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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 RELB |
 Gene summary |
| Gene information | Gene symbol | RELB | Gene ID | 5971 |
| Gene name | RELB proto-oncogene, NF-kB subunit | |
| Synonyms | I-REL|IMD53|IREL|REL-B | |
| Cytomap | 19q13.32 | |
| Type of gene | protein-coding | |
| Description | transcription factor RelBv-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gen | |
| Modification date | 20180523 | |
| UniProtAcc | Q01201 | |
| Context | PubMed: RELB [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 RELB 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 RELB |
| 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 RELB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308305 | 19 | 45506206:45506254:45511715:45511979:45513071:45513080 | 45511715:45511979 | ENSG00000104856.9 | ENST00000509480.1 |
| exon_skip_308306 | 19 | 45506206:45506254:45513071:45513080:45515193:45515487 | 45513071:45513080 | ENSG00000104856.9 | ENST00000221452.8 |
| exon_skip_308307 | 19 | 45515193:45515534:45525310:45525468:45528586:45528678 | 45525310:45525468 | ENSG00000104856.9 | ENST00000221452.8,ENST00000505236.1,ENST00000540120.1 |
| exon_skip_308313 | 19 | 45528586:45528678:45528863:45528995:45532145:45532250 | 45528863:45528995 | ENSG00000104856.9 | ENST00000221452.8,ENST00000505236.1,ENST00000540120.1 |
| exon_skip_308315 | 19 | 45532145:45532250:45535791:45536007:45537501:45537570 | 45535791:45536007 | ENSG00000104856.9 | ENST00000221452.8,ENST00000505236.1,ENST00000540120.1 |
| exon_skip_308324 | 19 | 45535965:45536007:45537501:45537786:45540662:45540826 | 45537501:45537786 | ENSG00000104856.9 | ENST00000509229.1 |
| exon_skip_308327 | 19 | 45537501:45537570:45537708:45537786:45540662:45540826 | 45537708:45537786 | ENSG00000104856.9 | ENST00000221452.8,ENST00000505236.1,ENST00000540120.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RELB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308305 | 19 | 45506206:45506254:45511715:45511979:45513071:45513080 | 45511715:45511979 | ENSG00000104856.9 | ENST00000509480.1 |
| exon_skip_308306 | 19 | 45506206:45506254:45513071:45513080:45515193:45515487 | 45513071:45513080 | ENSG00000104856.9 | ENST00000221452.8 |
| exon_skip_308307 | 19 | 45515193:45515534:45525310:45525468:45528586:45528678 | 45525310:45525468 | ENSG00000104856.9 | ENST00000221452.8,ENST00000540120.1,ENST00000505236.1 |
| exon_skip_308313 | 19 | 45528586:45528678:45528863:45528995:45532145:45532250 | 45528863:45528995 | ENSG00000104856.9 | ENST00000221452.8,ENST00000540120.1,ENST00000505236.1 |
| exon_skip_308315 | 19 | 45532145:45532250:45535791:45536007:45537501:45537570 | 45535791:45536007 | ENSG00000104856.9 | ENST00000221452.8,ENST00000540120.1,ENST00000505236.1 |
| exon_skip_308324 | 19 | 45535965:45536007:45537501:45537786:45540662:45540826 | 45537501:45537786 | ENSG00000104856.9 | ENST00000509229.1 |
| exon_skip_308327 | 19 | 45537501:45537570:45537708:45537786:45540662:45540826 | 45537708:45537786 | ENSG00000104856.9 | ENST00000221452.8,ENST00000540120.1,ENST00000505236.1 |
| 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 RELB |
| 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 |
| ENST00000221452 | 45525310 | 45525468 | Frame-shift |
| ENST00000221452 | 45513071 | 45513080 | In-frame |
| ENST00000221452 | 45528863 | 45528995 | In-frame |
| ENST00000221452 | 45535791 | 45536007 | In-frame |
| ENST00000221452 | 45537708 | 45537786 | 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 |
| ENST00000221452 | 45525310 | 45525468 | Frame-shift |
| ENST00000221452 | 45513071 | 45513080 | In-frame |
| ENST00000221452 | 45528863 | 45528995 | In-frame |
| ENST00000221452 | 45535791 | 45536007 | In-frame |
| ENST00000221452 | 45537708 | 45537786 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RELB |
| 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 |
| ENST00000221452 | 2311 | 579 | 45528863 | 45528995 | 905 | 1036 | 251 | 295 |
| ENST00000221452 | 2311 | 579 | 45535791 | 45536007 | 1142 | 1357 | 330 | 402 |
| ENST00000221452 | 2311 | 579 | 45537708 | 45537786 | 1427 | 1504 | 425 | 451 |
| 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 |
| ENST00000221452 | 2311 | 579 | 45528863 | 45528995 | 905 | 1036 | 251 | 295 |
| ENST00000221452 | 2311 | 579 | 45535791 | 45536007 | 1142 | 1357 | 330 | 402 |
| ENST00000221452 | 2311 | 579 | 45537708 | 45537786 | 1427 | 1504 | 425 | 451 |
| 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 |
| Q01201 | 251 | 295 | 1 | 579 | Chain | ID=PRO_0000205173;Note=Transcription factor RelB |
| Q01201 | 251 | 295 | 125 | 440 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q01201 | 330 | 402 | 1 | 579 | Chain | ID=PRO_0000205173;Note=Transcription factor RelB |
| Q01201 | 330 | 402 | 125 | 440 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q01201 | 330 | 402 | 396 | 396 | Natural variant | ID=VAR_051782;Note=T->M;Dbxref=dbSNP:rs2230682 |
