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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 NSUN6 |
 Gene summary |
| Gene information | Gene symbol | NSUN6 | Gene ID | 221078 |
| Gene name | NOP2/Sun RNA methyltransferase family member 6 | |
| Synonyms | 4933414E04Rik|ARL5B-AS1|NOPD1 | |
| Cytomap | 10p12.31 | |
| Type of gene | protein-coding | |
| Description | putative methyltransferase NSUN6ARL5B antisense RNA 1NOL1/NOP2/Sun and PUA domain-containing protein 1NOL1/NOP2/Sun domain family, member 6NOP2/Sun domain family, member 6nucleolar protein (NOL1/NOP2/sun) and PUA domains 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TEA1 | |
| Context | PubMed: NSUN6 [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 NSUN6 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 NSUN6 |
| 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 NSUN6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48154 | 10 | 18837040:18837166:18840751:18840900:18874877:18875022 | 18840751:18840900 | ENSG00000241058.1 | ENST00000377304.4 |
| exon_skip_48159 | 10 | 18840751:18840900:18874877:18875022:18885136:18885256 | 18874877:18875022 | ENSG00000241058.1 | ENST00000377304.4 |
| exon_skip_48164 | 10 | 18885136:18885256:18898773:18898855:18903388:18903542 | 18898773:18898855 | ENSG00000241058.1 | ENST00000377304.4 |
| exon_skip_48170 | 10 | 18898773:18898855:18903388:18903542:18905112:18905222 | 18903388:18903542 | ENSG00000241058.1 | ENST00000377304.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NSUN6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48154 | 10 | 18837040:18837166:18840751:18840900:18874877:18875022 | 18840751:18840900 | ENSG00000241058.1 | ENST00000377304.4 |
| exon_skip_48159 | 10 | 18840751:18840900:18874877:18875022:18885136:18885256 | 18874877:18875022 | ENSG00000241058.1 | ENST00000377304.4 |
| exon_skip_48164 | 10 | 18885136:18885256:18898773:18898855:18903388:18903542 | 18898773:18898855 | ENSG00000241058.1 | ENST00000377304.4 |
| exon_skip_48170 | 10 | 18898773:18898855:18903388:18903542:18905112:18905222 | 18903388:18903542 | ENSG00000241058.1 | ENST00000377304.4 |
| 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 NSUN6 |
| 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 |
| ENST00000377304 | 18840751 | 18840900 | Frame-shift |
| ENST00000377304 | 18874877 | 18875022 | Frame-shift |
| ENST00000377304 | 18898773 | 18898855 | Frame-shift |
| ENST00000377304 | 18903388 | 18903542 | 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 |
| ENST00000377304 | 18840751 | 18840900 | Frame-shift |
| ENST00000377304 | 18874877 | 18875022 | Frame-shift |
| ENST00000377304 | 18898773 | 18898855 | Frame-shift |
| ENST00000377304 | 18903388 | 18903542 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NSUN6 |
| 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 NSUN6 |
| - 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-A1EG-01 | exon_skip_48154 | 18840752 | 18840900 | 18840834 | 18840834 | Frame_Shift_Del | C | - | p.G330fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_48164 | 18898774 | 18898855 | 18898814 | 18898814 | Frame_Shift_Del | G | - | p.P206fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_48164 | 18898774 | 18898855 | 18898847 | 18898847 | Frame_Shift_Del | C | - | p.G195fs |
| KIRC | TCGA-BP-5176-01 | exon_skip_48159 | 18874878 | 18875022 | 18874976 | 18874977 | Frame_Shift_Ins | - | T | p.I275fs |
| KIRC | TCGA-BP-5176-01 | exon_skip_48159 | 18874878 | 18875022 | 18874976 | 18874977 | Frame_Shift_Ins | - | T | p.Q275fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_48154 | 18840752 | 18840900 | 18840769 | 18840769 | Nonsense_Mutation | G | A | p.R352* |
| SKCM | TCGA-FS-A1ZA-06 | exon_skip_48154 | 18840752 | 18840900 | 18840781 | 18840781 | Nonsense_Mutation | G | A | p.Q348* |
| SKCM | TCGA-FS-A1ZA-06 | exon_skip_48154 | 18840752 | 18840900 | 18840781 | 18840781 | Nonsense_Mutation | G | A | p.Q348X |
| BLCA | TCGA-GV-A3JX-01 | exon_skip_48154 | 18840752 | 18840900 | 18840786 | 18840786 | Nonsense_Mutation | G | T | p.S346* |
| THCA | TCGA-KS-A4IB-01 | exon_skip_48154 | 18840752 | 18840900 | 18840835 | 18840835 | Nonsense_Mutation | C | A | p.G330* |
| THCA | TCGA-KS-A4IB-01 | exon_skip_48154 | 18840752 | 18840900 | 18840835 | 18840835 | Nonsense_Mutation | C | A | p.G330X |
| SKCM | TCGA-D3-A5GO-06 | exon_skip_48159 | 18874878 | 18875022 | 18874971 | 18874971 | Nonsense_Mutation | G | A | p.Q277* |
| SKCM | TCGA-D3-A5GO-06 | exon_skip_48159 | 18874878 | 18875022 | 18874971 | 18874971 | Nonsense_Mutation | G | A | p.Q277X |
| READ | TCGA-EI-6917-01 | exon_skip_48170 | 18903389 | 18903542 | 18903417 | 18903417 | Nonsense_Mutation | C | A | p.E183X |
| - 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 |
| SNU1040_LARGE_INTESTINE | 18840752 | 18840900 | 18840817 | 18840817 | Missense_Mutation | C | T | p.A336T |
| RL952_ENDOMETRIUM | 18840752 | 18840900 | 18840852 | 18840852 | Missense_Mutation | G | A | p.A324V |
| HT115_LARGE_INTESTINE | 18840752 | 18840900 | 18840862 | 18840862 | Missense_Mutation | G | T | p.L321I |
| 5637_URINARY_TRACT | 18840752 | 18840900 | 18840898 | 18840898 | Missense_Mutation | C | T | p.E309K |
| CAL148_BREAST | 18840752 | 18840900 | 18840898 | 18840898 | Missense_Mutation | C | T | p.E309K |
| COLO680N_OESOPHAGUS | 18874878 | 18875022 | 18874893 | 18874893 | Missense_Mutation | C | A | p.V303L |
| NCIH1304_LUNG | 18874878 | 18875022 | 18874986 | 18874986 | Missense_Mutation | C | T | p.V272I |
| NCIH2227_LUNG | 18898774 | 18898855 | 18898790 | 18898790 | Missense_Mutation | C | A | p.R214L |
| C33A_CERVIX | 18898774 | 18898855 | 18898791 | 18898791 | Missense_Mutation | G | T | p.R214S |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18898774 | 18898855 | 18898805 | 18898805 | Missense_Mutation | T | C | p.D209G |
| UMUC5_URINARY_TRACT | 18898774 | 18898855 | 18898811 | 18898811 | Missense_Mutation | G | A | p.S207L |
| NCIH889_LUNG | 18898774 | 18898855 | 18898848 | 18898848 | Missense_Mutation | C | A | p.G195C |
| NCIH1339_LUNG | 18903389 | 18903542 | 18903400 | 18903400 | Missense_Mutation | T | A | p.L188F |
| NCIH2291_LUNG | 18903389 | 18903542 | 18903504 | 18903504 | Missense_Mutation | T | C | p.I154V |
| MFE319_ENDOMETRIUM | 18840752 | 18840900 | 18840806 | 18840806 | Nonsense_Mutation | C | T | p.W339* |
| NCIH1963_LUNG | 18840752 | 18840900 | 18840753 | 18840753 | Splice_Site | G | A | p.A357V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NSUN6 |
| 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 NSUN6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NSUN6 |
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RelatedDrugs for NSUN6 |
| 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 NSUN6 |
| 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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