Gene summary |
Gene information | Gene symbol | SPTSSB |
Gene ID | 165679 | Gene name | serine palmitoyltransferase small subunit B |
Synonyms | ADMP|C3orf57|SSSPTB |
Cytomap | 3q26.1 |
Type of gene | protein-coding |
Description | serine palmitoyltransferase small subunit Bandrogen down regulated in mouse prostatelikely ortholog of androgen down regulated gene expressed in mouse prostatesmall subunit of serine palmitoyltransferase B |
Modification date | 20200313 |
UniProtAcc | Q6ZWB5, Q8NFR3, |
Context | |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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. |
ENSG00000196542
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
***cutpoints = c(0, 0.0001, 0.001, 0.01, 1), symbols = c("****", "***", "**", "ns")
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
PG | DOWN | 8.611640e+01 | -8.711291e-01 | 8.711686e-08 | 3.348510e-06 |
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 | DOWN | ENST00000359175.8 | SPTSSB-201:protein_coding:SPTSSB | 7.355875e+01 | -9.449578e-01 | 2.954452e-09 | 9.807389e-07 |
PG | DOWN | ENST00000497374.1 | SPTSSB-203:retained_intron:SPTSSB | 3.180525e+00 | -1.021959e+00 | 8.959456e-08 | 1.387507e-05 |
PG | DOWN | ENST00000497137.1 | SPTSSB-202:protein_coding:SPTSSB | 1.975656e+00 | -1.661608e+00 | 2.870746e-04 | 5.935161e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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_248986 | chr3 | 161345775:161346355:161347965:161348103:161359802:161359894 | 161347965:161348103 |
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 |
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 |
ENST00000497137 | 161347965 | 161348103 | 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 |
ENST00000497137 | 161347965 | 161348103 | 3UTR-3UTR |
p-ENSG00000196542_img4.png
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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 |
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 | ENST00000497137 | 161347965 | 161348103 | hsa-miR-6077 | chr3:161348036-161348043 | 8mer-1a | chr3:161348022-161348043 | 154.00 | -18.49 |
Mayo | ENST00000497137 | 161347965 | 161348103 | hsa-miR-7162-5p | chr3:161348043-161348050 | 8mer-1a | chr3:161348033-161348050 | 151.00 | -18.43 |
Mayo | ENST00000497137 | 161347965 | 161348103 | hsa-miR-8068 | chr3:161348067-161348074 | 8mer-1a | chr3:161348052-161348074 | 163.00 | -18.15 |
Mayo | ENST00000497137 | 161347965 | 161348103 | hsa-miR-516b-3p | chr3:161348043-161348050 | 8mer-1a | chr3:161348033-161348050 | 151.00 | -18.43 |
Mayo | ENST00000497137 | 161347965 | 161348103 | hsa-miR-516a-3p | chr3:161348043-161348050 | 8mer-1a | chr3:161348033-161348050 | 151.00 | -18.43 |
Mayo | ENST00000497137 | 161347965 | 161348103 | hsa-miR-580-3p | chr3:161348007-161348014 | 8mer-1a | chr3:161347999-161348021 | 156.00 | -15.02 |
Mayo | ENST00000497137 | 161347965 | 161348103 | hsa-miR-939-3p | chr3:161348089-161348096 | 8mer-1a | chr3:161348076-161348096 | 158.00 | -23.06 |
ROSMAP | ENST00000497137 | 161347965 | 161348103 | hsa-miR-6077 | chr3:161348036-161348043 | 8mer-1a | chr3:161348022-161348043 | 154.00 | -18.49 |
ROSMAP | ENST00000497137 | 161347965 | 161348103 | hsa-miR-7162-5p | chr3:161348043-161348050 | 8mer-1a | chr3:161348033-161348050 | 151.00 | -18.43 |
ROSMAP | ENST00000497137 | 161347965 | 161348103 | hsa-miR-8068 | chr3:161348067-161348074 | 8mer-1a | chr3:161348052-161348074 | 163.00 | -18.15 |
ROSMAP | ENST00000497137 | 161347965 | 161348103 | hsa-miR-516b-3p | chr3:161348043-161348050 | 8mer-1a | chr3:161348033-161348050 | 151.00 | -18.43 |
ROSMAP | ENST00000497137 | 161347965 | 161348103 | hsa-miR-516a-3p | chr3:161348043-161348050 | 8mer-1a | chr3:161348033-161348050 | 151.00 | -18.43 |
ROSMAP | ENST00000497137 | 161347965 | 161348103 | hsa-miR-580-3p | chr3:161348007-161348014 | 8mer-1a | chr3:161347999-161348021 | 156.00 | -15.02 |
ROSMAP | ENST00000497137 | 161347965 | 161348103 | hsa-miR-939-3p | chr3:161348089-161348096 | 8mer-1a | chr3:161348076-161348096 | 158.00 | -23.06 |
- 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 |
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 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |