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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 NOL4 |
 Gene summary |
| Gene information | Gene symbol | NOL4 | Gene ID | 8715 |
| Gene name | nucleolar protein 4 | |
| Synonyms | CT125|HRIHFB2255|NOLP | |
| Cytomap | 18q12.1 | |
| Type of gene | protein-coding | |
| Description | nucleolar protein 4cancer/testis antigen 125nucleolar localized protein | |
| Modification date | 20180519 | |
| UniProtAcc | O94818 | |
| Context | PubMed: NOL4 [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 NOL4 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 NOL4 |
| 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 NOL4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_298799 | 18 | 31432552:31432999:31463207:31463388:31523028:31523142 | 31463207:31463388 | ENSG00000101746.11 | ENST00000538587.1,ENST00000586314.1,ENST00000261592.5,ENST00000535475.1,ENST00000535384.1,ENST00000590712.1 |
| exon_skip_298800 | 18 | 31463207:31463388:31523028:31523142:31538202:31538382 | 31523028:31523142 | ENSG00000101746.11 | ENST00000586314.1,ENST00000535475.1,ENST00000590712.1,ENST00000586553.1 |
| exon_skip_298801 | 18 | 31523028:31523142:31537289:31537481:31538202:31538382 | 31537289:31537481 | ENSG00000101746.11 | ENST00000538587.1,ENST00000261592.5,ENST00000535384.1 |
| exon_skip_298803 | 18 | 31538202:31538382:31599281:31599565:31673428:31673561 | 31599281:31599565 | ENSG00000101746.11 | ENST00000538587.1,ENST00000586314.1,ENST00000261592.5,ENST00000269185.4,ENST00000535475.1,ENST00000589544.1,ENST00000590712.1 |
| exon_skip_298809 | 18 | 31684017:31684123:31685012:31685124:31709834:31709984 | 31685012:31685124 | ENSG00000101746.11 | ENST00000538587.1,ENST00000587953.1,ENST00000261592.5,ENST00000588280.1,ENST00000269185.4,ENST00000589544.1,ENST00000590712.1 |
| exon_skip_298810 | 18 | 31685088:31685124:31701197:31701280:31709834:31709984 | 31701197:31701280 | ENSG00000101746.11 | ENST00000591917.1 |
| exon_skip_298811 | 18 | 31685088:31685124:31708812:31708853:31709834:31709984 | 31708812:31708853 | ENSG00000101746.11 | ENST00000586314.1,ENST00000535475.1 |
| exon_skip_298814 | 18 | 31709834:31709984:31763481:31763590:31801983:31802253 | 31763481:31763590 | ENSG00000101746.11 | ENST00000586309.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NOL4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_298799 | 18 | 31432552:31432999:31463207:31463388:31523028:31523142 | 31463207:31463388 | ENSG00000101746.11 | ENST00000261592.5,ENST00000535384.1,ENST00000586314.1,ENST00000535475.1,ENST00000538587.1,ENST00000590712.1 |
| exon_skip_298801 | 18 | 31523028:31523142:31537289:31537481:31538202:31538382 | 31537289:31537481 | ENSG00000101746.11 | ENST00000261592.5,ENST00000535384.1,ENST00000538587.1 |
| exon_skip_298803 | 18 | 31538202:31538382:31599281:31599565:31673428:31673561 | 31599281:31599565 | ENSG00000101746.11 | ENST00000261592.5,ENST00000269185.4,ENST00000586314.1,ENST00000589544.1,ENST00000535475.1,ENST00000538587.1,ENST00000590712.1 |
| exon_skip_298809 | 18 | 31684017:31684123:31685012:31685124:31709834:31709984 | 31685012:31685124 | ENSG00000101746.11 | ENST00000261592.5,ENST00000269185.4,ENST00000589544.1,ENST00000538587.1,ENST00000590712.1,ENST00000588280.1,ENST00000587953.1 |