| Q01201 | 330 | 402 | 397 | 579 | Natural variant | ID=VAR_079201;Note=In IMD53. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26385063;Dbxref=PMID:26385063 |
| Q01201 | 425 | 451 | 1 | 579 | Chain | ID=PRO_0000205173;Note=Transcription factor RelB |
| Q01201 | 425 | 451 | 125 | 440 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q01201 | 425 | 451 | 433 | 438 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q01201 | 425 | 451 | 397 | 579 | Natural variant | ID=VAR_079201;Note=In IMD53. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26385063;Dbxref=PMID:26385063 |
| 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 |
| Q01201 | 251 | 295 | 1 | 579 | Chain | ID=PRO_0000205173;Note=Transcription factor RelB |
| Q01201 | 251 | 295 | 125 | 440 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q01201 | 330 | 402 | 1 | 579 | Chain | ID=PRO_0000205173;Note=Transcription factor RelB |
| Q01201 | 330 | 402 | 125 | 440 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q01201 | 330 | 402 | 396 | 396 | Natural variant | ID=VAR_051782;Note=T->M;Dbxref=dbSNP:rs2230682 |
| Q01201 | 330 | 402 | 397 | 579 | Natural variant | ID=VAR_079201;Note=In IMD53. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26385063;Dbxref=PMID:26385063 |
| Q01201 | 425 | 451 | 1 | 579 | Chain | ID=PRO_0000205173;Note=Transcription factor RelB |
| Q01201 | 425 | 451 | 125 | 440 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q01201 | 425 | 451 | 433 | 438 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q01201 | 425 | 451 | 397 | 579 | Natural variant | ID=VAR_079201;Note=In IMD53. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26385063;Dbxref=PMID:26385063 |
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SNVs in the skipped exons for RELB |
| - 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-A3A0-01 | exon_skip_308307 | 45525311 | 45525468 | 45525326 | 45525326 | Frame_Shift_Del | G | - | p.G174fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_308315 | 45535792 | 45536007 | 45535893 | 45535893 | Frame_Shift_Del | C | - | p.P365fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_308307 | 45525311 | 45525468 | 45525373 | 45525373 | Nonsense_Mutation | G | A | p.W189* |
| STAD | TCGA-BR-8372-01 | exon_skip_308313 | 45528864 | 45528995 | 45528941 | 45528941 | Nonsense_Mutation | C | T | p.Q278* |
| STAD | TCGA-B7-5816-01 | exon_skip_308307 | 45525311 | 45525468 | 45525310 | 45525310 | Splice_Site | G | A | p.L169_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 |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 45525311 | 45525468 | 45525317 | 45525317 | Missense_Mutation | G | A | p.D171N |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45525311 | 45525468 | 45525332 | 45525332 | Missense_Mutation | C | T | p.R176W |
| SKUT1_SOFT_TISSUE | 45525311 | 45525468 | 45525332 | 45525332 | Missense_Mutation | C | T | p.R176W |
| CW2_LARGE_INTESTINE | 45525311 | 45525468 | 45525332 | 45525332 | Missense_Mutation | C | T | p.R176W |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45525311 | 45525468 | 45525332 | 45525332 | Missense_Mutation | C | T | p.R176W |
| SNU1040_LARGE_INTESTINE | 45528864 | 45528995 | 45528869 | 45528869 | Missense_Mutation | T | C | p.S254P |
| NCIH446_LUNG | 45528864 | 45528995 | 45528905 | 45528905 | Missense_Mutation | G | T | p.V266L |
| RXF393_KIDNEY | 45528864 | 45528995 | 45528956 | 45528956 | Missense_Mutation | C | T | p.R283W |
| HEC108_ENDOMETRIUM | 45528864 | 45528995 | 45528966 | 45528966 | Missense_Mutation | C | A | p.P286H |
| KYSE140_OESOPHAGUS | 45528864 | 45528995 | 45528981 | 45528981 | Missense_Mutation | C | T | p.P291L |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45535792 | 45536007 | 45535798 | 45535798 | Missense_Mutation | T | C | p.I333T |
| CCK81_LARGE_INTESTINE | 45535792 | 45536007 | 45535888 | 45535888 | Missense_Mutation | C | T | p.T363M |
| CORL24_LUNG | 45535792 | 45536007 | 45535913 | 45535914 | Missense_Mutation | TG | AT | p.V372F |
| CORL24_LUNG | 45535792 | 45536007 | 45535914 | 45535914 | Missense_Mutation | G | T | p.V372F |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45535792 | 45536007 | 45535989 | 45535989 | Missense_Mutation | T | A | p.Y397N |
| HCT15_LARGE_INTESTINE | 45535792 | 45536007 | 45535995 | 45535995 | Missense_Mutation | C | T | p.P399S |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45535792 | 45536007 | 45535998 | 45535998 | Missense_Mutation | C | T | p.R400C |
| CL11_LARGE_INTESTINE | 45535792 | 45536007 | 45535999 | 45535999 | Missense_Mutation | G | A | p.R400H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RELB |
| 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 RELB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RELB |
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RelatedDrugs for RELB |
| 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 RELB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RELB | C0018843 | Heat Stroke | 1 | CTD_human |
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