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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 LRP3 |
Gene summary |
Gene information | Gene symbol | LRP3 | Gene ID | 4037 |
Gene name | LDL receptor related protein 3 | |
Synonyms | - | |
Cytomap | 19q13.11 | |
Type of gene | protein-coding | |
Description | low-density lipoprotein receptor-related protein 3105 kDa low-density lipoprotein receptor-related proteinCTD-2540B15.13LRP-3hLRp105 | |
Modification date | 20180519 | |
UniProtAcc | O75074 | |
Context | PubMed: LRP3 [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 LRP3 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 LRP3 |
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 LRP3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_304847 | 19 | 33687641:33687683:33693753:33693892:33695543:33695758 | 33693753:33693892 | ENSG00000130881.9 | ENST00000590275.1,ENST00000253193.7,ENST00000592484.1 |
exon_skip_304851 | 19 | 33693753:33693892:33695543:33695758:33696151:33696197 | 33695543:33695758 | ENSG00000130881.9 | ENST00000253193.7,ENST00000592484.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRP3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_304847 | 19 | 33687641:33687683:33693753:33693892:33695543:33695758 | 33693753:33693892 | ENSG00000130881.9 | ENST00000592484.1,ENST00000253193.7,ENST00000590275.1 |
exon_skip_304851 | 19 | 33693753:33693892:33695543:33695758:33696151:33696197 | 33695543:33695758 | ENSG00000130881.9 | ENST00000592484.1,ENST00000253193.7 |
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 LRP3 |
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 |
ENST00000253193 | 33693753 | 33693892 | Frame-shift |
ENST00000253193 | 33695543 | 33695758 | 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 |
ENST00000253193 | 33693753 | 33693892 | Frame-shift |
ENST00000253193 | 33695543 | 33695758 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for LRP3 |
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 LRP3 |
- 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-BC-A3KG-01 | exon_skip_304851 | 33695544 | 33695758 | 33695655 | 33695655 | Frame_Shift_Del | C | - | p.I124fs |
BRCA | TCGA-BH-A0HW-01 | exon_skip_304851 | 33695544 | 33695758 | 33695733 | 33695733 | Frame_Shift_Del | G | - | p.G151fs |
- 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 |
ASPC1_PANCREAS | 33693754 | 33693892 | 33693832 | 33693832 | Missense_Mutation | C | T | p.P67L |
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33693754 | 33693892 | 33693835 | 33693835 | Missense_Mutation | C | T | p.P68L |
NCIH1155_LUNG | 33693754 | 33693892 | 33693877 | 33693877 | Missense_Mutation | A | G | p.D82G |
LN215_CENTRAL_NERVOUS_SYSTEM | 33695544 | 33695758 | 33695650 | 33695650 | Missense_Mutation | G | A | p.A123T |
A172_CENTRAL_NERVOUS_SYSTEM | 33695544 | 33695758 | 33695650 | 33695650 | Missense_Mutation | G | A | p.A123T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRP3 |
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 LRP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRP3 |
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RelatedDrugs for LRP3 |
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 LRP3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |