STARD9

StAR related lipid transfer domain containing 9, the group of StAR related lipid transfer domain containing|Kinesins

Basic information

Region (hg38): 15:42575606-42720998

Links

ENSG00000159433NCBI:57519OMIM:614642HGNC:19162Uniprot:Q9P2P6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STARD9 gene.

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
clinvar
11
clinvar
27
missense
423
clinvar
64
clinvar
19
clinvar
506
nonsense
5
clinvar
5
start loss
0
frameshift
5
clinvar
1
clinvar
6
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
splice region
1
1
1
3
non coding
2
clinvar
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)3323162
15-42583368-A-G not specified Uncertain significance (May 03, 2023)2542466
15-42585527-A-T not specified Uncertain significance (Jan 24, 2024)3171029
15-42585561-A-G STARD9-related disorder • not specified Uncertain significance (Jul 06, 2021)2350746
15-42585566-A-G not specified Likely benign (Mar 15, 2024)3323139
15-42585609-A-G not specified Uncertain significance (Dec 13, 2023)3171049
15-42634950-C-T not specified Uncertain significance (Jun 26, 2024)3450370
15-42637928-C-T not specified Uncertain significance (Aug 21, 2024)3450381
15-42637933-A-G not specified Uncertain significance (Feb 17, 2024)3171061
15-42638042-A-G not specified Uncertain significance (Oct 06, 2023)3171064
15-42638072-G-A not specified Uncertain significance (Jun 13, 2023)2559873
15-42638713-T-C not specified Uncertain significance (Apr 08, 2022)2282526
15-42638723-G-A not specified Uncertain significance (Oct 12, 2024)2305349
15-42638762-C-G not specified Uncertain significance (Jul 13, 2021)2349895
15-42638774-G-A not specified Uncertain significance (Feb 28, 2023)2491357
15-42638784-G-A Likely benign (May 02, 2018)779160
15-42638801-C-T not specified Uncertain significance (Aug 19, 2023)2619513
15-42638810-A-C not specified Uncertain significance (Nov 10, 2024)3450357
15-42651010-C-T STARD9-related disorder Likely benign (Jul 19, 2019)3050407
15-42652566-G-A not specified Uncertain significance (Sep 26, 2024)3450386
15-42652570-T-G not specified Uncertain significance (Apr 12, 2023)2536261
15-42652576-C-A not specified Uncertain significance (Mar 29, 2023)2530988
15-42652576-C-T not specified Uncertain significance (Oct 27, 2023)3171084
15-42661174-A-G Likely benign (Nov 01, 2022)718236
15-42661176-C-T not specified Uncertain significance (Feb 28, 2023)2490510

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
STARD9protein_codingprotein_codingENST00000290607 33145323
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.03e-381.0000000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.5020492.39e+30.8560.00012330591
Missense in Polyphen431534.850.805837628
Synonymous3.478019360.8560.00004929443
Loss of Function5.73921730.5310.000009292105

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

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