ISLR
Basic information
Region (hg38): 15:74173709-74176872
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 ISLR 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 | 3 | |||||
missense | 31 | 32 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 31 | 1 | 3 |
Variants in ISLR
This is a list of pathogenic ClinVar variants found in the ISLR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-74174903-G-A | Benign (Jan 22, 2018) | |||
15-74174961-G-A | not specified | Uncertain significance (Aug 03, 2022) | ||
15-74174979-C-G | not specified | Uncertain significance (Apr 13, 2023) | ||
15-74174987-C-T | Benign (Jul 23, 2018) | |||
15-74175025-G-A | not specified | Uncertain significance (May 31, 2023) | ||
15-74175108-A-T | not specified | Uncertain significance (May 23, 2023) | ||
15-74175163-G-C | not specified | Uncertain significance (Feb 26, 2024) | ||
15-74175198-G-T | not specified | Uncertain significance (Jan 08, 2024) | ||
15-74175274-G-A | not specified | Uncertain significance (Mar 28, 2024) | ||
15-74175286-G-T | not specified | Uncertain significance (Oct 30, 2023) | ||
15-74175304-G-A | not specified | Uncertain significance (May 16, 2023) | ||
15-74175327-C-A | not specified | Uncertain significance (Mar 07, 2024) | ||
15-74175327-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
15-74175370-C-T | not specified | Uncertain significance (Apr 22, 2022) | ||
15-74175392-C-T | Benign (Feb 09, 2018) | |||
15-74175417-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
15-74175423-G-A | not specified | Uncertain significance (Jun 06, 2022) | ||
15-74175441-G-A | not specified | Uncertain significance (Mar 07, 2024) | ||
15-74175451-C-T | not specified | Uncertain significance (Aug 02, 2022) | ||
15-74175469-A-G | not specified | Uncertain significance (Sep 29, 2023) | ||
15-74175483-G-A | not specified | Likely benign (May 18, 2022) | ||
15-74175528-C-G | not specified | Uncertain significance (Nov 30, 2022) | ||
15-74175547-C-T | not specified | Uncertain significance (May 20, 2024) | ||
15-74175568-G-A | not specified | Uncertain significance (Apr 08, 2024) | ||
15-74175600-C-T | not specified | Uncertain significance (Aug 08, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ISLR | protein_coding | protein_coding | ENST00000249842 | 1 | 3202 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0186 | 0.905 | 125721 | 0 | 25 | 125746 | 0.0000994 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.926 | 236 | 280 | 0.844 | 0.0000184 | 2730 |
Missense in Polyphen | 75 | 99.555 | 0.75335 | 1071 | ||
Synonymous | -0.332 | 136 | 131 | 1.04 | 0.00000932 | 934 |
Loss of Function | 1.50 | 4 | 8.81 | 0.454 | 3.79e-7 | 92 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000277 | 0.000275 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000124 | 0.000123 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000197 | 0.000196 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis
(Consensus)
Recessive Scores
- pRec
- 0.123
Intolerance Scores
- loftool
- 0.682
- rvis_EVS
- -0.64
- rvis_percentile_EVS
- 16.63
Haploinsufficiency Scores
- pHI
- 0.565
- hipred
- N
- hipred_score
- 0.297
- ghis
- 0.605
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.194
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Islr
- Phenotype
- growth/size/body region phenotype; endocrine/exocrine gland phenotype; limbs/digits/tail phenotype; skeleton phenotype; hematopoietic system phenotype; reproductive system phenotype;
Gene ontology
- Biological process
- platelet degranulation;cell adhesion
- Cellular component
- extracellular region;platelet alpha granule lumen;extracellular exosome
- Molecular function