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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 NRM |
 Gene summary |
| Gene information | Gene symbol | NRM | Gene ID | 11270 |
| Gene name | nurim | |
| Synonyms | NRM29 | |
| Cytomap | 6p21.33 | |
| Type of gene | protein-coding | |
| Description | nurimnuclear rim proteinnurim (nuclear envelope membrane protein) | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IXM6 | |
| Context | PubMed: NRM [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 NRM 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 NRM |
| 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 NRM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_457102 | 6 | 30655828:30656719:30657052:30657229:30657801:30658020 | 30657052:30657229 | ENSG00000137404.10 | ENST00000470733.1 |
| exon_skip_457103 | 6 | 30655828:30656719:30657052:30657229:30657823:30658020 | 30657052:30657229 | ENSG00000137404.10 | ENST00000376421.5,ENST00000444096.1,ENST00000259953.4 |
| exon_skip_457107 | 6 | 30655828:30656719:30657052:30657229:30658618:30658744 | 30657052:30657229 | ENSG00000137404.10 | ENST00000482141.1 |
| exon_skip_457111 | 6 | 30655828:30656719:30657801:30658020:30658618:30658744 | 30657801:30658020 | ENSG00000137404.10 | ENST00000462857.1 |
| exon_skip_457115 | 6 | 30655828:30656719:30657823:30658020:30658618:30658744 | 30657823:30658020 | ENSG00000137404.10 | ENST00000376420.5 |
| exon_skip_457125 | 6 | 30657052:30657229:30657801:30658020:30658618:30658744 | 30657801:30658020 | ENSG00000137404.10 | ENST00000470733.1 |
| exon_skip_457129 | 6 | 30657052:30657229:30657823:30658020:30658618:30658744 | 30657823:30658020 | ENSG00000137404.10 | ENST00000376421.5,ENST00000259953.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NRM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_457102 | 6 | 30655828:30656719:30657052:30657229:30657801:30658020 | 30657052:30657229 | ENSG00000137404.10 | ENST00000470733.1 |
| exon_skip_457103 | 6 | 30655828:30656719:30657052:30657229:30657823:30658020 | 30657052:30657229 | ENSG00000137404.10 | ENST00000444096.1,ENST00000259953.4,ENST00000376421.5 |
| exon_skip_457107 | 6 | 30655828:30656719:30657052:30657229:30658618:30658744 | 30657052:30657229 | ENSG00000137404.10 | ENST00000482141.1 |
| exon_skip_457111 | 6 | 30655828:30656719:30657801:30658020:30658618:30658744 | 30657801:30658020 | ENSG00000137404.10 | ENST00000462857.1 |
| exon_skip_457115 | 6 | 30655828:30656719:30657823:30658020:30658618:30658744 | 30657823:30658020 | ENSG00000137404.10 | ENST00000376420.5 |
| exon_skip_457125 | 6 | 30657052:30657229:30657801:30658020:30658618:30658744 | 30657801:30658020 | ENSG00000137404.10 | ENST00000470733.1 |
| exon_skip_457129 | 6 | 30657052:30657229:30657823:30658020:30658618:30658744 | 30657823:30658020 | ENSG00000137404.10 | ENST00000259953.4,ENST00000376421.5 |
| 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 NRM |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for NRM |
| 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 NRM |
| - 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 |
| LUAD | TCGA-91-6836-01 | exon_skip_457103 exon_skip_457102 exon_skip_457107 | 30657053 | 30657229 | 30657172 | 30657172 | Frame_Shift_Del | C | - | p.A130fs |
| PCPG | TCGA-SP-A6QF-01 | exon_skip_457103 exon_skip_457102 exon_skip_457107 | 30657053 | 30657229 | 30657192 | 30657192 | Frame_Shift_Del | G | - | p.P123fs |
| BLCA | TCGA-ZF-AA4W-01 | exon_skip_457125 exon_skip_457129 exon_skip_457115 exon_skip_457111 | 30657802 | 30658020 | 30657966 | 30657967 | Frame_Shift_Ins | - | G | p.L63fs |
| BLCA | TCGA-ZF-AA4W-01 | exon_skip_457125 exon_skip_457129 exon_skip_457115 exon_skip_457111 | 30657824 | 30658020 | 30657966 | 30657967 | Frame_Shift_Ins | - | G | p.L63fs |
| COAD | TCGA-AD-6889-01 | exon_skip_457125 exon_skip_457129 exon_skip_457115 exon_skip_457111 | 30657802 | 30658020 | 30657966 | 30657967 | Frame_Shift_Ins | - | G | p.L63fs |
| COAD | TCGA-AD-6889-01 | exon_skip_457125 exon_skip_457129 exon_skip_457115 exon_skip_457111 | 30657824 | 30658020 | 30657966 | 30657967 | Frame_Shift_Ins | - | G | p.L63fs |
| COAD | TCGA-AU-6004-01 | exon_skip_457125 exon_skip_457129 exon_skip_457115 exon_skip_457111 | 30657802 | 30658020 | 30657966 | 30657967 | Frame_Shift_Ins | - | G | p.L63fs |
