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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 SRR |
Gene summary |
Gene information | Gene symbol | SRR | Gene ID | 63826 |
Gene name | serine racemase | |
Synonyms | ILV1|ISO1 | |
Cytomap | 17p13.3 | |
Type of gene | protein-coding | |
Description | serine racemaseD-serine ammonia-lyaseD-serine dehydrataseL-serine ammonia-lyaseL-serine dehydratase | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 29338921(Faster progression from MCI to probable AD for carriers of a single-nucleotide polymorphism associated with type 2 diabetes) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
SRR | GO:0006563 | L-serine metabolic process | 11054547|15193426|20106978 |
SRR | GO:0042866 | pyruvate biosynthetic process | 18812225 |
SRR | GO:0070178 | D-serine metabolic process | 20106978 |
SRR | GO:0070179 | D-serine biosynthetic process | 11054547|15193426 |
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Gene structures and expression levels for SRR |
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 |
TC | UP | ENST00000368195.4 | INSRR-201:protein_coding:INSRR | 9.319592e+00 | 2.683263e+00 | 7.296044e-20 | 1.792169e-16 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SRR |
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_137995 | chr17 | 2303950:2304017:2309777:2309990:2315557:2315728 | 2309777:2309990 |
exon_skip_213350 | chr17 | 2321306:2321425:2321542:2321616:2323136:2323156 | 2321542:2321616 |
exon_skip_22683 | chr17 | 2303950:2304017:2309777:2309990:2315557:2315572 | 2309777:2309990 |
exon_skip_283844 | chr17 | 2321306:2321425:2321542:2321616:2323136:2323222 | 2321542:2321616 |
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 |
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Open reading frame (ORF) annotation in the exon skipping event for SRR |
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 |
ENST00000344595 | 2321542 | 2321616 | 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 |
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 |
ENST00000344595 | 2321542 | 2321616 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SRR |
p-ENSG00000167720_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 |
ENST00000344595 | 2745 | 340 | 2321542 | 2321616 | 839 | 912 | 173 | 198 |
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 |
ENST00000344595 | 2745 | 340 | 2321542 | 2321616 | 839 | 912 | 173 | 198 |
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 |
Q9GZT4 | 173 | 198 | 179 | 183 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L6B |
Q9GZT4 | 173 | 198 | 185 | 187 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L6B |
Q9GZT4 | 173 | 198 | 1 | 340 | Chain | ID=PRO_0000185650;Note=Serine racemase |
Q9GZT4 | 173 | 198 | 157 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L6B |
Q9GZT4 | 173 | 198 | 188 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L6B |
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 |
Q9GZT4 | 173 | 198 | 179 | 183 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L6B |
Q9GZT4 | 173 | 198 | 185 | 187 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L6B |
Q9GZT4 | 173 | 198 | 1 | 340 | Chain | ID=PRO_0000185650;Note=Serine racemase |
Q9GZT4 | 173 | 198 | 157 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L6B |
Q9GZT4 | 173 | 198 | 188 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L6B |
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3'-UTR located exon skipping events that lost miRNA binding sites in SRR |
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 |
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SNVs in the skipped exons for SRR |
- 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 |
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AD stage-associated exon skippint events for SRR |
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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SRR |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for SRR |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SRR |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q9GZT4 | approved|investigational|nutraceutical | DB00114 | Pyridoxal phosphate | small molecule | Q9GZT4 |
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RelatedDiseases for SRR |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |