
| ENST00000569600 | 1370 | 422 | 67159861 | 67159945 | 232 | 315 | 49 | 77 |
| 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 |
| Q9BSU1 | 49 | 77 | 1 | 422 | Chain | ID=PRO_0000221083;Note=UPF0183 protein C16orf70 |
| Q9BSU1 | 49 | 77 | 1 | 422 | Chain | ID=PRO_0000221083;Note=UPF0183 protein C16orf70 |
| 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 |
| Q9BSU1 | 49 | 77 | 1 | 422 | Chain | ID=PRO_0000221083;Note=UPF0183 protein C16orf70 |
| Q9BSU1 | 49 | 77 | 1 | 422 | Chain | ID=PRO_0000221083;Note=UPF0183 protein C16orf70 |
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SNVs in the skipped exons for C16orf70 |
| - 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. |
C16orf70_OV_exon_skip_137511_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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_137506 | 67144022 | 67144142 | 67144114 | 67144114 | Frame_Shift_Del | G | - | p.L12fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_137506 | 67144022 | 67144142 | 67144128 | 67144128 | Frame_Shift_Del | G | - | p.W17fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_137518 | 67166349 | 67166814 | 67166358 | 67166358 | Frame_Shift_Del | T | - | p.H95fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_137518 | 67166349 | 67166814 | 67166755 | 67166755 | Frame_Shift_Del | T | - | p.F131fs |
| BLCA | TCGA-XF-AAMY-01 | exon_skip_137518 | 67166349 | 67166814 | 67166812 | 67166812 | Nonsense_Mutation | G | T | p.E150* |
| OV | TCGA-61-2102-01 | exon_skip_137511 | 67159862 | 67159945 | 67159946 | 67159947 | Splice_Site | - | T | p.K77_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-61-2102-01 |
| Cancer type: OV | |
| ESID: exon_skip_137511 | |
| Skipped exon start: 67159862 | |
| Skipped exon end: 67159945 | |
| Mutation start: 67159946 | |
| Mutation end: 67159947 | |
| Mutation type: Splice_Site | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.K77_splice | |
exon_skip_137511_OV_TCGA-61-2102-01.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 |
| SNU1040_LARGE_INTESTINE | 67154015 | 67154097 | 67154060 | 67154060 | Missense_Mutation | G | A | p.R37H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 67154015 | 67154097 | 67154069 | 67154069 | Missense_Mutation | A | G | p.K40R |
| JHUEM7_ENDOMETRIUM | 67154015 | 67154097 | 67154071 | 67154071 | Missense_Mutation | A | C | p.N41H |
| CW2_LARGE_INTESTINE | 67159862 | 67159945 | 67159877 | 67159877 | Missense_Mutation | G | A | p.D55N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67159862 | 67159945 | 67159911 | 67159911 | Missense_Mutation | A | C | p.K66T |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67166349 | 67166814 | 67166372 | 67166372 | Missense_Mutation | C | T | p.A100V |
| KM12_LARGE_INTESTINE | 67166349 | 67166814 | 67166378 | 67166378 | Missense_Mutation | C | T | p.A102V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67166349 | 67166814 | 67166386 | 67166386 | Missense_Mutation | A | G | p.I105V |
| HEC59_ENDOMETRIUM | 67178737 | 67178780 | 67178745 | 67178745 | Missense_Mutation | G | A | p.R324H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C16orf70 |
| 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 C16orf70 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C16orf70 |
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RelatedDrugs for C16orf70 |
| 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 C16orf70 |
| 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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