|
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 SLC7A7 |
Gene summary |
Gene information | Gene symbol | SLC7A7 | Gene ID | 9056 |
Gene name | solute carrier family 7 member 7 | |
Synonyms | LAT3|LPI|MOP-2|Y+LAT1|y+LAT-1 | |
Cytomap | 14q11.2 | |
Type of gene | protein-coding | |
Description | Y+L amino acid transporter 1monocyte amino acid permease 2solute carrier family 7 (amino acid transporter light chain, y+L system), member 7solute carrier family 7 (cationic amino acid transporter, y+ system), member 7y(+)L-type amino acid transporter | |
Modification date | 20200313 | |
UniProtAcc | A0A0S2Z4V9, A0A0S2Z4W9, | |
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 SLC7A7 |
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 |
PG | UP | ENST00000554061.5 | SLC7A7-209:lncRNA:SLC7A7 | 2.796705e+00 | 1.846473e+00 | 5.042625e-03 | 4.598212e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SLC7A7 |
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_43625 | chr14 | 22775833:22775936:22776195:22776318:22778793:22778937 | 22776195:22776318 |
exon_skip_73629 | chr14 | 22813418:22813440:22815320:22815451:22819638:22819721 | 22815320:22815451 |
exon_skip_81166 | chr14 | 22778793:22778937:22779926:22780051:22812900:22813440 | 22779926:22780051 |
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 SLC7A7 |
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 |
ENST00000555702 | 22815320 | 22815451 | 3UTR-3UTR |
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 |
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 |
ENST00000555702 | 22815320 | 22815451 | 3UTR-3UTR |
ENST00000285850 | 22776195 | 22776318 | Frame-shift |
ENST00000397528 | 22776195 | 22776318 | Frame-shift |
ENST00000397529 | 22776195 | 22776318 | Frame-shift |
ENST00000397532 | 22776195 | 22776318 | Frame-shift |
ENST00000555702 | 22776195 | 22776318 | Frame-shift |
ENST00000285850 | 22779926 | 22780051 | In-frame |
ENST00000397528 | 22779926 | 22780051 | In-frame |
ENST00000397529 | 22779926 | 22780051 | In-frame |
ENST00000397532 | 22779926 | 22780051 | In-frame |
ENST00000555702 | 22779926 | 22780051 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SLC7A7 |
p-ENSG00000155465_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 |
ENST00000285850 | 2280 | 511 | 22779926 | 22780051 | 839 | 963 | 166 | 208 |
ENST00000397528 | 2115 | 511 | 22779926 | 22780051 | 742 | 866 | 166 | 208 |
ENST00000397529 | 2111 | 511 | 22779926 | 22780051 | 701 | 825 | 166 | 208 |
ENST00000397532 | 2464 | 511 | 22779926 | 22780051 | 1026 | 1150 | 166 | 208 |
ENST00000555702 | 2289 | 511 | 22779926 | 22780051 | 848 | 972 | 166 | 208 |
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 |
Q9UM01 | 166 | 208 | 1 | 511 | Chain | ID=PRO_0000054281;Note=Y+L amino acid transporter 1 |
Q9UM01 | 166 | 208 | 1 | 511 | Chain | ID=PRO_0000054281;Note=Y+L amino acid transporter 1 |
Q9UM01 | 166 | 208 | 1 | 511 | Chain | ID=PRO_0000054281;Note=Y+L amino acid transporter 1 |
Q9UM01 | 166 | 208 | 1 | 511 | Chain | ID=PRO_0000054281;Note=Y+L amino acid transporter 1 |
Q9UM01 | 166 | 208 | 1 | 511 | Chain | ID=PRO_0000054281;Note=Y+L amino acid transporter 1 |
Q9UM01 | 166 | 208 | 188 | 188 | Natural variant | ID=VAR_030596;Note=In LPI%3B failed to induce cationic amino acid transport activity. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15776427,ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833819,PMID:15776427,PMID:17764084 |
Q9UM01 | 166 | 208 | 188 | 188 | Natural variant | ID=VAR_030596;Note=In LPI%3B failed to induce cationic amino acid transport activity. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15776427,ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833819,PMID:15776427,PMID:17764084 |
Q9UM01 | 166 | 208 | 188 | 188 | Natural variant | ID=VAR_030596;Note=In LPI%3B failed to induce cationic amino acid transport activity. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15776427,ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833819,PMID:15776427,PMID:17764084 |
Q9UM01 | 166 | 208 | 188 | 188 | Natural variant | ID=VAR_030596;Note=In LPI%3B failed to induce cationic amino acid transport activity. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15776427,ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833819,PMID:15776427,PMID:17764084 |
Q9UM01 | 166 | 208 | 188 | 188 | Natural variant | ID=VAR_030596;Note=In LPI%3B failed to induce cationic amino acid transport activity. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15776427,ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833819,PMID:15776427,PMID:17764084 |
Q9UM01 | 166 | 208 | 191 | 191 | Natural variant | ID=VAR_039100;Note=In LPI. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833820,PMID:17764084 |
Q9UM01 | 166 | 208 | 191 | 191 | Natural variant | ID=VAR_039100;Note=In LPI. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833820,PMID:17764084 |
Q9UM01 | 166 | 208 | 191 | 191 | Natural variant | ID=VAR_039100;Note=In LPI. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833820,PMID:17764084 |
Q9UM01 | 166 | 208 | 191 | 191 | Natural variant | ID=VAR_039100;Note=In LPI. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833820,PMID:17764084 |
