|
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 FXYD6 |
Gene summary |
Gene information | Gene symbol | FXYD6 | Gene ID | 53826 |
Gene name | FXYD domain containing ion transport regulator 6 | |
Synonyms | - | |
Cytomap | 11q23.3 | |
Type of gene | protein-coding | |
Description | FXYD domain-containing ion transport regulator 6phosphohippolin | |
Modification date | 20200313 | |
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 |
Top |
Gene structures and expression levels for FXYD6 |
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. |
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 |
STG | UP | ENST00000529335.6 | FXYD6-208:protein_coding:FXYD6 | 1.495631e+01 | 1.930075e+00 | 5.087718e-06 | 1.737986e-03 |
STG | UP | ENST00000527053.1 | FXYD6-205:retained_intron:FXYD6 | 7.229866e+00 | 9.102892e-01 | 5.214844e-06 | 1.766690e-03 |
CB | UP | ENST00000532984.1 | FXYD6-FXYD2-201:protein_coding:FXYD6 | 8.083686e+00 | 8.713744e-01 | 1.630099e-07 | 3.207863e-06 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FXYD6 |
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_128838 | chr11 | 117842719:117842781:117844110:117844206:117858211:117858286 | 117844110:117844206 |
exon_skip_181455 | chr11 | 117839781:117839830:117840344:117840368:117841148:117841184 | 117840344:117840368 |
exon_skip_255152 | chr11 | 117839781:117839830:117840319:117840368:117841148:117841184 | 117840319:117840368 |
exon_skip_279386 | chr11 | 117839781:117839830:117840237:117840368:117841148:117841184 | 117840237:117840368 |
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 FXYD6 |
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 |
ENST00000260282 | 117844110 | 117844206 | 3UTR-3UTR |
ENST00000260282 | 117840319 | 117840368 | Frame-shift |
ENST00000524656 | 117840319 | 117840368 | Frame-shift |
ENST00000526014 | 117840319 | 117840368 | Frame-shift |
ENST00000527717 | 117840319 | 117840368 | Frame-shift |
ENST00000530956 | 117840319 | 117840368 | Frame-shift |
ENST00000539526 | 117840319 | 117840368 | Frame-shift |
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 |
ENST00000260282 | 117840319 | 117840368 | Frame-shift |
ENST00000524656 | 117840319 | 117840368 | Frame-shift |
ENST00000526014 | 117840319 | 117840368 | Frame-shift |
ENST00000527717 | 117840319 | 117840368 | Frame-shift |
ENST00000530956 | 117840319 | 117840368 | Frame-shift |
ENST00000539526 | 117840319 | 117840368 | Frame-shift |
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 |
ENST00000260282 | 117844110 | 117844206 | 3UTR-3UTR |
ENST00000260282 | 117840319 | 117840368 | Frame-shift |
ENST00000524656 | 117840319 | 117840368 | Frame-shift |
ENST00000526014 | 117840319 | 117840368 | Frame-shift |
ENST00000527717 | 117840319 | 117840368 | Frame-shift |
ENST00000530956 | 117840319 | 117840368 | Frame-shift |
ENST00000539526 | 117840319 | 117840368 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for FXYD6 |
p-ENSG00000137726_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 FXYD6 |
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 | ENST00000260282 | 117844110 | 117844206 | hsa-miR-4256 | chr11:117844166-117844173 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
Mayo | ENST00000260282 | 117844110 | 117844206 | hsa-miR-11181-5p | chr11:117844166-117844173 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
Mayo | ENST00000260282 | 117844110 | 117844206 | hsa-miR-7974 | chr11:117844184-117844191 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
Mayo | ENST00000260282 | 117844110 | 117844206 | hsa-miR-4750-3p | chr11:117844165-117844172 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
Mayo | ENST00000260282 | 117844110 | 117844206 | hsa-miR-3691-5p | chr11:117844180-117844187 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
Mayo | ENST00000260282 | 117844110 | 117844206 | hsa-miR-6846-3p | chr11:117844163-117844170 | 8mer-1a | chr11:117844160-117844183 | 140.00 | -30.45 |
ROSMAP | ENST00000260282 | 117844110 | 117844206 | hsa-miR-4256 | chr11:117844166-117844173 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
ROSMAP | ENST00000260282 | 117844110 | 117844206 | hsa-miR-11181-5p | chr11:117844166-117844173 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
ROSMAP | ENST00000260282 | 117844110 | 117844206 | hsa-miR-7974 | chr11:117844184-117844191 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
ROSMAP | ENST00000260282 | 117844110 | 117844206 | hsa-miR-4750-3p | chr11:117844165-117844172 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
ROSMAP | ENST00000260282 | 117844110 | 117844206 | hsa-miR-3691-5p | chr11:117844180-117844187 | 8mer-1a | chr11:117844164-117844191 | 163.00 | -29.37 |
ROSMAP | ENST00000260282 | 117844110 | 117844206 | hsa-miR-6846-3p | chr11:117844163-117844170 | 8mer-1a | chr11:117844160-117844183 | 140.00 | -30.45 |
Top |
SNVs in the skipped exons for FXYD6 |
- 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 FXYD6 |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FXYD6 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for FXYD6 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for FXYD6 |
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 FXYD6 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |