STAB1

stabilin 1, the group of Scavenger receptors

Basic information

Region (hg38): 3:52495338-52524495

Links

ENSG00000010327NCBI:23166OMIM:608560HGNC:18628Uniprot:Q9NY15AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STAB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STAB1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
10
clinvar
6
clinvar
16
missense
169
clinvar
13
clinvar
2
clinvar
184
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
2
3
5
non coding
1
clinvar
1
clinvar
2
Total 0 0 169 24 9

Variants in STAB1

This is a list of pathogenic ClinVar variants found in the STAB1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
3-52495427-G-A not specified Likely benign (Mar 28, 2024)3322993
3-52501229-G-A not specified Uncertain significance (Mar 25, 2024)3322985
3-52501254-C-T not specified Uncertain significance (Mar 01, 2023)2492535
3-52501268-C-T not specified Uncertain significance (Oct 20, 2021)2207302
3-52501269-G-A not specified Uncertain significance (Dec 18, 2023)3170755
3-52501661-C-G not specified Uncertain significance (Apr 20, 2023)2539527
3-52501717-G-A not specified Uncertain significance (Aug 26, 2022)2378277
3-52501744-C-T not specified Uncertain significance (May 08, 2023)2512278
3-52502014-G-A not specified Uncertain significance (Jul 05, 2023)2592944
3-52502020-G-A not specified Uncertain significance (Nov 07, 2022)2371967
3-52502200-C-T Likely benign (Aug 01, 2022)2653888
3-52502205-G-A not specified Uncertain significance (Apr 07, 2023)2535300
3-52502210-G-A not specified Uncertain significance (Sep 16, 2021)2250427
3-52502648-C-T Benign (Dec 31, 2019)767910
3-52502671-G-A Uncertain significance (Dec 01, 2022)2653889
3-52502994-C-T Likely benign (Mar 01, 2023)2653890
3-52503025-T-C not specified Uncertain significance (May 06, 2024)3323001
3-52503070-T-A not specified Uncertain significance (Sep 29, 2023)3170794
3-52503364-T-C not specified Uncertain significance (Aug 08, 2022)2206633
3-52503392-C-G not specified Uncertain significance (Sep 23, 2023)3170798
3-52503506-A-G not specified Uncertain significance (Dec 12, 2023)3170799
3-52503512-C-T not specified Uncertain significance (May 04, 2023)2543603
3-52503534-G-A Likely benign (Apr 01, 2022)2653891
3-52503549-G-C Likely benign (Feb 09, 2018)709649
3-52503800-T-G not specified Uncertain significance (Jun 17, 2024)3323005

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
STAB1protein_codingprotein_codingENST00000321725 6929158
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
8.68e-500.92712537603701257460.00147
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.0914781.60e+30.9230.00010416659
Missense in Polyphen419553.370.757196076
Synonymous-1.827276671.090.00004595154
Loss of Function3.601021490.6820.000007951565

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002630.00262
Ashkenazi Jewish0.001310.00129
East Asian0.001360.00136
Finnish0.0008620.000786
European (Non-Finnish)0.002000.00194
Middle Eastern0.001360.00136
South Asian0.0006230.000621
Other0.001320.00130

dbNSFP

Source: dbNSFP

Function
FUNCTION: Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system. {ECO:0000269|PubMed:12077138, ECO:0000269|PubMed:16357325}.;
Pathway
Vesicle-mediated transport;Scavenging by Class H Receptors;Binding and Uptake of Ligands by Scavenger Receptors (Consensus)

Recessive Scores

pRec
0.143

Intolerance Scores

loftool
0.0541
rvis_EVS
-4.12
rvis_percentile_EVS
0.16

Haploinsufficiency Scores

pHI
0.271
hipred
N
hipred_score
0.466
ghis
0.523

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.335

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Stab1
Phenotype
renal/urinary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; homeostasis/metabolism phenotype; muscle phenotype;

Zebrafish Information Network

Gene name
stab1
Affected structure
vascular lymphangioblast
Phenotype tag
abnormal
Phenotype quality
hypoplastic

Gene ontology

Biological process
receptor-mediated endocytosis;inflammatory response;cell adhesion;cell-cell signaling;negative regulation of angiogenesis;defense response to bacterium;oxidation-reduction process
Cellular component
plasma membrane;integral component of plasma membrane;endocytic vesicle membrane
Molecular function
low-density lipoprotein particle receptor activity;scavenger receptor activity;calcium ion binding;protein binding;hyaluronic acid binding;protein disulfide oxidoreductase activity;low-density lipoprotein particle binding