DRC3
Basic information
Region (hg38): 17:17972813-18016889
Previous symbols: [ "LRRC48" ]
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 DRC3 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 | 30 | 34 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 1 | |||||
Total | 0 | 0 | 30 | 6 | 0 |
Variants in DRC3
This is a list of pathogenic ClinVar variants found in the DRC3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-17977619-G-T | Likely benign (Apr 01, 2023) | |||
17-17977644-G-C | not specified | Uncertain significance (Sep 04, 2024) | ||
17-17977662-G-A | not specified | Uncertain significance (Feb 27, 2024) | ||
17-17983828-A-G | not specified | Uncertain significance (Nov 14, 2023) | ||
17-17983830-A-G | not specified | Uncertain significance (Dec 27, 2023) | ||
17-17983839-A-G | not specified | Uncertain significance (Jul 02, 2024) | ||
17-17983872-A-G | Likely benign (Jan 01, 2023) | |||
17-17983912-G-T | not specified | Uncertain significance (Sep 22, 2023) | ||
17-17983935-G-C | not specified | Uncertain significance (Feb 23, 2023) | ||
17-17987958-A-G | not specified | Uncertain significance (Aug 23, 2021) | ||
17-17988013-G-A | not specified | Uncertain significance (Oct 03, 2022) | ||
17-17988045-G-A | not specified | Uncertain significance (Jan 31, 2023) | ||
17-17988070-G-A | not specified | Uncertain significance (Jul 06, 2021) | ||
17-17992834-G-A | not specified | Uncertain significance (Jun 02, 2024) | ||
17-17992851-C-A | not specified | Uncertain significance (Jul 30, 2024) | ||
17-17992894-C-T | not specified | Uncertain significance (Feb 05, 2024) | ||
17-17992895-G-A | not specified | Uncertain significance (Jul 27, 2022) | ||
17-17994359-C-G | not specified | Uncertain significance (Jun 13, 2022) | ||
17-17994368-G-A | not specified | Uncertain significance (Jan 29, 2024) | ||
17-17994379-G-C | not specified | Uncertain significance (Nov 23, 2021) | ||
17-17994390-C-T | not specified | Uncertain significance (Sep 26, 2023) | ||
17-17994395-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
17-17995027-C-T | not specified | Uncertain significance (Aug 22, 2023) | ||
17-17995053-G-A | not specified | Uncertain significance (Dec 07, 2024) | ||
17-17997528-G-A | not specified | Uncertain significance (Aug 12, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DRC3 | protein_coding | protein_coding | ENST00000313838 | 12 | 44077 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.50e-9 | 0.707 | 124610 | 0 | 45 | 124655 | 0.000181 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.222 | 304 | 315 | 0.965 | 0.0000193 | 3504 |
Missense in Polyphen | 56 | 70.047 | 0.79946 | 827 | ||
Synonymous | 0.329 | 134 | 139 | 0.965 | 0.00000945 | 937 |
Loss of Function | 1.40 | 17 | 24.5 | 0.694 | 0.00000127 | 278 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000560 | 0.000558 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000171 | 0.000167 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000211 | 0.000204 |
Middle Eastern | 0.000171 | 0.000167 |
South Asian | 0.000167 | 0.000163 |
Other | 0.000174 | 0.000165 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. {ECO:0000250|UniProtKB:A8IVX2}.;
Intolerance Scores
- loftool
- rvis_EVS
- 0.56
- rvis_percentile_EVS
- 81.63
Haploinsufficiency Scores
- pHI
- 0.108
- hipred
- N
- hipred_score
- 0.231
- ghis
- 0.468
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Drc3
- Phenotype
- craniofacial 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); skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- Cellular component
- cytoplasm;axoneme;motile cilium
- Molecular function