Q9UM01 | 166 | 208 | 191 | 191 | Natural variant | ID=VAR_039100;Note=In LPI. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17764084;Dbxref=dbSNP:rs386833820,PMID:17764084 |
Q9UM01 | 166 | 208 | 160 | 180 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 160 | 180 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 160 | 180 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 160 | 180 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 160 | 180 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 186 | 206 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 186 | 206 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 186 | 206 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 186 | 206 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UM01 | 166 | 208 | 186 | 206 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in SLC7A7 |
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 | ENST00000555702 | 22815320 | 22815451 | hsa-miR-1231 | chr14:22815440-22815447 | 8mer-1a | chr14:22815428-22815447 | 142.00 | -16.39 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-7113-3p | chr14:22815369-22815376 | 8mer-1a | chr14:22815354-22815376 | 158.00 | -21.38 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-3922-3p | chr14:22815437-22815444 | 8mer-1a | chr14:22815421-22815444 | 158.00 | -22.81 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-5580-5p | chr14:22815419-22815426 | 8mer-1a | chr14:22815418-22815438 | 163.00 | -21.34 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-4505 | chr14:22815416-22815423 | 8mer-1a | chr14:22815405-22815423 | 160.00 | -29.81 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-211-5p | chr14:22815430-22815437 | 8mer-1a | chr14:22815418-22815438 | 163.00 | -21.34 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-3176 | chr14:22815437-22815444 | 8mer-1a | chr14:22815421-22815444 | 158.00 | -22.81 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-4732-3p | chr14:22815367-22815374 | 8mer-1a | chr14:22815354-22815376 | 158.00 | -21.38 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-4747-5p | chr14:22815412-22815419 | 8mer-1a | chr14:22815398-22815421 | 170.00 | -30.56 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-5196-5p | chr14:22815412-22815419 | 8mer-1a | chr14:22815398-22815421 | 170.00 | -30.56 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-5787 | chr14:22815416-22815423 | 8mer-1a | chr14:22815405-22815423 | 160.00 | -29.81 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-6832-3p | chr14:22815429-22815436 | 8mer-1a | chr14:22815418-22815438 | 163.00 | -21.34 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-589-5p | chr14:22815342-22815349 | 8mer-1a | chr14:22815342-22815365 | 157.00 | -20.39 |
Mayo | ENST00000555702 | 22815320 | 22815451 | hsa-miR-204-5p | chr14:22815430-22815437 | 8mer-1a | chr14:22815418-22815438 | 163.00 | -21.34 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-1231 | chr14:22815440-22815447 | 8mer-1a | chr14:22815428-22815447 | 142.00 | -16.39 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-7113-3p | chr14:22815369-22815376 | 8mer-1a | chr14:22815354-22815376 | 158.00 | -21.38 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-3922-3p | chr14:22815437-22815444 | 8mer-1a | chr14:22815421-22815444 | 158.00 | -22.81 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-5580-5p | chr14:22815419-22815426 | 8mer-1a | chr14:22815418-22815438 | 163.00 | -21.34 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-4505 | chr14:22815416-22815423 | 8mer-1a | chr14:22815405-22815423 | 160.00 | -29.81 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-211-5p | chr14:22815430-22815437 | 8mer-1a | chr14:22815418-22815438 | 163.00 | -21.34 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-3176 | chr14:22815437-22815444 | 8mer-1a | chr14:22815421-22815444 | 158.00 | -22.81 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-4732-3p | chr14:22815367-22815374 | 8mer-1a | chr14:22815354-22815376 | 158.00 | -21.38 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-4747-5p | chr14:22815412-22815419 | 8mer-1a | chr14:22815398-22815421 | 170.00 | -30.56 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-5196-5p | chr14:22815412-22815419 | 8mer-1a | chr14:22815398-22815421 | 170.00 | -30.56 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-5787 | chr14:22815416-22815423 | 8mer-1a | chr14:22815405-22815423 | 160.00 | -29.81 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-6832-3p | chr14:22815429-22815436 | 8mer-1a | chr14:22815418-22815438 | 163.00 | -21.34 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-589-5p | chr14:22815342-22815349 | 8mer-1a | chr14:22815342-22815365 | 157.00 | -20.39 |
ROSMAP | ENST00000555702 | 22815320 | 22815451 | hsa-miR-204-5p | chr14:22815430-22815437 | 8mer-1a | chr14:22815418-22815438 | 163.00 | -21.34 |
Top |
SNVs in the skipped exons for SLC7A7 |
- 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 SLC7A7 |
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 SLC7A7 |
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 SLC7A7 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for SLC7A7 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q9UM01 | approved | DB13146 | Fluciclovine (18F) | small molecule | Q9UM01 |
Top |
RelatedDiseases for SLC7A7 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |