STAB1
Basic information
Region (hg38): 3:52495338-52524495
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 16 | ||||
missense | 169 | 13 | 184 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 2 | 3 | 5 | |||
non coding | 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) | ||
3-52501229-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
3-52501254-C-T | not specified | Uncertain significance (Mar 01, 2023) | ||
3-52501268-C-T | not specified | Uncertain significance (Oct 20, 2021) | ||
3-52501269-G-A | not specified | Uncertain significance (Dec 18, 2023) | ||
3-52501661-C-G | not specified | Uncertain significance (Apr 20, 2023) | ||
3-52501717-G-A | not specified | Uncertain significance (Aug 26, 2022) | ||
3-52501744-C-T | not specified | Uncertain significance (May 08, 2023) | ||
3-52502014-G-A | not specified | Uncertain significance (Jul 05, 2023) | ||
3-52502020-G-A | not specified | Uncertain significance (Nov 07, 2022) | ||
3-52502200-C-T | Likely benign (Aug 01, 2022) | |||
3-52502205-G-A | not specified | Uncertain significance (Apr 07, 2023) | ||
3-52502210-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
3-52502648-C-T | Benign (Dec 31, 2019) | |||
3-52502671-G-A | Uncertain significance (Dec 01, 2022) | |||
3-52502994-C-T | Likely benign (Mar 01, 2023) | |||
3-52503025-T-C | not specified | Uncertain significance (May 06, 2024) | ||
3-52503070-T-A | not specified | Uncertain significance (Sep 29, 2023) | ||
3-52503364-T-C | not specified | Uncertain significance (Aug 08, 2022) | ||
3-52503392-C-G | not specified | Uncertain significance (Sep 23, 2023) | ||
3-52503506-A-G | not specified | Uncertain significance (Dec 12, 2023) | ||
3-52503512-C-T | not specified | Uncertain significance (May 04, 2023) | ||
3-52503534-G-A | Likely benign (Apr 01, 2022) | |||
3-52503549-G-C | Likely benign (Feb 09, 2018) | |||
3-52503800-T-G | not specified | Uncertain significance (Jun 17, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
STAB1 | protein_coding | protein_coding | ENST00000321725 | 69 | 29158 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
8.68e-50 | 0.927 | 125376 | 0 | 370 | 125746 | 0.00147 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.09 | 1478 | 1.60e+3 | 0.923 | 0.000104 | 16659 |
Missense in Polyphen | 419 | 553.37 | 0.75719 | 6076 | ||
Synonymous | -1.82 | 727 | 667 | 1.09 | 0.0000459 | 5154 |
Loss of Function | 3.60 | 102 | 149 | 0.682 | 0.00000795 | 1565 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00263 | 0.00262 |
Ashkenazi Jewish | 0.00131 | 0.00129 |
East Asian | 0.00136 | 0.00136 |
Finnish | 0.000862 | 0.000786 |
European (Non-Finnish) | 0.00200 | 0.00194 |
Middle Eastern | 0.00136 | 0.00136 |
South Asian | 0.000623 | 0.000621 |
Other | 0.00132 | 0.00130 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
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