SELPLG
Basic information
Region (hg38): 12:108620413-108633894
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 SELPLG 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 | 5 | |||||
missense | 22 | 29 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 22 | 9 | 4 |
Variants in SELPLG
This is a list of pathogenic ClinVar variants found in the SELPLG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-108623095-G-A | not specified | Uncertain significance (Jan 24, 2024) | ||
12-108623139-G-A | not specified | Uncertain significance (Dec 13, 2021) | ||
12-108623152-T-C | not specified | Uncertain significance (Jul 05, 2023) | ||
12-108623164-C-T | not specified | Uncertain significance (Mar 28, 2024) | ||
12-108623227-C-G | not specified | Uncertain significance (Sep 20, 2023) | ||
12-108623244-C-T | not specified | Uncertain significance (Nov 21, 2022) | ||
12-108623245-G-A | not specified | Uncertain significance (Mar 12, 2024) | ||
12-108623269-G-A | not specified | Uncertain significance (Jan 02, 2024) | ||
12-108623303-G-A | SELPLG-related disorder | Likely benign (Dec 23, 2019) | ||
12-108623359-C-T | not specified | Uncertain significance (Oct 26, 2021) | ||
12-108623395-C-T | SELPLG-related disorder | Likely benign (Jan 11, 2021) | ||
12-108623396-G-A | SELPLG-related disorder | Likely benign (Jul 31, 2018) | ||
12-108623443-A-G | not specified | Likely benign (Nov 18, 2023) | ||
12-108623518-T-C | not specified | Uncertain significance (Mar 21, 2023) | ||
12-108623547-G-A | not specified | Uncertain significance (Jan 30, 2024) | ||
12-108623591-C-T | Benign (Apr 25, 2018) | |||
12-108623614-G-C | not specified | Uncertain significance (Jan 07, 2022) | ||
12-108623772-G-A | not specified | Uncertain significance (Jun 06, 2023) | ||
12-108623782-G-A | not specified | Uncertain significance (Apr 09, 2024) | ||
12-108623793-T-G | not specified | Uncertain significance (Oct 12, 2021) | ||
12-108623832-G-A | not specified | Uncertain significance (Apr 01, 2024) | ||
12-108623838-G-A | Benign (Jul 17, 2018) | |||
12-108623874-GGAGTGGTCTGTGCCTCCGTGGGCACTGGTT-G | Benign (Aug 22, 2018) | |||
12-108623892-G-A | not specified | Likely benign (Apr 05, 2023) | ||
12-108623982-A-T | not specified | Uncertain significance (Jan 31, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SELPLG | protein_coding | protein_coding | ENST00000228463 | 2 | 12050 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.177 | 0.656 | 124325 | 0 | 2 | 124327 | 0.00000804 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.0975 | 246 | 242 | 1.02 | 0.0000136 | 2700 |
Missense in Polyphen | 41 | 48.311 | 0.84868 | 519 | ||
Synonymous | -1.06 | 116 | 102 | 1.13 | 0.00000622 | 1005 |
Loss of Function | 0.860 | 1 | 2.45 | 0.408 | 1.04e-7 | 33 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000179 | 0.0000179 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. Critical for the initial leukocyte capture. {ECO:0000269|PubMed:11566773, ECO:0000269|PubMed:12403782}.;
- Pathway
- Cell adhesion molecules (CAMs) - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Human Complement System;Cell surface interactions at the vascular wall;Hemostasis;amb2 Integrin signaling
(Consensus)
Recessive Scores
- pRec
- 0.132
Intolerance Scores
- loftool
- 0.784
- rvis_EVS
- 1.22
- rvis_percentile_EVS
- 93.19
Haploinsufficiency Scores
- pHI
- 0.0250
- hipred
- N
- hipred_score
- 0.310
- ghis
- 0.417
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.859
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Selplg
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); renal/urinary system phenotype; immune system phenotype; hematopoietic 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);
Gene ontology
- Biological process
- cell adhesion;viral entry into host cell;leukocyte migration;leukocyte tethering or rolling;leukocyte adhesive activation;cellular response to interleukin-6
- Cellular component
- uropod;plasma membrane;integral component of plasma membrane;membrane;integral component of membrane;plasma membrane raft
- Molecular function
- virus receptor activity;signaling receptor binding;protein binding