DDX60L
Basic information
Region (hg38): 4:168356735-168537786
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 DDX60L 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 | 90 | 98 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 90 | 9 | 0 |
Variants in DDX60L
This is a list of pathogenic ClinVar variants found in the DDX60L region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
4-168358152-C-T | not specified | Likely benign (Feb 06, 2023) | ||
4-168358158-G-T | not specified | Uncertain significance (Mar 29, 2022) | ||
4-168358162-T-G | not specified | Uncertain significance (Mar 31, 2024) | ||
4-168358221-T-C | not specified | Likely benign (Sep 16, 2021) | ||
4-168358274-T-A | not specified | Likely benign (Aug 19, 2023) | ||
4-168361164-T-C | not specified | Uncertain significance (Mar 20, 2023) | ||
4-168361209-A-G | not specified | Uncertain significance (Jun 12, 2023) | ||
4-168371670-C-T | not specified | Uncertain significance (Aug 15, 2023) | ||
4-168371681-A-G | not specified | Uncertain significance (Mar 31, 2023) | ||
4-168371732-G-C | not specified | Uncertain significance (Nov 14, 2023) | ||
4-168371742-C-T | not specified | Likely benign (Jan 03, 2024) | ||
4-168371745-C-T | not specified | Uncertain significance (Apr 28, 2023) | ||
4-168371760-T-A | not specified | Uncertain significance (Mar 14, 2023) | ||
4-168373699-A-T | not specified | Uncertain significance (May 11, 2022) | ||
4-168373712-G-A | not specified | Uncertain significance (Oct 19, 2024) | ||
4-168373776-G-T | not specified | Uncertain significance (Feb 27, 2024) | ||
4-168373802-G-A | not specified | Uncertain significance (Oct 29, 2024) | ||
4-168375436-A-G | not specified | Uncertain significance (Jan 19, 2024) | ||
4-168375471-G-C | not specified | Uncertain significance (Sep 27, 2024) | ||
4-168375484-A-G | not specified | Uncertain significance (Dec 10, 2024) | ||
4-168375485-A-C | not specified | Uncertain significance (Feb 26, 2024) | ||
4-168375491-C-T | not specified | Uncertain significance (Mar 18, 2024) | ||
4-168375509-G-C | not specified | Uncertain significance (Jun 03, 2022) | ||
4-168378413-C-T | not specified | Uncertain significance (Aug 22, 2023) | ||
4-168378475-C-A | not specified | Uncertain significance (Jan 26, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DDX60L | protein_coding | protein_coding | ENST00000260184 | 37 | 181052 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.07e-38 | 0.000997 | 125322 | 2 | 424 | 125748 | 0.00170 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.114 | 776 | 785 | 0.989 | 0.0000393 | 11171 |
Missense in Polyphen | 205 | 217.27 | 0.94351 | 3078 | ||
Synonymous | -0.434 | 302 | 293 | 1.03 | 0.0000157 | 3025 |
Loss of Function | 1.50 | 67 | 81.7 | 0.820 | 0.00000413 | 1194 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00792 | 0.00776 |
Ashkenazi Jewish | 0.00845 | 0.00837 |
East Asian | 0.000390 | 0.000381 |
Finnish | 0.0000477 | 0.0000462 |
European (Non-Finnish) | 0.00129 | 0.00127 |
Middle Eastern | 0.000390 | 0.000381 |
South Asian | 0.000745 | 0.000719 |
Other | 0.00299 | 0.00294 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.0727
Intolerance Scores
- loftool
- rvis_EVS
- 2.62
- rvis_percentile_EVS
- 98.78
Haploinsufficiency Scores
- pHI
- 0.0716
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.422
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.129
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Gene ontology
- Biological process
- Cellular component
- Molecular function
- RNA binding;helicase activity;ATP binding