KIR3DL1
Basic information
Region (hg38): 19:54816468-54830778
Previous symbols: [ "KIR" ]
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 KIR3DL1 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 | 1 | |||||
missense | 35 | 41 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 35 | 8 | 0 |
Variants in KIR3DL1
This is a list of pathogenic ClinVar variants found in the KIR3DL1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-54817565-C-A | not specified | Uncertain significance (Dec 16, 2021) | ||
19-54818330-C-G | not specified | Uncertain significance (Sep 06, 2022) | ||
19-54818344-T-C | not specified | Uncertain significance (Jan 12, 2024) | ||
19-54818353-G-A | not specified | Uncertain significance (Jan 12, 2024) | ||
19-54818366-G-A | not specified | Likely benign (Feb 02, 2022) | ||
19-54818377-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
19-54818402-A-G | not specified | Uncertain significance (Oct 20, 2023) | ||
19-54818489-T-C | not specified | Uncertain significance (Aug 11, 2022) | ||
19-54818540-A-G | not specified | Uncertain significance (Dec 15, 2022) | ||
19-54818552-C-T | not specified | Uncertain significance (Apr 07, 2023) | ||
19-54818581-G-A | Keratoconus | Uncertain significance (Apr 01, 2023) | ||
19-54819767-G-A | not specified | Uncertain significance (May 14, 2024) | ||
19-54819802-A-G | not specified | Likely benign (Dec 14, 2022) | ||
19-54819832-G-T | Keratoconus | Uncertain significance (Apr 01, 2023) | ||
19-54819842-AG-A | Likely benign (Dec 01, 2023) | |||
19-54819844-G-A | Likely benign (Jul 01, 2022) | |||
19-54819859-G-T | not specified | Uncertain significance (Oct 10, 2023) | ||
19-54819893-A-G | not specified | Uncertain significance (Nov 15, 2021) | ||
19-54819904-G-A | not specified | Uncertain significance (Mar 06, 2023) | ||
19-54819911-T-A | not specified | Uncertain significance (Aug 02, 2023) | ||
19-54819929-G-A | not specified | Uncertain significance (Mar 12, 2024) | ||
19-54819962-C-T | not specified | Uncertain significance (Sep 28, 2022) | ||
19-54819970-C-G | not specified | Uncertain significance (Oct 18, 2021) | ||
19-54819972-G-C | not specified | Uncertain significance (Jan 24, 2024) | ||
19-54821573-G-A | not specified | Uncertain significance (Dec 03, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KIR3DL1 | protein_coding | protein_coding | ENST00000391728 | 9 | 142480 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
8.36e-14 | 0.00517 | 118152 | 36 | 137 | 118325 | 0.000731 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -1.62 | 299 | 230 | 1.30 | 0.0000126 | 2840 |
Missense in Polyphen | 40 | 38.708 | 1.0334 | 514 | ||
Synonymous | -1.46 | 107 | 89.5 | 1.20 | 0.00000521 | 874 |
Loss of Function | -0.857 | 18 | 14.5 | 1.24 | 6.77e-7 | 209 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00227 | 0.00205 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000968 | 0.000737 |
Finnish | 0.0000997 | 0.0000992 |
European (Non-Finnish) | 0.00116 | 0.000996 |
Middle Eastern | 0.000968 | 0.000737 |
South Asian | 0.000224 | 0.000149 |
Other | 0.000356 | 0.000345 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis. {ECO:0000269|PubMed:22020283}.;
- Pathway
- Antigen processing and presentation - Homo sapiens (human);Graft-versus-host disease - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Validated targets of C-MYC transcriptional activation
(Consensus)
Intolerance Scores
- loftool
- 0.972
- rvis_EVS
- 3.34
- rvis_percentile_EVS
- 99.43
Haploinsufficiency Scores
- pHI
- 0.0581
- hipred
- N
- hipred_score
- 0.165
- ghis
- 0.441
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0389
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kir3dl2
- Phenotype
Gene ontology
- Biological process
- immune response;natural killer cell mediated cytotoxicity;regulation of immune response
- Cellular component
- plasma membrane;integral component of plasma membrane
- Molecular function
- amyloid-beta binding;protein binding;HLA-B specific inhibitory MHC class I receptor activity