| COAD | TCGA-AU-6004-01 | exon_skip_457125 exon_skip_457129 exon_skip_457115 exon_skip_457111 | 30657824 | 30658020 | 30657966 | 30657967 | Frame_Shift_Ins | - | G | p.L63fs |
| LUAD | TCGA-91-8499-01 | exon_skip_457125 exon_skip_457129 exon_skip_457115 exon_skip_457111 | 30657802 | 30658020 | 30657966 | 30657967 | Frame_Shift_Ins | - | G | p.G63fs |
| LUAD | TCGA-91-8499-01 | exon_skip_457125 exon_skip_457129 exon_skip_457115 exon_skip_457111 | 30657824 | 30658020 | 30657966 | 30657967 | Frame_Shift_Ins | - | G | p.G63fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-91-8499-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_457111 | |
| Skipped exon start: 30657802 | |
| Skipped exon end: 30658020 | |
| Mutation start: 30657966 | |
| Mutation end: 30657967 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G63fs | |
| Sample: TCGA-91-8499-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_457111 | |
| Skipped exon start: 30657824 | |
| Skipped exon end: 30658020 | |
| Mutation start: 30657966 | |
| Mutation end: 30657967 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G63fs | |
exon_skip_302901_LUAD_TCGA-91-8499-01.png | |
exon_skip_30610_LUAD_TCGA-91-8499-01.png | |
exon_skip_457111_LUAD_TCGA-91-8499-01.png | |
exon_skip_457115_LUAD_TCGA-91-8499-01.png | |
exon_skip_61768_LUAD_TCGA-91-8499-01.png | |
 | Sample: TCGA-91-8499-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_457111 | |
| Skipped exon start: 30657802 | |
| Skipped exon end: 30658020 | |
| Mutation start: 30657966 | |
| Mutation end: 30657967 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G63fs | |
| Sample: TCGA-91-8499-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_457111 | |
| Skipped exon start: 30657824 | |
| Skipped exon end: 30658020 | |
| Mutation start: 30657966 | |
| Mutation end: 30657967 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G63fs | |
| exon_skip_302901_LUAD_TCGA-91-8499-01.png | |
| exon_skip_30610_LUAD_TCGA-91-8499-01.png | |
| exon_skip_457111_LUAD_TCGA-91-8499-01.png | |
| exon_skip_457115_LUAD_TCGA-91-8499-01.png | |
| exon_skip_61768_LUAD_TCGA-91-8499-01.png | |
| - 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 |
| TOV21G_OVARY | 30657802 | 30658020 | 30657967 | 30657967 | Frame_Shift_Del | G | - | p.L63fs |
| TOV21G_OVARY | 30657824 | 30658020 | 30657967 | 30657967 | Frame_Shift_Del | G | - | p.L63fs |
| NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30657053 | 30657229 | 30657070 | 30657070 | Missense_Mutation | G | T | p.L164I |
| HEC1_ENDOMETRIUM | 30657053 | 30657229 | 30657099 | 30657099 | Missense_Mutation | C | T | p.S154N |
| MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30657053 | 30657229 | 30657184 | 30657184 | Missense_Mutation | A | G | p.W126R |
| HCC2998_LARGE_INTESTINE | 30657802 | 30658020 | 30657905 | 30657905 | Missense_Mutation | T | G | p.E83D |
| HCC2998_LARGE_INTESTINE | 30657824 | 30658020 | 30657905 | 30657905 | Missense_Mutation | T | G | p.E83D |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30657802 | 30658020 | 30657918 | 30657918 | Missense_Mutation | A | G | p.L79P |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30657824 | 30658020 | 30657918 | 30657918 | Missense_Mutation | A | G | p.L79P |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30657802 | 30658020 | 30657973 | 30657973 | Missense_Mutation | C | T | p.A61T |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30657824 | 30658020 | 30657973 | 30657973 | Missense_Mutation | C | T | p.A61T |
| HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30657053 | 30657229 | 30657114 | 30657114 | Nonsense_Mutation | C | T | p.W149* |
| PLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30657053 | 30657229 | 30657114 | 30657114 | Nonsense_Mutation | C | T | p.W149* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NRM |
| 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 NRM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NRM |
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RelatedDrugs for NRM |
| 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 NRM |
| 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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