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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for NOL9 |
Gene summary |
Gene information | Gene symbol | NOL9 | Gene ID | 79707 |
Gene name | nucleolar protein 9 | |
Synonyms | Grc3|NET6 | |
Cytomap | 1p36.31 | |
Type of gene | protein-coding | |
Description | polynucleotide 5'-hydroxyl-kinase NOL9polynucleotide 5'-kinase | |
Modification date | 20180523 | |
UniProtAcc | Q5SY16 | |
Context | PubMed: NOL9 [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 NOL9 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 NOL9 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NOL9 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_21411 | 1 | 6581406:6586063:6586755:6586889:6589053:6589231 | 6586755:6586889 | ENSG00000162408.10 | ENST00000377705.5 |
exon_skip_21414 | 1 | 6586755:6586889:6589053:6589231:6592027:6592139 | 6589053:6589231 | ENSG00000162408.10 | ENST00000377705.5 |
exon_skip_21416 | 1 | 6593339:6593501:6601889:6601987:6604885:6604979 | 6601889:6601987 | ENSG00000162408.10 | ENST00000464383.1,ENST00000377705.5 |
exon_skip_21429 | 1 | 6604885:6604982:6605104:6605240:6609630:6609758 | 6605104:6605240 | ENSG00000162408.10 | ENST00000377705.5 |
exon_skip_21432 | 1 | 6605104:6605240:6609630:6609758:6610455:6610548 | 6609630:6609758 | ENSG00000162408.10 | ENST00000377705.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NOL9 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_21411 | 1 | 6581406:6586063:6586755:6586889:6589053:6589231 | 6586755:6586889 | ENSG00000162408.10 | ENST00000377705.5 |
exon_skip_21414 | 1 | 6586755:6586889:6589053:6589231:6592027:6592139 | 6589053:6589231 | ENSG00000162408.10 | ENST00000377705.5 |
exon_skip_21416 | 1 | 6593339:6593501:6601889:6601987:6604885:6604979 | 6601889:6601987 | ENSG00000162408.10 | ENST00000377705.5,ENST00000464383.1 |
exon_skip_21429 | 1 | 6604885:6604982:6605104:6605240:6609630:6609758 | 6605104:6605240 | ENSG00000162408.10 | ENST00000377705.5 |
exon_skip_21432 | 1 | 6605104:6605240:6609630:6609758:6610455:6610548 | 6609630:6609758 | ENSG00000162408.10 | ENST00000377705.5 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NOL9 |
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 |
ENST00000377705 | 6586755 | 6586889 | Frame-shift |
ENST00000377705 | 6589053 | 6589231 | Frame-shift |
ENST00000377705 | 6601889 | 6601987 | Frame-shift |
ENST00000377705 | 6605104 | 6605240 | Frame-shift |
ENST00000377705 | 6609630 | 6609758 | 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 |
ENST00000377705 | 6586755 | 6586889 | Frame-shift |
ENST00000377705 | 6589053 | 6589231 | Frame-shift |
ENST00000377705 | 6601889 | 6601987 | Frame-shift |
ENST00000377705 | 6605104 | 6605240 | Frame-shift |
ENST00000377705 | 6609630 | 6609758 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NOL9 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 NOL9 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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-G3-A3CJ-01 | exon_skip_21411 | 6586756 | 6586889 | 6586869 | 6586869 | Frame_Shift_Del | T | - | p.M616fs |
COAD | TCGA-G4-6628-01 | exon_skip_21429 | 6605105 | 6605240 | 6605171 | 6605171 | Frame_Shift_Del | T | - | p.R272fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_21429 | 6605105 | 6605240 | 6605171 | 6605171 | Frame_Shift_Del | T | - | p.R272fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_21429 | 6605105 | 6605240 | 6605171 | 6605171 | Frame_Shift_Del | T | - | p.R272fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_21429 | 6605105 | 6605240 | 6605171 | 6605171 | Frame_Shift_Del | T | - | p.R272fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_21429 | 6605105 | 6605240 | 6605171 | 6605171 | Frame_Shift_Del | T | - | p.R272fs |
STAD | TCGA-BR-A4QL-01 | exon_skip_21429 | 6605105 | 6605240 | 6605171 | 6605171 | Frame_Shift_Del | T | - | p.R272fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_21432 | 6609631 | 6609758 | 6609677 | 6609677 | Frame_Shift_Del | T | - | p.N233fs |
THCA | TCGA-EM-A4FU-01 | exon_skip_21416 | 6601890 | 6601987 | 6601950 | 6601950 | Nonsense_Mutation | G | A | p.Q339* |
LUAD | TCGA-69-7765-01 | exon_skip_21411 | 6586756 | 6586889 | 6586755 | 6586755 | Splice_Site | C | A | p.Q653_splice |
- 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 |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6586756 | 6586889 | 6586829 | 6586829 | Frame_Shift_Del | G | - | p.P629fs |
RH4_SOFT_TISSUE | 6589054 | 6589231 | 6589114 | 6589115 | Frame_Shift_Del | CT | - | p.G589fs |
SKOV3_OVARY | 6605105 | 6605240 | 6605170 | 6605171 | Frame_Shift_Ins | - | T | p.R272fs |
SKMEL31_SKIN | 6586756 | 6586889 | 6586829 | 6586829 | Missense_Mutation | G | A | p.P629L |
CHL1_SKIN | 6586756 | 6586889 | 6586877 | 6586877 | Missense_Mutation | C | T | p.G613D |
HMCB_SKIN | 6586756 | 6586889 | 6586877 | 6586877 | Missense_Mutation | C | T | p.G613D |
TE11_OESOPHAGUS | 6589054 | 6589231 | 6589061 | 6589061 | Missense_Mutation | C | G | p.L606F |
HS618T_FIBROBLAST | 6589054 | 6589231 | 6589096 | 6589096 | Missense_Mutation | T | C | p.I595V |
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6589054 | 6589231 | 6589172 | 6589172 | Missense_Mutation | T | C | p.I569M |
JHOS4_OVARY | 6601890 | 6601987 | 6601908 | 6601908 | Missense_Mutation | T | C | p.I353V |
HEC251_ENDOMETRIUM | 6601890 | 6601987 | 6601919 | 6601919 | Missense_Mutation | G | T | p.S349Y |
SN12C_KIDNEY | 6601890 | 6601987 | 6601925 | 6601925 | Missense_Mutation | C | A | p.C347F |
YD38_UPPER_AERODIGESTIVE_TRACT | 6601890 | 6601987 | 6601983 | 6601983 | Missense_Mutation | G | A | p.P328S |
MM127_SKIN | 6605105 | 6605240 | 6605147 | 6605147 | Missense_Mutation | T | A | p.S280C |
CW2_LARGE_INTESTINE | 6605105 | 6605240 | 6605161 | 6605161 | Missense_Mutation | A | C | p.L275R |
CHL1_SKIN | 6605105 | 6605240 | 6605162 | 6605162 | Missense_Mutation | G | A | p.L275F |
HMCB_SKIN | 6605105 | 6605240 | 6605162 | 6605162 | Missense_Mutation | G | A | p.L275F |
HCT15_LARGE_INTESTINE | 6605105 | 6605240 | 6605194 | 6605194 | Missense_Mutation | A | G | p.V264A |
DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6609631 | 6609758 | 6609650 | 6609650 | Missense_Mutation | G | C | p.S242C |
NEC8_TESTIS | 6609631 | 6609758 | 6609653 | 6609653 | Missense_Mutation | G | A | p.S241L |
TE4_OESOPHAGUS | 6609631 | 6609758 | 6609735 | 6609735 | Missense_Mutation | T | C | p.N214D |
M1203273_SKIN | 6605105 | 6605240 | 6605211 | 6605211 | Nonsense_Mutation | A | T | p.Y258* |
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 6586756 | 6586889 | 6586757 | 6586757 | Splice_Site | T | G | p.Q653P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOL9 |
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 NOL9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOL9 |
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RelatedDrugs for NOL9 |
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 NOL9 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |