DYNLL1
dynein light chain LC8-type 1, the group of Dyneins, axonemal inner arm I1/f complex subunits|Dyneins, axonemal outer arm complex subunits|Dynein 1 complex subunits|Dynein 2 complex subunits
Basic information
Region (hg38): 12:120469849-120498493
Previous symbols: [ "DNCL1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 DYNLL1 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 | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DYNLL1 | protein_coding | protein_coding | ENST00000392509 | 2 | 28644 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.698 | 0.286 | 125670 | 0 | 1 | 125671 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.01 | 9 | 48.4 | 0.186 | 0.00000226 | 597 |
| Missense in Polyphen | 2 | 5.2126 | 0.38369 | 83 | ||
| Synonymous | -0.808 | 23 | 18.6 | 1.24 | 9.67e-7 | 153 |
| Loss of Function | 1.84 | 0 | 3.93 | 0.00 | 1.68e-7 | 48 |
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 | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures.; FUNCTION: Promotes transactivation functions of ESR1 and plays a role in the nuclear localization of ESR1.;
- Pathway
- Vasopressin-regulated water reabsorption - Homo sapiens (human);Neutrophil degranulation;Signal Transduction;Vesicle-mediated transport;lissencephaly gene (lis1) in neuronal migration and development;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Activation of BIM and translocation to mitochondria ;Activation of BH3-only proteins;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Intrinsic Pathway for Apoptosis;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;Innate Immune System;Immune System;Apoptosis;Programmed Cell Death;RHO GTPases Activate Formins;Macroautophagy;Cellular responses to external stimuli;RHO GTPase Effectors;Signaling by Rho GTPases;Regulation of PLK1 Activity at G2/M Transition;EGFR1;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;Recruitment of mitotic centrosome proteins and complexes;Loss of Nlp from mitotic centrosomes;Loss of proteins required for interphase microtubule organization from the centrosome;Centrosome maturation;AURKA Activation by TPX2;G2/M Transition;Mitotic G2-G2/M phases;COPI-independent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;COPI-mediated anterograde transport;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;ER to Golgi Anterograde Transport;Cell Cycle, Mitotic;Anchoring of the basal body to the plasma membrane;Intra-Golgi and retrograde Golgi-to-ER traffic;Intraflagellar transport;Cilium Assembly;Organelle biogenesis and maintenance
(Consensus)
Recessive Scores
- pRec
- 0.0951
Intolerance Scores
- loftool
- 0.270
- rvis_EVS
- 0.12
- rvis_percentile_EVS
- 62.38
Haploinsufficiency Scores
- pHI
- 0.0956
- hipred
- Y
- hipred_score
- 0.800
- ghis
- 0.532
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.824
Mouse Genome Informatics
- Gene name
- Dynll1
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; respiratory system phenotype; immune system 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); digestive/alimentary phenotype; vision/eye 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); normal phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); neoplasm; embryo phenotype;
Gene ontology
- Biological process
- G2/M transition of mitotic cell cycle;endoplasmic reticulum to Golgi vesicle-mediated transport;apoptotic process;spermatid development;regulation of G2/M transition of mitotic cell cycle;viral process;macroautophagy;antigen processing and presentation of exogenous peptide antigen via MHC class II;substantia nigra development;intraciliary retrograde transport;intraciliary transport involved in cilium assembly;positive regulation of insulin secretion involved in cellular response to glucose stimulus;negative regulation of phosphorylation;neutrophil degranulation;motile cilium assembly;ciliary basal body-plasma membrane docking;positive regulation of non-motile cilium assembly;positive regulation of ATP-dependent microtubule motor activity, plus-end-directed
- Cellular component
- kinetochore;nucleus;cytoplasm;mitochondrion;centrosome;cytosol;cytoplasmic dynein complex;microtubule;plasma membrane;cilium;COP9 signalosome;membrane;dynein complex;tertiary granule membrane;mitotic spindle;ciliary tip;ficolin-1-rich granule membrane;axon cytoplasm
- Molecular function
- protein binding;protein C-terminus binding;ATP-dependent microtubule motor activity, plus-end-directed;enzyme binding;protein domain specific binding;nitric-oxide synthase regulator activity;protein homodimerization activity;dynein intermediate chain binding;protein heterodimerization activity;dynein light intermediate chain binding;scaffold protein binding