DYNC2I2
Basic information
Region (hg38): 9:128633653-128656847
Previous symbols: [ "WDR34" ]
Links
Phenotypes
GenCC
Source:
- short-rib thoracic dysplasia 11 with or without polydactyly (Moderate), mode of inheritance: AR
- Jeune syndrome (Supportive), mode of inheritance: AR
- short rib-polydactyly syndrome, Verma-Naumoff type (Supportive), mode of inheritance: AR
- short-rib thoracic dysplasia 11 with or without polydactyly (Strong), mode of inheritance: AR
- short-rib thoracic dysplasia 11 with or without polydactyly (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Short -rib thoracic dysplasia 11 with or without polydactyly | AR | General | Genetic knowledge may potentially be beneficial related to manifestations such as renal issues; Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Musculoskeletal; Ophthalmologic; Renal | 24183449; 24183451 |
ClinVar
This is a list of variants' phenotypes submitted to
- Short-rib thoracic dysplasia 11 with or without polydactyly (21 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DYNC2I2 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 | 119 | 10 | 130 | |||
missense | 208 | 221 | ||||
nonsense | 4 | |||||
start loss | 0 | |||||
frameshift | 16 | 20 | ||||
inframe indel | 3 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
splice region | 11 | 14 | 1 | 26 | ||
non coding | 64 | 74 | ||||
Total | 21 | 9 | 213 | 189 | 22 |
Highest pathogenic variant AF is 0.0000526
Variants in DYNC2I2
This is a list of pathogenic ClinVar variants found in the DYNC2I2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-128633736-G-A | DYNC2I2-related disorder | Likely benign (Feb 22, 2019) | ||
9-128633739-A-C | Benign (Jul 14, 2018) | |||
9-128633748-G-A | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Dec 25, 2021) | ||
9-128633750-C-T | Short-rib thoracic dysplasia 11 with or without polydactyly | Likely benign (Dec 27, 2023) | ||
9-128633751-G-A | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Nov 01, 2022) | ||
9-128633755-C-T | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Aug 08, 2022) | ||
9-128633772-TCCAGGTCCTCAGCTTC-T | Jeune thoracic dystrophy | Pathogenic/Likely pathogenic (Jun 01, 2017) | ||
9-128633782-C-T | Inborn genetic diseases | Uncertain significance (Mar 28, 2024) | ||
9-128633785-C-T | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Oct 08, 2021) | ||
9-128633786-T-C | Short-rib thoracic dysplasia 11 with or without polydactyly | Likely benign (Nov 15, 2022) | ||
9-128633790-C-T | Short-rib thoracic dysplasia 11 with or without polydactyly • Inborn genetic diseases | Uncertain significance (Oct 03, 2024) | ||
9-128633791-G-A | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Oct 13, 2022) | ||
9-128633791-G-C | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Dec 31, 2021) | ||
9-128633791-G-T | Short-rib thoracic dysplasia 11 with or without polydactyly | Likely benign (Feb 03, 2023) | ||
9-128633793-G-A | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Jul 17, 2021) | ||
9-128633797-C-T | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Mar 21, 2022) | ||
9-128633804-C-T | Short-rib thoracic dysplasia 11 with or without polydactyly • Inborn genetic diseases | Benign/Likely benign (Feb 13, 2024) | ||
9-128633805-G-A | Short-rib thoracic dysplasia 11 with or without polydactyly • Inborn genetic diseases | Uncertain significance (Jun 05, 2023) | ||
9-128633812-CTG-C | Short-rib thoracic dysplasia 11 with or without polydactyly | Pathogenic (Nov 07, 2013) | ||
9-128633814-G-A | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Nov 22, 2022) | ||
9-128633819-C-T | Short-rib thoracic dysplasia 11 with or without polydactyly | Likely benign (Mar 19, 2022) | ||
9-128633824-G-A | Short-rib thoracic dysplasia 11 with or without polydactyly | Pathogenic (Dec 07, 2022) | ||
9-128633835-A-G | Short-rib thoracic dysplasia 11 with or without polydactyly | Uncertain significance (Jul 20, 2022) | ||
9-128633839-TGCCCTGG-T | Short-rib thoracic dysplasia 11 with or without polydactyly | Pathogenic (Nov 19, 2022) | ||
9-128633840-G-T | Short-rib thoracic dysplasia 11 with or without polydactyly | Likely benign (May 16, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DYNC2I2 | protein_coding | protein_coding | ENST00000372715 | 9 | 23127 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.73e-7 | 0.867 | 125633 | 0 | 108 | 125741 | 0.000430 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.122 | 325 | 319 | 1.02 | 0.0000199 | 3375 |
Missense in Polyphen | 76 | 72.341 | 1.0506 | 802 | ||
Synonymous | -1.98 | 179 | 148 | 1.21 | 0.0000103 | 1132 |
Loss of Function | 1.59 | 14 | 22.0 | 0.635 | 0.00000112 | 220 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000758 | 0.000751 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000387 | 0.000381 |
Finnish | 0.000517 | 0.000508 |
European (Non-Finnish) | 0.000490 | 0.000484 |
Middle Eastern | 0.000387 | 0.000381 |
South Asian | 0.000436 | 0.000425 |
Other | 0.000657 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation. {ECO:0000269|PubMed:19521662, ECO:0000269|PubMed:24183449}.;
- Pathway
- Intraflagellar transport;Cilium Assembly;Organelle biogenesis and maintenance
(Consensus)
Recessive Scores
- pRec
- 0.101
Intolerance Scores
- loftool
- 0.779
- rvis_EVS
- -0.66
- rvis_percentile_EVS
- 15.91
Haploinsufficiency Scores
- pHI
- 0.123
- hipred
- N
- hipred_score
- 0.177
- ghis
- 0.564
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.601
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Wdr34
- Phenotype
Zebrafish Information Network
- Gene name
- wdr34
- Affected structure
- photoreceptor cell
- Phenotype tag
- abnormal
- Phenotype quality
- swollen
Gene ontology
- Biological process
- microtubule-based movement;intraciliary transport involved in cilium assembly;intraciliary transport;cilium assembly
- Cellular component
- centriole;cytosol;cytoplasmic dynein complex;cilium;axoneme;dynein complex;ciliary basal body;ciliary plasm;ciliary tip
- Molecular function
- protein binding;ATP-dependent microtubule motor activity, plus-end-directed;dynein light chain binding;dynein heavy chain binding