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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 LRP6 |
 Gene summary |
| Gene information | Gene symbol | LRP6 | Gene ID | 4040 |
| Gene name | LDL receptor related protein 6 | |
| Synonyms | ADCAD2|STHAG7 | |
| Cytomap | 12p13.2 | |
| Type of gene | protein-coding | |
| Description | low-density lipoprotein receptor-related protein 6LRP-6 | |
| Modification date | 20180523 | |
| UniProtAcc | O75581 | |
| Context | PubMed: LRP6 [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 |
| LRP6 | GO:0014029 | neural crest formation | 11029007 |
| LRP6 | GO:0014033 | neural crest cell differentiation | 11029007 |
| LRP6 | GO:0016055 | Wnt signaling pathway | 11357136|16263759 |
| LRP6 | GO:0044332 | Wnt signaling pathway involved in dorsal/ventral axis specification | 11029007 |
| LRP6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12857724 |
| LRP6 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 14739301 |
| LRP6 | GO:0060070 | canonical Wnt signaling pathway | 12121999|14739301|16543246|17239604|20059949|20137080 |
| LRP6 | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 19107203 |
| LRP6 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 11448771|11742004|15271658|19107203|20093106 |
| LRP6 | GO:2000055 | positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification | 15908424 |
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Exon skipping events across known transcript of Ensembl for LRP6 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 LRP6 |
| 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 LRP6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90140 | 12 | 12278295:12278366:12279624:12279855:12283716:12283827 | 12279624:12279855 | ENSG00000070018.4 | ENST00000543091.1,ENST00000261349.4,ENST00000538239.1 |
| exon_skip_90141 | 12 | 12288108:12288234:12291258:12291468:12300299:12300490 | 12291258:12291468 | ENSG00000070018.4 | ENST00000543091.1,ENST00000261349.4,ENST00000538239.1 |
| exon_skip_90143 | 12 | 12315126:12315353:12317206:12317496:12318012:12318229 | 12317206:12317496 | ENSG00000070018.4 | ENST00000543091.1,ENST00000261349.4,ENST00000538239.1 |
| exon_skip_90146 | 12 | 12340021:12340053:12356136:12356334:12397195:12397238 | 12356136:12356334 | ENSG00000070018.4 | ENST00000543091.1,ENST00000261349.4,ENST00000538239.1 |
| exon_skip_90147 | 12 | 12356136:12356334:12397195:12397589:12419614:12419703 | 12397195:12397589 | ENSG00000070018.4 | ENST00000543091.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRP6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90141 | 12 | 12288108:12288234:12291258:12291468:12300299:12300490 | 12291258:12291468 | ENSG00000070018.4 | ENST00000261349.4,ENST00000538239.1,ENST00000543091.1 |
| exon_skip_90143 | 12 | 12315126:12315353:12317206:12317496:12318012:12318229 | 12317206:12317496 | ENSG00000070018.4 | ENST00000261349.4,ENST00000538239.1,ENST00000543091.1 |
| exon_skip_90146 | 12 | 12340021:12340053:12356136:12356334:12397195:12397238 | 12356136:12356334 | ENSG00000070018.4 | ENST00000261349.4,ENST00000538239.1,ENST00000543091.1 |
| exon_skip_90147 | 12 | 12356136:12356334:12397195:12397589:12419614:12419703 | 12397195:12397589 | ENSG00000070018.4 | ENST00000543091.1 |
| 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 LRP6 |
| 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 LRP6 |
| 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 LRP6 |
| - 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-A1EG-01 | exon_skip_90147 | 12397196 | 12397589 | 12397499 | 12397499 | Frame_Shift_Del | C | - | p.G49fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_90147 | 12397196 | 12397589 | 12397538 | 12397538 | Frame_Shift_Del | G | - | p.A36fs |
| CESC | TCGA-C5-A1MK-01 | exon_skip_90141 | 12291259 | 12291468 | 12291357 | 12291358 | Frame_Shift_Ins | - | T | p.*1170fs |
| CESC | TCGA-C5-A1MK-01 | exon_skip_90141 | 12291259 | 12291468 | 12291357 | 12291358 | Frame_Shift_Ins | - | T | p.I1170fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_90147 | 12397196 | 12397589 | 12397280 | 12397281 | Frame_Shift_Ins | - | A | p.*122fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_90147 | 12397196 | 12397589 | 12397478 | 12397479 | Frame_Shift_Ins | - | C | p.V56fs |
| UCEC | TCGA-D1-A0ZS-01 | exon_skip_90141 | 12291259 | 12291468 | 12291316 | 12291316 | Nonsense_Mutation | G | A | p.R1184* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_90143 | 12317207 | 12317496 | 12317329 | 12317329 | Nonsense_Mutation | G | A | p.R644* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_90143 | 12317207 | 12317496 | 12317329 | 12317329 | Nonsense_Mutation | G | A | p.R644X |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_90147 | 12397196 | 12397589 | 12397410 | 12397410 | Nonsense_Mutation | C | A | p.E79* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_90147 | 12397196 | 12397589 | 12397410 | 12397410 | Nonsense_Mutation | C | A | p.E79* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_90147 | 12397196 | 12397589 | 12397551 | 12397551 | Nonsense_Mutation | G | A | p.R32* |
| - 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 |
| HCT116_LARGE_INTESTINE | 12279625 | 12279855 | 12279643 | 12279643 | Missense_Mutation | A | T | p.L1432M |
| NCIH345_LUNG | 12291259 | 12291468 | 12291402 | 12291402 | Missense_Mutation | T | G | p.N1155T |
| HCC33_LUNG | 12291259 | 12291468 | 12291434 | 12291434 | Missense_Mutation | G | C | p.I1144M |
| ES2_OVARY | 12317207 | 12317496 | 12317272 | 12317272 | Missense_Mutation | C | T | p.E663K |
| SKN_ENDOMETRIUM | 12317207 | 12317496 | 12317413 | 12317413 | Missense_Mutation | T | C | p.I616V |
| SKPNDW_BONE | 12356137 | 12356334 | 12356170 | 12356170 | Missense_Mutation | A | G | p.F205S |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12356137 | 12356334 | 12356243 | 12356243 | Missense_Mutation | T | A | p.I181F |
| EFO27_OVARY | 12356137 | 12356334 | 12356291 | 12356291 | Missense_Mutation | G | A | p.R165C |
| NCIH513_PLEURA | 12356137 | 12356334 | 12356330 | 12356330 | Missense_Mutation | T | A | p.M152L |
| VMCUB1_URINARY_TRACT | 12397196 | 12397589 | 12397239 | 12397239 | Missense_Mutation | C | G | p.E136Q |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12397196 | 12397589 | 12397290 | 12397290 | Missense_Mutation | T | C | p.I119V |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12397196 | 12397589 | 12397318 | 12397318 | Missense_Mutation | C | A | p.L109F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12397196 | 12397589 | 12397397 | 12397397 | Missense_Mutation | G | C | p.T83S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 12397196 | 12397589 | 12397464 | 12397464 | Missense_Mutation | T | C | p.S61G |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12397196 | 12397589 | 12397464 | 12397464 | Missense_Mutation | T | C | p.S61G |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12397196 | 12397589 | 12397464 | 12397464 | Missense_Mutation | T | C | p.S61G |
| WM1552C_SKIN | 12397196 | 12397589 | 12397502 | 12397502 | Missense_Mutation | C | A | p.G48V |
| HRT18_LARGE_INTESTINE | 12397196 | 12397589 | 12397509 | 12397509 | Missense_Mutation | C | T | p.V46I |
| RCM1_LARGE_INTESTINE | 12397196 | 12397589 | 12397518 | 12397518 | Missense_Mutation | C | T | p.A43T |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 12397196 | 12397589 | 12397560 | 12397560 | Missense_Mutation | G | A | p.R29W |
| JHU028_LUNG | 12397196 | 12397589 | 12397562 | 12397562 | Missense_Mutation | C | A | p.R28I |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12317207 | 12317496 | 12317329 | 12317329 | Nonsense_Mutation | G | A | p.R644* |
| U2OS_BONE | 12356137 | 12356334 | 12356138 | 12356138 | Splice_Site | G | T | p.R216R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRP6 |
| 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 LRP6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRP6 |
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RelatedDrugs for LRP6 |
| 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 LRP6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LRP6 | C1970440 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder) | 2 | CTD_human;UNIPROT |
| LRP6 | C4225231 | TOOTH AGENESIS, SELECTIVE, 7 | 1 | UNIPROT |
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