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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 NRAP |
Gene summary |
| Gene information | Gene symbol | NRAP | Gene ID | 4892 |
| Gene name | nebulin related anchoring protein | |
| Synonyms | N-RAP | |
| Cytomap | 10q25.3 | |
| Type of gene | protein-coding | |
| Description | nebulin-related-anchoring protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q86VF7 | |
| Context | PubMed: NRAP [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 NRAP 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 NRAP |
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 NRAP |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54134 | 10 | 115349424:115349556:115350336:115350648:115351952:115352060 | 115350336:115350648 | ENSG00000197893.9 | ENST00000369360.3,ENST00000359988.3,ENST00000369358.4,ENST00000360478.3 |
| exon_skip_54135 | 10 | 115350336:115350648:115351952:115352060:115355381:115355486 | 115351952:115352060 | ENSG00000197893.9 | ENST00000369360.3,ENST00000359988.3,ENST00000369358.4,ENST00000360478.3 |
| exon_skip_54138 | 10 | 115351952:115352060:115355381:115355486:115356844:115356943 | 115355381:115355486 | ENSG00000197893.9 | ENST00000369360.3,ENST00000359988.3,ENST00000369358.4,ENST00000360478.3 |
| exon_skip_54139 | 10 | 115357727:115357832:115364367:115364679:115365520:115365628 | 115364367:115364679 | ENSG00000197893.9 | ENST00000369360.3,ENST00000359988.3,ENST00000369358.4,ENST00000360478.3 |
| exon_skip_54140 | 10 | 115365936:115366041:115368172:115368271:115370217:115370322 | 115368172:115368271 | ENSG00000197893.9 | ENST00000369360.3,ENST00000359988.3,ENST00000369358.4,ENST00000360478.3 |
| exon_skip_54141 | 10 | 115371992:115372190:115373941:115374055:115374597:115374705 | 115373941:115374055 | ENSG00000197893.9 | ENST00000369360.3,ENST00000359988.3,ENST00000369358.4,ENST00000360478.3 |
| exon_skip_54142 | 10 | 115377213:115377312:115380362:115380467:115381627:115381939 | 115380362:115380467 | ENSG00000197893.9 | ENST00000369360.3,ENST00000359988.3,ENST00000369358.4,ENST00000360478.3 |
| exon_skip_54146 | 10 | 115381666:115381939:115383287:115383395:115384584:115384689 | 115383287:115383395 | ENSG00000197893.9 | ENST00000369360.3,ENST00000359988.3,ENST00000369358.4,ENST00000360478.3 |
| exon_skip_54148 | 10 | 115401123:115401231:115402692:115402797:115405583:115405700 | 115402692:115402797 | ENSG00000197893.9 | ENST00000359988.3,ENST00000369358.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NRAP |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54134 | 10 | 115349424:115349556:115350336:115350648:115351952:115352060 | 115350336:115350648 | ENSG00000197893.9 | ENST00000369360.3,ENST00000360478.3,ENST00000359988.3,ENST00000369358.4 |
| exon_skip_54135 | 10 | 115350336:115350648:115351952:115352060:115355381:115355486 | 115351952:115352060 | ENSG00000197893.9 | ENST00000369360.3,ENST00000360478.3,ENST00000359988.3,ENST00000369358.4 |
| exon_skip_54138 | 10 | 115351952:115352060:115355381:115355486:115356844:115356943 | 115355381:115355486 | ENSG00000197893.9 | ENST00000369360.3,ENST00000360478.3,ENST00000359988.3,ENST00000369358.4 |
| exon_skip_54139 | 10 | 115357727:115357832:115364367:115364679:115365520:115365628 | 115364367:115364679 | ENSG00000197893.9 | ENST00000369360.3,ENST00000360478.3,ENST00000359988.3,ENST00000369358.4 |
| exon_skip_54140 | 10 | 115365936:115366041:115368172:115368271:115370217:115370322 | 115368172:115368271 | ENSG00000197893.9 | ENST00000369360.3,ENST00000360478.3,ENST00000359988.3,ENST00000369358.4 |
| exon_skip_54141 | 10 | 115371992:115372190:115373941:115374055:115374597:115374705 | 115373941:115374055 | ENSG00000197893.9 | ENST00000369360.3,ENST00000360478.3,ENST00000359988.3,ENST00000369358.4 |
| exon_skip_54142 | 10 | 115377213:115377312:115380362:115380467:115381627:115381939 | 115380362:115380467 | ENSG00000197893.9 | ENST00000369360.3,ENST00000360478.3,ENST00000359988.3,ENST00000369358.4 |
| exon_skip_54146 | 10 | 115381666:115381939:115383287:115383395:115384584:115384689 | 115383287:115383395 | ENSG00000197893.9 | ENST00000369360.3,ENST00000360478.3,ENST00000359988.3,ENST00000369358.4 |
| exon_skip_54148 | 10 | 115401123:115401231:115402692:115402797:115405583:115405700 | 115402692:115402797 | ENSG00000197893.9 | ENST00000359988.3,ENST00000369358.4 |
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 NRAP |
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 |
| ENST00000359988 | 115350336 | 115350648 | In-frame |
| ENST00000359988 | 115351952 | 115352060 | In-frame |
| ENST00000359988 | 115355381 | 115355486 | In-frame |
| ENST00000359988 | 115364367 | 115364679 | In-frame |
| ENST00000359988 | 115368172 | 115368271 | In-frame |
| ENST00000359988 | 115373941 | 115374055 | In-frame |
| ENST00000359988 | 115380362 | 115380467 | In-frame |
| ENST00000359988 | 115383287 | 115383395 | In-frame |
| ENST00000359988 | 115402692 | 115402797 | 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 |
| ENST00000359988 | 115350336 | 115350648 | In-frame |
| ENST00000359988 | 115351952 | 115352060 | In-frame |
| ENST00000359988 | 115355381 | 115355486 | In-frame |
| ENST00000359988 | 115364367 | 115364679 | In-frame |
| ENST00000359988 | 115368172 | 115368271 | In-frame |
| ENST00000359988 | 115373941 | 115374055 | In-frame |
| ENST00000359988 | 115380362 | 115380467 | In-frame |
| ENST00000359988 | 115383287 | 115383395 | In-frame |
| ENST00000359988 | 115402692 | 115402797 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NRAP |
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 |
| ENST00000359988 | 5597 | 1730 | 115402692 | 115402797 | 1356 | 1460 | 370 | 405 |
| ENST00000359988 | 5597 | 1730 | 115383287 | 115383395 | 2595 | 2702 | 783 | 819 |
| ENST00000359988 | 5597 | 1730 | 115380362 | 115380467 | 3015 | 3119 | 923 | 958 |
| ENST00000359988 | 5597 | 1730 | 115373941 | 115374055 | 3432 | 3545 | 1062 | 1100 |
| ENST00000359988 | 5597 | 1730 | 115368172 | 115368271 | 3849 | 3947 | 1201 | 1234 |
| ENST00000359988 | 5597 | 1730 | 115364367 | 115364679 | 4161 | 4472 | 1305 | 1409 |
| ENST00000359988 | 5597 | 1730 | 115355381 | 115355486 | 4677 | 4781 | 1477 | 1512 |
| ENST00000359988 | 5597 | 1730 | 115351952 | 115352060 | 4782 | 4889 | 1512 | 1548 |
| ENST00000359988 | 5597 | 1730 | 115350336 | 115350648 | 4890 | 5201 | 1548 | 1652 |
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 |
| ENST00000359988 | 5597 | 1730 | 115402692 | 115402797 | 1356 | 1460 | 370 | 405 |
| ENST00000359988 | 5597 | 1730 | 115383287 | 115383395 | 2595 | 2702 | 783 | 819 |
| ENST00000359988 | 5597 | 1730 | 115380362 | 115380467 | 3015 | 3119 | 923 | 958 |
| ENST00000359988 | 5597 | 1730 | 115373941 | 115374055 | 3432 | 3545 | 1062 | 1100 |
| ENST00000359988 | 5597 | 1730 | 115368172 | 115368271 | 3849 | 3947 | 1201 | 1234 |
| ENST00000359988 | 5597 | 1730 | 115364367 | 115364679 | 4161 | 4472 | 1305 | 1409 |
| ENST00000359988 | 5597 | 1730 | 115355381 | 115355486 | 4677 | 4781 | 1477 | 1512 |
| ENST00000359988 | 5597 | 1730 | 115351952 | 115352060 | 4782 | 4889 | 1512 | 1548 |
| ENST00000359988 | 5597 | 1730 | 115350336 | 115350648 | 4890 | 5201 | 1548 | 1652 |
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 NRAP |
- 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-DD-A1EG-01 | exon_skip_54135 | 115351953 | 115352060 | 115352030 | 115352030 | Frame_Shift_Del | G | - | p.R1531fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_54139 | 115364368 | 115364679 | 115364547 | 115364547 | Frame_Shift_Del | C | - | p.A1350fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_54139 | 115364368 | 115364679 | 115364641 | 115364641 | Frame_Shift_Del | T | - | p.K1326fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_54140 | 115368173 | 115368271 | 115368250 | 115368250 | Frame_Shift_Del | G | - | p.H1217fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_54140 | 115368173 | 115368271 | 115368250 | 115368250 | Frame_Shift_Del | G | - | p.H1217fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_54141 | 115373942 | 115374055 | 115374004 | 115374004 | Frame_Shift_Del | G | - | p.R1088fs |
| STAD | TCGA-BR-4201-01 | exon_skip_54146 | 115383288 | 115383395 | 115383370 | 115383370 | Frame_Shift_Del | T | - | p.N792fs |
| LUSC | TCGA-18-3410-01 | exon_skip_54134 | 115350337 | 115350648 | 115350345 | 115350345 | Nonsense_Mutation | G | A | p.Q1650* |
| COAD | TCGA-AD-6889-01 | exon_skip_54138 | 115355382 | 115355486 | 115355414 | 115355414 | Nonsense_Mutation | G | A | p.R1502X |
| PRAD | TCGA-YL-A8SJ-01 | exon_skip_54139 | 115364368 | 115364679 | 115364399 | 115364399 | Nonsense_Mutation | C | T | p.W1407* |
| CESC | TCGA-C5-A1BQ-01 | exon_skip_54139 | 115364368 | 115364679 | 115364418 | 115364418 | Nonsense_Mutation | C | A | p.E1401* |
| LUAD | TCGA-99-7458-01 | exon_skip_54141 | 115373942 | 115374055 | 115374047 | 115374047 | Nonsense_Mutation | G | T | p.Y1073* |
| STAD | TCGA-BR-8680-01 | exon_skip_54142 | 115380363 | 115380467 | 115380377 | 115380377 | Nonsense_Mutation | C | A | p.E954* |
| STAD | TCGA-BR-8680-01 | exon_skip_54142 | 115380363 | 115380467 | 115380377 | 115380377 | Nonsense_Mutation | C | A | p.E954X |
| UCS | TCGA-N5-A4R8-01 | exon_skip_54148 | 115402693 | 115402797 | 115402734 | 115402734 | Nonsense_Mutation | G | A | p.Q392* |
| UCS | TCGA-N5-A4R8-01 | exon_skip_54148 | 115402693 | 115402797 | 115402734 | 115402734 | Nonsense_Mutation | G | A | p.Q392X |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_54146 | 115383288 | 115383395 | 115383396 | 115383396 | Splice_Site | C | A | e23-1 |
- 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 |
| EN_ENDOMETRIUM | 115364368 | 115364679 | 115364546 | 115364547 | Frame_Shift_Ins | - | C | p.A1350fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 115373942 | 115374055 | 115374027 | 115374028 | Frame_Shift_Ins | - | T | p.M1072fs |
| NCIH1648_LUNG | 115355382 | 115355486 | 115355398 | 115355398 | Missense_Mutation | G | T | p.A1507E |
| A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 115355382 | 115355486 | 115355407 | 115355407 | Missense_Mutation | C | T | p.R1504H |
| ECC10_STOMACH | 115355382 | 115355486 | 115355407 | 115355407 | Missense_Mutation | C | T | p.R1504H |
| KON_UPPER_AERODIGESTIVE_TRACT | 115355382 | 115355486 | 115355407 | 115355407 | Missense_Mutation | C | T | p.R1504H |
| LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 115355382 | 115355486 | 115355407 | 115355407 | Missense_Mutation | C | T | p.R1504H |
| CAL78_BONE | 115355382 | 115355486 | 115355411 | 115355411 | Missense_Mutation | C | G | p.A1503P |
| NCIH1666_LUNG | 115364368 | 115364679 | 115364385 | 115364385 | Missense_Mutation | G | C | p.H1404D |
| KYSE140_OESOPHAGUS | 115364368 | 115364679 | 115364426 | 115364426 | Missense_Mutation | G | A | p.A1390V |
| DU145_PROSTATE | 115364368 | 115364679 | 115364521 | 115364521 | Missense_Mutation | A | T | p.H1358Q |
| FTC238_THYROID | 115364368 | 115364679 | 115364589 | 115364589 | Missense_Mutation | G | A | p.R1336C |
| NCIH1648_LUNG | 115364368 | 115364679 | 115364595 | 115364595 | Missense_Mutation | A | T | p.C1334S |
| YD8_UPPER_AERODIGESTIVE_TRACT | 115364368 | 115364679 | 115364602 | 115364602 | Missense_Mutation | G | C | p.I1331M |
| DU145_PROSTATE | 115364368 | 115364679 | 115364611 | 115364611 | Missense_Mutation | G | T | p.D1328E |
| COLO201_LARGE_INTESTINE | 115364368 | 115364679 | 115364619 | 115364619 | Missense_Mutation | T | C | p.R1326G |
| COLO205_LARGE_INTESTINE | 115364368 | 115364679 | 115364619 | 115364619 | Missense_Mutation | T | C | p.R1326G |
| BICR10_UPPER_AERODIGESTIVE_TRACT | 115364368 | 115364679 | 115364646 | 115364646 | Missense_Mutation | C | A | p.G1317W |
| JHUEM7_ENDOMETRIUM | 115368173 | 115368271 | 115368178 | 115368178 | Missense_Mutation | T | G | p.N1233H |
| MFE319_ENDOMETRIUM | 115368173 | 115368271 | 115368178 | 115368178 | Missense_Mutation | T | C | p.N1233D |
| SNU1040_LARGE_INTESTINE | 115368173 | 115368271 | 115368180 | 115368180 | Missense_Mutation | G | A | p.T1232M |
| HEC6_ENDOMETRIUM | 115368173 | 115368271 | 115368234 | 115368234 | Missense_Mutation | G | A | p.T1214I |
| MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 115368173 | 115368271 | 115368246 | 115368246 | Missense_Mutation | G | A | p.S1210L |
| NCIH2052_PLEURA | 115368173 | 115368271 | 115368249 | 115368249 | Missense_Mutation | T | G | p.H1209P |
| NCIH1694_LUNG | 115368173 | 115368271 | 115368256 | 115368256 | Missense_Mutation | G | C | p.H1207D |
| NCIH716_LARGE_INTESTINE | 115368173 | 115368271 | 115368256 | 115368256 | Missense_Mutation | G | C | p.H1207D |
| SW684_SOFT_TISSUE | 115373942 | 115374055 | 115373944 | 115373944 | Missense_Mutation | C | T | p.D1100N |
| SNUC5_LARGE_INTESTINE | 115373942 | 115374055 | 115373977 | 115373977 | Missense_Mutation | C | T | p.A1089T |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 115373942 | 115374055 | 115373995 | 115373995 | Missense_Mutation | C | T | p.E1083K |
| HEC6_ENDOMETRIUM | 115380363 | 115380467 | 115380428 | 115380428 | Missense_Mutation | C | A | p.G937C |
| BXPC3_PANCREAS | 115383288 | 115383395 | 115383316 | 115383316 | Missense_Mutation | G | C | p.A810G |
| NCIH226_LUNG | 115383288 | 115383395 | 115383340 | 115383340 | Missense_Mutation | A | G | p.L802P |
| HT55_LARGE_INTESTINE | 115364368 | 115364679 | 115364649 | 115364649 | Nonsense_Mutation | G | A | p.R1316* |
| COLO201_LARGE_INTESTINE | 115355382 | 115355486 | 115355486 | 115355486 | Splice_Site | G | A | p.R1478C |
| NCIH2731_PLEURA | 115355382 | 115355486 | 115355486 | 115355486 | Splice_Site | G | A | p.R1478C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NRAP |
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 NRAP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NRAP |
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RelatedDrugs for NRAP |
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 NRAP |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |