Gene summary |
Gene information | Gene symbol | SIGLEC1 |
Gene ID | 6614 | Gene name | sialic acid binding Ig like lectin 1 |
Synonyms | CD169|SIGLEC-1|SN |
Cytomap | 20p13 |
Type of gene | protein-coding |
Description | sialoadhesinsialic acid binding Ig-like lectin 1, sialoadhesinsialic acid-binding immunoglobulin-like lectin 1 |
Modification date | 20200313 |
UniProtAcc | A5D8Z7, H7C0M6, Q9BZZ2, |
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. |
ENSG00000088827
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 |
PCC | UP | 5.969785e+01 | 8.865986e-01 | 5.004271e-08 | 1.426919e-05 |
STG | UP | 3.367702e+01 | 9.704806e-01 | 5.647381e-05 | 4.294843e-03 |
PG | UP | 2.608754e+01 | 1.042039e+00 | 1.578935e-11 | 3.659843e-09 |
TC | UP | 7.996494e+01 | 9.098453e-01 | 3.582057e-07 | 8.373293e-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 |
PCC | UP | ENST00000419548.4 | SIGLEC1-202:protein_coding:SIGLEC1 | 8.809398e+00 | 1.105616e+00 | 4.307438e-06 | 7.179792e-04 |
STG | UP | ENST00000344754.5 | SIGLEC1-201:protein_coding:SIGLEC1 | 2.510309e+01 | 8.942471e-01 | 4.188249e-04 | 2.502723e-02 |
PG | UP | ENST00000344754.5 | SIGLEC1-201:protein_coding:SIGLEC1 | 2.182459e+01 | 9.373600e-01 | 3.524164e-08 | 6.608120e-06 |
PG | UP | ENST00000419548.4 | SIGLEC1-202:protein_coding:SIGLEC1 | 3.921820e+00 | 1.512109e+00 | 1.006624e-06 | 8.913383e-05 |
TC | UP | ENST00000344754.5 | SIGLEC1-201:protein_coding:SIGLEC1 | 5.110697e+01 | 9.693455e-01 | 5.454781e-06 | 1.597823e-04 |
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_129957 | chr20 | 3699202:3699459:3701342:3701641:3703197:3703451 | 3701342:3701641 |
exon_skip_242880 | chr20 | 3686970:3688619:3689155:3689227:3689600:3689702 | 3689155:3689227 |
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 |
ENST00000344754 | 3689155 | 3689227 | Frame-shift |
ENST00000344754 | 3701342 | 3701641 | 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 |
ENST00000344754 | 3689155 | 3689227 | Frame-shift |
p-ENSG00000088827_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 |
ENST00000344754 | 6737 | 1709 | 3701342 | 3701641 | 1229 | 1527 | 409 | 509 |
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 |
Q9BZZ2 | 409 | 509 | 20 | 1709 | Chain | ID=PRO_0000014968;Note=Sialoadhesin |
Q9BZZ2 | 409 | 509 | 433 | 491 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
Q9BZZ2 | 409 | 509 | 411 | 507 | Domain | Note=Ig-like C2-type 4 |
Q9BZZ2 | 409 | 509 | 499 | 499 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9BZZ2 | 409 | 509 | 464 | 464 | Natural variant | ID=VAR_049944;Note=R->H;Dbxref=dbSNP:rs34924243 |
Q9BZZ2 | 409 | 509 | 20 | 1641 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
- 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 |