DNMBP
Basic information
Region (hg38): 10:99875577-100009947
Links
Phenotypes
GenCC
Source:
- cataract 48 (Strong), mode of inheritance: AR
- total early-onset cataract (Supportive), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Cataract 48 | AR | General | 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 | Ophthalmologic | 30290152 |
ClinVar
This is a list of variants' phenotypes submitted to
- Cataract 48 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNMBP 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 | 13 | 21 | ||||
missense | 89 | 12 | 109 | |||
nonsense | 2 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | 2 | |||
non coding | 12 | |||||
Total | 1 | 1 | 91 | 22 | 30 |
Highest pathogenic variant AF is 0.00000658
Variants in DNMBP
This is a list of pathogenic ClinVar variants found in the DNMBP region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-99877141-C-G | DNMBP-related disorder | Benign (Feb 18, 2019) | ||
10-99877145-G-A | DNMBP-related disorder | Likely benign (Mar 28, 2019) | ||
10-99877160-C-T | DNMBP-related disorder | Benign (Feb 21, 2019) | ||
10-99877204-C-G | not specified | Uncertain significance (Aug 23, 2021) | ||
10-99877205-G-T | not specified | Uncertain significance (Apr 30, 2024) | ||
10-99877247-T-A | not specified | Uncertain significance (Apr 08, 2022) | ||
10-99877297-T-C | not specified | Uncertain significance (Dec 05, 2022) | ||
10-99879821-T-C | not specified | Uncertain significance (Aug 17, 2021) | ||
10-99879859-C-T | DNMBP-related disorder | Benign (Apr 09, 2019) | ||
10-99879891-C-T | not specified | Uncertain significance (Nov 12, 2021) | ||
10-99879911-T-C | DNMBP-related disorder | Likely benign (Jun 25, 2019) | ||
10-99879914-C-T | not specified | Uncertain significance (Jun 01, 2023) | ||
10-99879924-C-T | not specified | Uncertain significance (Oct 25, 2022) | ||
10-99879925-G-A | DNMBP-related disorder | Benign (Apr 05, 2019) | ||
10-99879971-G-A | not specified | Likely benign (Aug 02, 2023) | ||
10-99880001-G-A | not specified | Uncertain significance (Aug 04, 2023) | ||
10-99880005-C-G | not specified | Uncertain significance (Feb 05, 2024) | ||
10-99880039-G-A | Cataract 48 • DNMBP-related disorder | Benign (Jul 30, 2021) | ||
10-99880058-C-T | not specified | Uncertain significance (Dec 20, 2022) | ||
10-99880120-A-C | Cataract 48 • DNMBP-related disorder | Benign (Jul 30, 2021) | ||
10-99880232-C-T | not specified | Uncertain significance (Mar 08, 2024) | ||
10-99880258-G-A | DNMBP-related disorder | Likely benign (Jun 07, 2019) | ||
10-99880299-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
10-99880301-G-C | not specified | Uncertain significance (Oct 05, 2023) | ||
10-99880314-G-C | not specified | Uncertain significance (Aug 17, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DNMBP | protein_coding | protein_coding | ENST00000324109 | 16 | 134343 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.72e-17 | 1.00 | 125627 | 0 | 121 | 125748 | 0.000481 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.651 | 821 | 875 | 0.938 | 0.0000503 | 10288 |
Missense in Polyphen | 304 | 340.9 | 0.89176 | 4071 | ||
Synonymous | 1.18 | 322 | 350 | 0.920 | 0.0000206 | 3151 |
Loss of Function | 3.47 | 38 | 69.1 | 0.550 | 0.00000405 | 779 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00116 | 0.00116 |
Ashkenazi Jewish | 0.0000993 | 0.0000992 |
East Asian | 0.000490 | 0.000489 |
Finnish | 0.000139 | 0.0000924 |
European (Non-Finnish) | 0.000458 | 0.000457 |
Middle Eastern | 0.000490 | 0.000489 |
South Asian | 0.000915 | 0.000686 |
Other | 0.000987 | 0.000978 |
dbNSFP
Source:
- Function
- FUNCTION: Scaffold protein that links dynamin with actin- regulating proteins. May play a role in membrane trafficking between the cell surface and the Golgi (By similarity). {ECO:0000250}.;
- Pathway
- Regulation of CDC42 activity
(Consensus)
Recessive Scores
- pRec
- 0.143
Intolerance Scores
- loftool
- 0.893
- rvis_EVS
- -0.47
- rvis_percentile_EVS
- 23.26
Haploinsufficiency Scores
- pHI
- 0.161
- hipred
- Y
- hipred_score
- 0.637
- ghis
- 0.500
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.859
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dnmbp
- Phenotype
Zebrafish Information Network
- Gene name
- dnmbp
- Affected structure
- renal glomerulus
- Phenotype tag
- abnormal
- Phenotype quality
- distended
Gene ontology
- Biological process
- aging;regulation of Rho protein signal transduction;intracellular signal transduction
- Cellular component
- Golgi stack;cytoskeleton;cell junction;synapse
- Molecular function
- Rho guanyl-nucleotide exchange factor activity;protein binding