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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for RBM11 |
Gene summary |
Gene information | Gene symbol | RBM11 | Gene ID | 54033 |
Gene name | RNA binding motif protein 11 | |
Synonyms | - | |
Cytomap | 21q11.2 | |
Type of gene | protein-coding | |
Description | splicing regulator RBM11putative RNA-binding protein 11 | |
Modification date | 20180523 | |
UniProtAcc | P57052 | |
Context | PubMed: RBM11 [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 |
RBM11 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 21984414 |
RBM11 | GO:0034599 | cellular response to oxidative stress | 21984414 |
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Exon skipping events across known transcript of Ensembl for RBM11 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 RBM11 |
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 RBM11 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_358905 | 21 | 15588498:15588603:15591873:15592046:15593417:15593490 | 15591873:15592046 | ENSG00000185272.9 | ENST00000468788.1 |
exon_skip_358906 | 21 | 15588498:15588603:15591883:15592046:15593417:15593490 | 15591883:15592046 | ENSG00000185272.9 | ENST00000400577.3,ENST00000461088.1 |
exon_skip_358911 | 21 | 15593417:15593490:15596758:15596858:15599200:15599705 | 15596758:15596858 | ENSG00000185272.9 | ENST00000400577.3,ENST00000468643.1,ENST00000495055.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RBM11 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_358905 | 21 | 15588498:15588603:15591873:15592046:15593417:15593490 | 15591873:15592046 | ENSG00000185272.9 | ENST00000468788.1 |
exon_skip_358906 | 21 | 15588498:15588603:15591883:15592046:15593417:15593490 | 15591883:15592046 | ENSG00000185272.9 | ENST00000461088.1,ENST00000400577.3 |
exon_skip_358911 | 21 | 15593417:15593490:15596758:15596858:15599200:15599705 | 15596758:15596858 | ENSG00000185272.9 | ENST00000468643.1,ENST00000495055.1,ENST00000400577.3 |
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 RBM11 |
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 |
ENST00000400577 | 15591883 | 15592046 | Frame-shift |
ENST00000400577 | 15596758 | 15596858 | Frame-shift |
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 |
ENST00000400577 | 15591883 | 15592046 | Frame-shift |
ENST00000400577 | 15596758 | 15596858 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RBM11 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 RBM11 |
- 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. |
RBM11_CESC_exon_skip_358911_psi_boxplot.png |
- 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 |
SKCM | TCGA-D3-A3MU-06 | exon_skip_358911 | 15596759 | 15596858 | 15596777 | 15596777 | Frame_Shift_Del | G | - | p.V117fs |
PRAD | TCGA-VP-A87D-01 | exon_skip_358905 exon_skip_358906 | 15591874 | 15592046 | 15592040 | 15592040 | Nonsense_Mutation | C | T | p.R85* |
PRAD | TCGA-VP-A87D-01 | exon_skip_358905 exon_skip_358906 | 15591884 | 15592046 | 15592040 | 15592040 | Nonsense_Mutation | C | T | p.R85* |
SKCM | TCGA-FS-A1ZW-06 | exon_skip_358905 exon_skip_358906 | 15591874 | 15592046 | 15592040 | 15592040 | Nonsense_Mutation | C | T | p.R85* |
SKCM | TCGA-FS-A1ZW-06 | exon_skip_358905 exon_skip_358906 | 15591884 | 15592046 | 15592040 | 15592040 | Nonsense_Mutation | C | T | p.R85* |
CESC | TCGA-EK-A3GK-01 | exon_skip_358911 | 15596759 | 15596858 | 15596832 | 15596832 | Nonsense_Mutation | C | T | p.Q136* |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
NCIH838_LUNG | 15596759 | 15596858 | 15596777 | 15596777 | Frame_Shift_Del | G | - | p.V117fs |
HCC2998_LARGE_INTESTINE | 15591874 | 15592046 | 15591939 | 15591939 | Missense_Mutation | C | A | p.S51Y |
HCC2998_LARGE_INTESTINE | 15591884 | 15592046 | 15591939 | 15591939 | Missense_Mutation | C | A | p.S51Y |
MZ1PC_PANCREAS | 15591874 | 15592046 | 15591945 | 15591945 | Missense_Mutation | G | A | p.G53E |
MZ1PC_PANCREAS | 15591884 | 15592046 | 15591945 | 15591945 | Missense_Mutation | G | A | p.G53E |
TUHR14TKB_KIDNEY | 15591874 | 15592046 | 15591958 | 15591958 | Missense_Mutation | T | A | p.F57L |
TUHR14TKB_KIDNEY | 15591884 | 15592046 | 15591958 | 15591958 | Missense_Mutation | T | A | p.F57L |
SW684_SOFT_TISSUE | 15591874 | 15592046 | 15591972 | 15591972 | Missense_Mutation | C | T | p.S62L |
SW684_SOFT_TISSUE | 15591884 | 15592046 | 15591972 | 15591972 | Missense_Mutation | C | T | p.S62L |
SNU475_LIVER | 15591874 | 15592046 | 15592004 | 15592004 | Missense_Mutation | A | C | p.I73L |
SNU475_LIVER | 15591884 | 15592046 | 15592004 | 15592004 | Missense_Mutation | A | C | p.I73L |
CHLA32_BONE | 15591874 | 15592046 | 15592008 | 15592008 | Missense_Mutation | G | A | p.R74H |
CHLA32_BONE | 15591884 | 15592046 | 15592008 | 15592008 | Missense_Mutation | G | A | p.R74H |
HCT15_LARGE_INTESTINE | 15591874 | 15592046 | 15592037 | 15592037 | Missense_Mutation | T | C | p.Y84H |
HCT15_LARGE_INTESTINE | 15591884 | 15592046 | 15592037 | 15592037 | Missense_Mutation | T | C | p.Y84H |
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15591874 | 15592046 | 15592038 | 15592038 | Missense_Mutation | A | G | p.Y84C |
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15591884 | 15592046 | 15592038 | 15592038 | Missense_Mutation | A | G | p.Y84C |
SNU387_LIVER | 15596759 | 15596858 | 15596775 | 15596775 | Missense_Mutation | G | A | p.V117M |
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15591874 | 15592046 | 15591885 | 15591885 | Splice_Site | C | T | p.A33V |
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15591884 | 15592046 | 15591885 | 15591885 | Splice_Site | C | T | p.A33V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBM11 |
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 RBM11 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBM11 |
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RelatedDrugs for RBM11 |
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 RBM11 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |