DNAH12
Basic information
Region (hg38): 3:57293699-57544344
Previous symbols: [ "DNHD2", "DNAH12L", "DNAH7L" ]
Links
Phenotypes
GenCC
Source:
- oligoasthenoteratozoospermia (Limited), mode of inheritance: AR
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (349 variants)
- not_provided (5 variants)
- SPERMATOGENIC_FAILURE_100 (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001366028.2. Only rare variants are included in the table.
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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 3 | |||||
missense | 341 | 350 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 2 | 0 | 341 | 10 | 1 |
Highest pathogenic variant AF is 0.0000122806
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DNAH12 | protein_coding | protein_coding | ENST00000311202 | 11 | 202345 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
9.09e-10 | 0.489 | 125675 | 0 | 70 | 125745 | 0.000278 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.618 | 200 | 226 | 0.884 | 0.0000105 | 2993 |
Missense in Polyphen | 31 | 37.033 | 0.8371 | 536 | ||
Synonymous | 0.642 | 73 | 80.3 | 0.909 | 0.00000410 | 826 |
Loss of Function | 1.12 | 17 | 22.8 | 0.747 | 0.00000106 | 318 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00100 | 0.000993 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000725 | 0.000707 |
Finnish | 0.000474 | 0.000462 |
European (Non-Finnish) | 0.000156 | 0.000149 |
Middle Eastern | 0.000725 | 0.000707 |
South Asian | 0.000392 | 0.000392 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). {ECO:0000250}.;
- Pathway
- Huntington,s disease - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.0998
Intolerance Scores
- loftool
- 0.956
- rvis_EVS
- 0.84
- rvis_percentile_EVS
- 88.36
Haploinsufficiency Scores
- pHI
- 0.409
- hipred
- N
- hipred_score
- 0.203
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.249
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Dnah12
- Phenotype
Gene ontology
- Biological process
- microtubule-based movement
- Cellular component
- cytoplasm;microtubule;cilium;dynein complex
- Molecular function
- microtubule motor activity;ATP binding