| exon_skip_298810 | 18 | 31685088:31685124:31701197:31701280:31709834:31709984 | 31701197:31701280 | ENSG00000101746.11 | ENST00000591917.1 |
| exon_skip_298811 | 18 | 31685088:31685124:31708812:31708853:31709834:31709984 | 31708812:31708853 | ENSG00000101746.11 | ENST00000586314.1,ENST00000535475.1 |
| 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 NOL4 |
| 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 |
| ENST00000261592 | 31463207 | 31463388 | Frame-shift |
| ENST00000261592 | 31599281 | 31599565 | Frame-shift |
| ENST00000261592 | 31685012 | 31685124 | Frame-shift |
| ENST00000261592 | 31537289 | 31537481 | 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 |
| ENST00000261592 | 31463207 | 31463388 | Frame-shift |
| ENST00000261592 | 31599281 | 31599565 | Frame-shift |
| ENST00000261592 | 31685012 | 31685124 | Frame-shift |
| ENST00000261592 | 31537289 | 31537481 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NOL4 |
| 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 |
| ENST00000261592 | 3974 | 638 | 31537289 | 31537481 | 1535 | 1726 | 412 | 476 |
| 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 |
| ENST00000261592 | 3974 | 638 | 31537289 | 31537481 | 1535 | 1726 | 412 | 476 |
| 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 |
| O94818 | 412 | 476 | 413 | 514 | Alternative sequence | ID=VSP_010080;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5,ECO:0000303|Ref.6;Dbxref=PMID:15489334 |
| O94818 | 412 | 476 | 1 | 638 | Chain | ID=PRO_0000096935;Note=Nucleolar protein 4 |
| 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 |
| O94818 | 412 | 476 | 413 | 514 | Alternative sequence | ID=VSP_010080;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5,ECO:0000303|Ref.6;Dbxref=PMID:15489334 |
| O94818 | 412 | 476 | 1 | 638 | Chain | ID=PRO_0000096935;Note=Nucleolar protein 4 |
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SNVs in the skipped exons for NOL4 |
| - 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_298799 | 31463208 | 31463388 | 31463282 | 31463282 | Frame_Shift_Del | T | - | p.N550fs |
| LIHC | TCGA-CC-A7IG-01 | exon_skip_298800 | 31523029 | 31523142 | 31523091 | 31523097 | Frame_Shift_Del | CCAAGAT | - | p.492_494del |
| LIHC | TCGA-CC-A7IG-01 | exon_skip_298800 | 31523029 | 31523142 | 31523091 | 31523097 | Frame_Shift_Del | CCAAGAT | - | p.ILA492fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_298801 | 31537290 | 31537481 | 31537347 | 31537347 | Frame_Shift_Del | T | - | p.K457fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_298803 | 31599282 | 31599565 | 31599349 | 31599349 | Frame_Shift_Del | T | - | p.N330fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_298803 | 31599282 | 31599565 | 31599407 | 31599407 | Frame_Shift_Del | G | - | p.L311fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_298809 | 31685013 | 31685124 | 31685036 | 31685036 | Frame_Shift_Del | T | - | p.N168fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_298809 | 31685013 | 31685124 | 31685039 | 31685039 | Frame_Shift_Del | A | - | p.L167fs |
| BLCA | TCGA-4Z-AA80-01 | exon_skip_298799 | 31463208 | 31463388 | 31463352 | 31463352 | Nonsense_Mutation | C | A | p.E527* |
| PAAD | TCGA-IB-7651-01 | exon_skip_298801 | 31537290 | 31537481 | 31537445 | 31537445 | Nonsense_Mutation | G | A | p.R425* |
| PAAD | TCGA-IB-7651-01 | exon_skip_298801 | 31537290 | 31537481 | 31537445 | 31537445 | Nonsense_Mutation | G | A | p.R425X |
