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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 GNL2 |
 Gene summary |
| Gene information | Gene symbol | GNL2 | Gene ID | 29889 |
| Gene name | G protein nucleolar 2 | |
| Synonyms | HUMAUANTIG|NGP1|Ngp-1|Nog2|Nug2 | |
| Cytomap | 1p34.3 | |
| Type of gene | protein-coding | |
| Description | nucleolar GTP-binding protein 2autoantigen NGP-1guanine nucleotide binding protein-like 2 (nucleolar)novel nucleolar guanosine 5'-triphosphate binding protein autoantigennucleolar G-protein gene 1nucleolar GTPasenucleostemin-2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q13823 | |
| Context | PubMed: GNL2 [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 GNL2 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 GNL2 |
| 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 GNL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_25154 | 1 | 38032421:38032608:38033273:38033365:38033875:38033958 | 38033273:38033365 | ENSG00000134697.8 | ENST00000479255.1,ENST00000373062.3,ENST00000462812.1 |
| exon_skip_25155 | 1 | 38039943:38040057:38040265:38040424:38041195:38041300 | 38040265:38040424 | ENSG00000134697.8 | ENST00000373062.3 |
| exon_skip_25156 | 1 | 38042028:38042157:38046942:38047146:38047823:38047936 | 38046942:38047146 | ENSG00000134697.8 | ENST00000538069.1 |
| exon_skip_25158 | 1 | 38042028:38042157:38047823:38047937:38048378:38048410 | 38047823:38047937 | ENSG00000134697.8 | ENST00000469191.1,ENST00000373062.3 |
| exon_skip_25161 | 1 | 38049467:38049534:38052911:38053096:38056306:38056446 | 38052911:38053096 | ENSG00000134697.8 | ENST00000373062.3 |
| exon_skip_25164 | 1 | 38052911:38053096:38056306:38056446:38058312:38058407 | 38056306:38056446 | ENSG00000134697.8 | ENST00000373062.3 |
| exon_skip_25166 | 1 | 38058312:38058407:38059362:38059447:38061359:38061522 | 38059362:38059447 | ENSG00000134697.8 | ENST00000373062.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GNL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_25154 | 1 | 38032421:38032608:38033273:38033365:38033875:38033958 | 38033273:38033365 | ENSG00000134697.8 | ENST00000373062.3,ENST00000462812.1,ENST00000479255.1 |
| exon_skip_25155 | 1 | 38039943:38040057:38040265:38040424:38041195:38041300 | 38040265:38040424 | ENSG00000134697.8 | ENST00000373062.3 |
| exon_skip_25156 | 1 | 38042028:38042157:38046942:38047146:38047823:38047936 | 38046942:38047146 | ENSG00000134697.8 | ENST00000538069.1 |
| exon_skip_25158 | 1 | 38042028:38042157:38047823:38047937:38048378:38048410 | 38047823:38047937 | ENSG00000134697.8 | ENST00000373062.3,ENST00000469191.1 |
| exon_skip_25161 | 1 | 38049467:38049534:38052911:38053096:38056306:38056446 | 38052911:38053096 | ENSG00000134697.8 | ENST00000373062.3 |
| exon_skip_25164 | 1 | 38052911:38053096:38056306:38056446:38058312:38058407 | 38056306:38056446 | ENSG00000134697.8 | ENST00000373062.3 |
| exon_skip_25166 | 1 | 38058312:38058407:38059362:38059447:38061359:38061522 | 38059362:38059447 | ENSG00000134697.8 | ENST00000373062.3 |
| 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 GNL2 |
| 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 |
| ENST00000373062 | 38033273 | 38033365 | Frame-shift |
| ENST00000373062 | 38052911 | 38053096 | Frame-shift |
| ENST00000373062 | 38056306 | 38056446 | Frame-shift |
| ENST00000373062 | 38059362 | 38059447 | Frame-shift |
| ENST00000373062 | 38040265 | 38040424 | In-frame |
| ENST00000373062 | 38047823 | 38047937 | 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 |
| ENST00000373062 | 38033273 | 38033365 | Frame-shift |
| ENST00000373062 | 38052911 | 38053096 | Frame-shift |
| ENST00000373062 | 38056306 | 38056446 | Frame-shift |
| ENST00000373062 | 38059362 | 38059447 | Frame-shift |
| ENST00000373062 | 38040265 | 38040424 | In-frame |
| ENST00000373062 | 38047823 | 38047937 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GNL2 |
| 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 |
| ENST00000373062 | 2351 | 731 | 38047823 | 38047937 | 895 | 1008 | 265 | 303 |
| ENST00000373062 | 2351 | 731 | 38040265 | 38040424 | 1243 | 1401 | 381 | 434 |
| 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 |
| ENST00000373062 | 2351 | 731 | 38047823 | 38047937 | 895 | 1008 | 265 | 303 |
| ENST00000373062 | 2351 | 731 | 38040265 | 38040424 | 1243 | 1401 | 381 | 434 |
| 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 |
| Q13823 | 265 | 303 | 1 | 731 | Chain | ID=PRO_0000215806;Note=Nucleolar GTP-binding protein 2 |
| Q13823 | 265 | 303 | 207 | 368 | Domain | Note=CP-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01058 |
| Q13823 | 265 | 303 | 284 | 284 | Sequence conflict | Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13823 | 381 | 434 | 1 | 731 | Chain | ID=PRO_0000215806;Note=Nucleolar GTP-binding protein 2 |
| 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 |
| Q13823 | 265 | 303 | 1 | 731 | Chain | ID=PRO_0000215806;Note=Nucleolar GTP-binding protein 2 |
| Q13823 | 265 | 303 | 207 | 368 | Domain | Note=CP-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01058 |
| Q13823 | 265 | 303 | 284 | 284 | Sequence conflict | Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13823 | 381 | 434 | 1 | 731 | Chain | ID=PRO_0000215806;Note=Nucleolar GTP-binding protein 2 |
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SNVs in the skipped exons for GNL2 |
| - 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_25154 | 38033274 | 38033365 | 38033353 | 38033353 | Frame_Shift_Del | T | - | p.K655fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_25161 | 38052912 | 38053096 | 38053061 | 38053061 | Frame_Shift_Del | A | - | p.F140fs |
| STAD | TCGA-CG-5721-01 | exon_skip_25164 | 38056307 | 38056446 | 38056409 | 38056409 | Frame_Shift_Del | T | - | p.F95fs |
| HNSC | TCGA-H7-8501-01 | exon_skip_25154 | 38033274 | 38033365 | 38033324 | 38033324 | Nonsense_Mutation | C | A | p.E665* |
| BLCA | TCGA-DK-A3X1-01 | exon_skip_25155 | 38040266 | 38040424 | 38040358 | 38040358 | Nonsense_Mutation | C | A | p.E404* |
| COAD | TCGA-AZ-4315-01 | exon_skip_25166 | 38059363 | 38059447 | 38059445 | 38059445 | Nonsense_Mutation | G | A | p.R23X |
| - 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 |
| H2369_PLEURA | 38033274 | 38033365 | 38033347 | 38033356 | Frame_Shift_Del | TTTCCCTTTT | - | p.KKGK654fs |
| NCIH838_LUNG | 38033274 | 38033365 | 38033290 | 38033290 | Missense_Mutation | G | T | p.A676E |
| SQ1_LUNG | 38033274 | 38033365 | 38033293 | 38033293 | Missense_Mutation | C | A | p.R675M |
| SNUC4_LARGE_INTESTINE | 38033274 | 38033365 | 38033316 | 38033316 | Missense_Mutation | C | A | p.Q667H |
| SNU81_LARGE_INTESTINE | 38033274 | 38033365 | 38033341 | 38033341 | Missense_Mutation | C | T | p.R659Q |
| LS180_LARGE_INTESTINE | 38033274 | 38033365 | 38033347 | 38033347 | Missense_Mutation | T | G | p.K657T |
| LN340_CENTRAL_NERVOUS_SYSTEM | 38033274 | 38033365 | 38033347 | 38033347 | Missense_Mutation | T | C | p.K657R |
| SNU324_PANCREAS | 38033274 | 38033365 | 38033362 | 38033362 | Missense_Mutation | G | T | p.P652H |
| HEC251_ENDOMETRIUM | 38040266 | 38040424 | 38040408 | 38040408 | Missense_Mutation | A | C | p.I387S |
| ISTMEL1_SKIN | 38047824 | 38047937 | 38047828 | 38047828 | Missense_Mutation | C | T | p.G302E |
| SNUC4_LARGE_INTESTINE | 38047824 | 38047937 | 38047912 | 38047912 | Missense_Mutation | T | C | p.Q274R |
| NCIBL1770_MATCHED_NORMAL_TISSUE | 38052912 | 38053096 | 38052989 | 38052989 | Missense_Mutation | G | C | p.I164M |
| NCIH2106_LUNG | 38052912 | 38053096 | 38052989 | 38052989 | Missense_Mutation | G | C | p.I164M |
| D502MG_CENTRAL_NERVOUS_SYSTEM | 38052912 | 38053096 | 38053002 | 38053002 | Missense_Mutation | A | G | p.M160T |
| YMB1E_BREAST | 38052912 | 38053096 | 38053026 | 38053026 | Missense_Mutation | C | T | p.R152Q |
| NCIH660_PROSTATE | 38056307 | 38056446 | 38056389 | 38056389 | Missense_Mutation | G | A | p.T101I |
| 639V_URINARY_TRACT | 38056307 | 38056446 | 38056392 | 38056392 | Missense_Mutation | T | A | p.D100V |
| NCIH2795_PLEURA | 38056307 | 38056446 | 38056404 | 38056404 | Missense_Mutation | T | G | p.Q96P |
| TTC642_SOFT_TISSUE | 38056307 | 38056446 | 38056419 | 38056419 | Missense_Mutation | G | A | p.S91L |
| EW1_BONE | 38059363 | 38059447 | 38059367 | 38059367 | Missense_Mutation | G | T | p.R49S |
| SUM149PT_BREAST | 38059363 | 38059447 | 38059385 | 38059385 | Missense_Mutation | T | C | p.M43V |
| YAMATO_SOFT_TISSUE | 38059363 | 38059447 | 38059397 | 38059397 | Missense_Mutation | G | A | p.R39W |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38059363 | 38059447 | 38059417 | 38059417 | Missense_Mutation | A | G | p.M32T |
| 2313287_STOMACH | 38052912 | 38053096 | 38052912 | 38052912 | Splice_Site | C | A | p.R190I |
| SNGM_ENDOMETRIUM | 38059363 | 38059447 | 38059363 | 38059363 | Splice_Site | C | A | p.R50M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GNL2 |
| 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 GNL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GNL2 |
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RelatedDrugs for GNL2 |
| 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 GNL2 |
| 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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