|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for LARGE1 |
 Gene summary |
| Gene information | Gene symbol | LARGE1 | Gene ID | 9215 |
| Gene name | LARGE xylosyl- and glucuronyltransferase 1 | |
| Synonyms | LARGE|MDC1D|MDDGA6|MDDGB6 | |
| Cytomap | 22q12.3 | |
| Type of gene | protein-coding | |
| Description | LARGE xylosyl- and glucuronyltransferase 1acetylglucosaminyltransferase-like 1Aacetylglucosaminyltransferase-like proteinglycosyltransferase-like protein LARGE1 | |
| Modification date | 20200328 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| LARGE1 | GO:0035269 | protein O-linked mannosylation | 22223806|25138275|25279697|25279699 |
Top |
Gene structures and expression levels for LARGE1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
 |
ENSG00000133424
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for LARGE1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_16314 | chr22 | 33304229:33304507:33316085:33316248:33337646:33337801 | 33316085:33316248 |
| exon_skip_167074 | chr22 | 33316085:33316248:33337646:33337801:33381919:33382044 | 33337646:33337801 |
| exon_skip_167282 | chr22 | 33761371:33761558:33856740:33856802:33919995:33920414 | 33856740:33856802 |
| exon_skip_17099 | chr22 | 33277060:33277255:33283202:33283348:33304229:33304507 | 33283202:33283348 |
| exon_skip_180310 | chr22 | 33166636:33166832:33283202:33283348:33304229:33304507 | 33283202:33283348 |
| exon_skip_200146 | chr22 | 33761371:33761558:33856740:33856802:33873108:33873387 | 33856740:33856802 |
| exon_skip_222866 | chr22 | 33273089:33274624:33277060:33277255:33283202:33283348 | 33277060:33277255 |
| exon_skip_238137 | chr22 | 33604435:33604558:33626244:33626326:33650367:33650668 | 33626244:33626326 |
| exon_skip_275368 | chr22 | 33316085:33316248:33337646:33337801:33381919:33381996 | 33337646:33337801 |
| exon_skip_30480 | chr22 | 33761371:33761558:33856740:33856802:33919995:33920007 | 33856740:33856802 |
| exon_skip_37556 | chr22 | 33283202:33283348:33304229:33304507:33316085:33316248 | 33304229:33304507 |
| exon_skip_42248 | chr22 | 33761371:33761558:33856740:33856802:33922621:33922841 | 33856740:33856802 |
| exon_skip_43112 | chr22 | 33564848:33565019:33604435:33604558:33626244:33626326 | 33604435:33604558 |
| exon_skip_70118 | chr22 | 33337769:33337801:33381919:33382044:33384192:33384227 | 33381919:33382044 |
| exon_skip_98658 | chr22 | 33283202:33283348:33304229:33304507:33316085:33316242 | 33304229:33304507 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for LARGE1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000354992 | 33856740 | 33856802 | 3UTR-3UTR |
| ENST00000354992 | 33316085 | 33316248 | Frame-shift |
| ENST00000397394 | 33316085 | 33316248 | Frame-shift |
| ENST00000354992 | 33604435 | 33604558 | Frame-shift |
| ENST00000397394 | 33604435 | 33604558 | Frame-shift |
| ENST00000354992 | 33626244 | 33626326 | Frame-shift |
| ENST00000397394 | 33626244 | 33626326 | Frame-shift |
| ENST00000354992 | 33283202 | 33283348 | In-frame |
| ENST00000397394 | 33283202 | 33283348 | In-frame |
| ENST00000354992 | 33304229 | 33304507 | In-frame |
| ENST00000397394 | 33304229 | 33304507 | In-frame |
| ENST00000354992 | 33337646 | 33337801 | In-frame |
| ENST00000397394 | 33337646 | 33337801 | In-frame |
| ENST00000354992 | 33381919 | 33382044 | In-frame |
| ENST00000397394 | 33381919 | 33382044 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000354992 | 33856740 | 33856802 | 3UTR-3UTR |
| ENST00000354992 | 33316085 | 33316248 | Frame-shift |
| ENST00000397394 | 33316085 | 33316248 | Frame-shift |
| ENST00000354992 | 33604435 | 33604558 | Frame-shift |
| ENST00000397394 | 33604435 | 33604558 | Frame-shift |
| ENST00000354992 | 33626244 | 33626326 | Frame-shift |
| ENST00000397394 | 33626244 | 33626326 | Frame-shift |
| ENST00000354992 | 33283202 | 33283348 | In-frame |
| ENST00000397394 | 33283202 | 33283348 | In-frame |
| ENST00000354992 | 33304229 | 33304507 | In-frame |
| ENST00000397394 | 33304229 | 33304507 | In-frame |
| ENST00000354992 | 33381919 | 33382044 | In-frame |
| ENST00000397394 | 33381919 | 33382044 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000354992 | 33856740 | 33856802 | 3UTR-3UTR |
| ENST00000354992 | 33277060 | 33277255 | Frame-shift |
| ENST00000397394 | 33277060 | 33277255 | Frame-shift |
| ENST00000354992 | 33316085 | 33316248 | Frame-shift |
| ENST00000397394 | 33316085 | 33316248 | Frame-shift |
| ENST00000354992 | 33604435 | 33604558 | Frame-shift |
| ENST00000397394 | 33604435 | 33604558 | Frame-shift |
| ENST00000354992 | 33626244 | 33626326 | Frame-shift |
| ENST00000397394 | 33626244 | 33626326 | Frame-shift |
| ENST00000354992 | 33283202 | 33283348 | In-frame |
| ENST00000397394 | 33283202 | 33283348 | In-frame |
| ENST00000354992 | 33304229 | 33304507 | In-frame |
| ENST00000397394 | 33304229 | 33304507 | In-frame |
| ENST00000354992 | 33337646 | 33337801 | In-frame |
| ENST00000397394 | 33337646 | 33337801 | In-frame |
| ENST00000354992 | 33381919 | 33382044 | In-frame |
| ENST00000397394 | 33381919 | 33382044 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for LARGE1 |
p-ENSG00000133424_img4.png |
| Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
| 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 MSBB. |
| 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 Mayo. |
| 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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in LARGE1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000354992 | 33856740 | 33856802 | hsa-miR-4711-5p | chr22:33856769-33856776 | 8mer-1a | chr22:33856766-33856784 | 144.00 | -18.36 |
| MSBB | ENST00000354992 | 33856740 | 33856802 | hsa-miR-4711-5p | chr22:33856769-33856776 | 8mer-1a | chr22:33856766-33856784 | 144.00 | -18.36 |
| ROSMAP | ENST00000354992 | 33856740 | 33856802 | hsa-miR-4711-5p | chr22:33856769-33856776 | 8mer-1a | chr22:33856766-33856784 | 144.00 | -18.36 |
Top |
SNVs in the skipped exons for LARGE1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
Top |
AD stage-associated exon skippint events for LARGE1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| CDR | MSBB | IFG | exon_skip_238137 | 3.743531e-01 | 4.969174e-02 | chr22 | - | 33604435 | 33604558 | 33626244 | 33626326 | 33650367 | 33650668 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LARGE1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_167282 | rs11913804 | chr22:33927511 | 4.642853e-04 | 3.195842e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for LARGE1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for LARGE1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for LARGE1 |
| 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)
|