| LIHC | TCGA-2Y-A9H9-01 | exon_skip_298803 | 31599282 | 31599565 | 31599308 | 31599308 | Nonsense_Mutation | G | A | p.R344X |
| ESCA | TCGA-LN-A7HV-01 | exon_skip_298800 | 31523029 | 31523142 | 31523144 | 31523145 | Splice_Site | - | A | e9-2 |
| STAD | TCGA-VQ-AA64-01 | exon_skip_298803 | 31599282 | 31599565 | 31599567 | 31599567 | Splice_Site | T | G | . |
| - 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 |
| NCIH2172_LUNG | 31599282 | 31599565 | 31599499 | 31599499 | Frame_Shift_Del | C | - | p.G280fs |
| KYSE220_OESOPHAGUS | 31463208 | 31463388 | 31463250 | 31463250 | Missense_Mutation | G | T | p.L561I |
| HS936T_SKIN | 31463208 | 31463388 | 31463285 | 31463285 | Missense_Mutation | C | T | p.G549E |
| SNUC2A_LARGE_INTESTINE | 31463208 | 31463388 | 31463339 | 31463339 | Missense_Mutation | G | A | p.A531V |
| CL34_LARGE_INTESTINE | 31523029 | 31523142 | 31523045 | 31523045 | Missense_Mutation | C | T | p.R509H |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31523029 | 31523142 | 31523046 | 31523046 | Missense_Mutation | G | A | p.R509C |
| HOP92_LUNG | 31523029 | 31523142 | 31523085 | 31523085 | Missense_Mutation | C | T | p.A496T |
| KMH2_THYROID | 31523029 | 31523142 | 31523085 | 31523085 | Missense_Mutation | C | G | p.A496P |
| CHL1_SKIN | 31537290 | 31537481 | 31537444 | 31537444 | Missense_Mutation | C | T | p.R425Q |
| 2313287_STOMACH | 31599282 | 31599565 | 31599325 | 31599325 | Missense_Mutation | G | C | p.S338C |
| ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 31599282 | 31599565 | 31599334 | 31599334 | Missense_Mutation | A | C | p.L335R |
| RKO_LARGE_INTESTINE | 31599282 | 31599565 | 31599388 | 31599388 | Missense_Mutation | G | C | p.S317W |
| SNU81_LARGE_INTESTINE | 31599282 | 31599565 | 31599392 | 31599392 | Missense_Mutation | T | G | p.T316P |
| OC316_OVARY | 31599282 | 31599565 | 31599421 | 31599421 | Missense_Mutation | A | G | p.L306P |
| OC314_OVARY | 31599282 | 31599565 | 31599421 | 31599421 | Missense_Mutation | A | G | p.L306P |
| OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31599282 | 31599565 | 31599423 | 31599423 | Missense_Mutation | G | T | p.N305K |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31599282 | 31599565 | 31599469 | 31599469 | Missense_Mutation | T | C | p.N290S |
| KYSE70_OESOPHAGUS | 31599282 | 31599565 | 31599492 | 31599492 | Missense_Mutation | G | T | p.H282Q |
| NCIH1339_LUNG | 31599282 | 31599565 | 31599536 | 31599536 | Missense_Mutation | T | A | p.N268Y |
| OVMIU_OVARY | 31685013 | 31685124 | 31685019 | 31685019 | Missense_Mutation | G | A | p.H174Y |
| HEC251_ENDOMETRIUM | 31685013 | 31685124 | 31685081 | 31685081 | Missense_Mutation | C | T | p.R153Q |
| NCIH1385_LUNG | 31685013 | 31685124 | 31685091 | 31685091 | Missense_Mutation | C | A | p.A150S |
| SNU1040_LARGE_INTESTINE | 31537290 | 31537481 | 31537445 | 31537445 | Nonsense_Mutation | G | A | p.R425* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOL4 |
| 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 NOL4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOL4 |
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RelatedDrugs for NOL4 |
| 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 NOL4 |
| 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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