STARD9
Basic information
Region (hg38): 15:42575606-42720998
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 STARD9 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 | 16 | 11 | 27 | |||
missense | 423 | 64 | 19 | 506 | ||
nonsense | 5 | |||||
start loss | 0 | |||||
frameshift | 6 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 1 | 1 | 1 | 3 | ||
non coding | 2 | |||||
Total | 0 | 0 | 434 | 81 | 32 |
Variants in STARD9
This is a list of pathogenic ClinVar variants found in the STARD9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-42575758-A-G | not specified | Uncertain significance (Apr 20, 2024) | ||
15-42583368-A-G | not specified | Uncertain significance (May 03, 2023) | ||
15-42585527-A-T | not specified | Uncertain significance (Jan 24, 2024) | ||
15-42585561-A-G | STARD9-related disorder • not specified | Uncertain significance (Jul 06, 2021) | ||
15-42585566-A-G | not specified | Likely benign (Mar 15, 2024) | ||
15-42585609-A-G | not specified | Uncertain significance (Dec 13, 2023) | ||
15-42634950-C-T | not specified | Uncertain significance (Jun 26, 2024) | ||
15-42637928-C-T | not specified | Uncertain significance (Aug 21, 2024) | ||
15-42637933-A-G | not specified | Uncertain significance (Feb 17, 2024) | ||
15-42638042-A-G | not specified | Uncertain significance (Oct 06, 2023) | ||
15-42638072-G-A | not specified | Uncertain significance (Jun 13, 2023) | ||
15-42638713-T-C | not specified | Uncertain significance (Apr 08, 2022) | ||
15-42638723-G-A | not specified | Uncertain significance (Oct 12, 2024) | ||
15-42638762-C-G | not specified | Uncertain significance (Jul 13, 2021) | ||
15-42638774-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
15-42638784-G-A | Likely benign (May 02, 2018) | |||
15-42638801-C-T | not specified | Uncertain significance (Aug 19, 2023) | ||
15-42638810-A-C | not specified | Uncertain significance (Nov 10, 2024) | ||
15-42651010-C-T | STARD9-related disorder | Likely benign (Jul 19, 2019) | ||
15-42652566-G-A | not specified | Uncertain significance (Sep 26, 2024) | ||
15-42652570-T-G | not specified | Uncertain significance (Apr 12, 2023) | ||
15-42652576-C-A | not specified | Uncertain significance (Mar 29, 2023) | ||
15-42652576-C-T | not specified | Uncertain significance (Oct 27, 2023) | ||
15-42661174-A-G | Likely benign (Nov 01, 2022) | |||
15-42661176-C-T | not specified | Uncertain significance (Feb 28, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
STARD9 | protein_coding | protein_coding | ENST00000290607 | 33 | 145323 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.03e-38 | 1.00 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.50 | 2049 | 2.39e+3 | 0.856 | 0.000123 | 30591 |
Missense in Polyphen | 431 | 534.85 | 0.80583 | 7628 | ||
Synonymous | 3.47 | 801 | 936 | 0.856 | 0.0000492 | 9443 |
Loss of Function | 5.73 | 92 | 173 | 0.531 | 0.00000929 | 2105 |
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) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Microtubule-dependent motor protein required for spindle pole assembly during mitosis. Required to stabilize the pericentriolar material (PCM). {ECO:0000269|PubMed:22153075}.;
Recessive Scores
- pRec
- 0.0819
Intolerance Scores
- loftool
- rvis_EVS
- 7.31
- rvis_percentile_EVS
- 99.91
Haploinsufficiency Scores
- pHI
- 0.155
- hipred
- hipred_score
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.708
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | Medium | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Stard9
- Phenotype
Gene ontology
- Biological process
- microtubule-based movement;spindle assembly
- Cellular component
- nucleus;cytoplasm;centriole
- Molecular function
- microtubule motor activity;ATP binding;microtubule binding;lipid binding