ARHGDIG
Basic information
Region (hg38): 16:280449-283010
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 ARHGDIG 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 | 17 | 19 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 17 | 2 | 1 |
Variants in ARHGDIG
This is a list of pathogenic ClinVar variants found in the ARHGDIG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-280697-C-G | not specified | Uncertain significance (Dec 09, 2023) | ||
16-280702-G-A | not specified | Uncertain significance (May 26, 2023) | ||
16-281760-A-G | not specified | Uncertain significance (Sep 27, 2021) | ||
16-281777-G-A | Benign (Dec 31, 2019) | |||
16-281787-G-A | not specified | Uncertain significance (Nov 17, 2022) | ||
16-281799-G-A | not specified | Uncertain significance (May 26, 2022) | ||
16-281867-C-A | not specified | Likely benign (Oct 22, 2021) | ||
16-281917-C-T | not specified | Uncertain significance (Jun 12, 2023) | ||
16-282070-C-T | not specified | Uncertain significance (May 20, 2024) | ||
16-282082-C-T | not specified | Uncertain significance (Jan 08, 2024) | ||
16-282093-G-A | not specified | Uncertain significance (Sep 20, 2023) | ||
16-282106-C-G | not specified | Uncertain significance (Feb 07, 2023) | ||
16-282500-C-G | not specified | Uncertain significance (Feb 26, 2024) | ||
16-282519-G-A | not specified | Uncertain significance (Aug 04, 2021) | ||
16-282615-T-C | not specified | Uncertain significance (Dec 16, 2022) | ||
16-282655-C-G | not specified | Likely benign (Aug 09, 2021) | ||
16-282660-A-G | not specified | Uncertain significance (Oct 26, 2022) | ||
16-282663-A-C | not specified | Uncertain significance (Oct 26, 2021) | ||
16-282705-C-T | not specified | Uncertain significance (Jun 02, 2024) | ||
16-282714-G-A | not specified | Uncertain significance (Nov 03, 2023) | ||
16-282732-T-C | not specified | Uncertain significance (Mar 07, 2024) | ||
16-282782-G-A | not specified | Uncertain significance (Aug 14, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ARHGDIG | protein_coding | protein_coding | ENST00000219409 | 6 | 14278 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.922 | 0.0780 | 125506 | 0 | 4 | 125510 | 0.0000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.00349 | 128 | 128 | 0.999 | 0.00000826 | 1405 |
Missense in Polyphen | 34 | 46.911 | 0.72477 | 610 | ||
Synonymous | -2.59 | 87 | 61.2 | 1.42 | 0.00000431 | 473 |
Loss of Function | 2.65 | 0 | 8.15 | 0.00 | 3.47e-7 | 112 |
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) | 0.0000273 | 0.0000265 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000328 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post- translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP.;
- Pathway
- Neurotrophin signaling pathway - Homo sapiens (human);Vasopressin-regulated water reabsorption - Homo sapiens (human);Ectoderm Differentiation;G13 Signaling Pathway;Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases;Regulation of RhoA activity
(Consensus)
Recessive Scores
- pRec
- 0.122
Intolerance Scores
- loftool
- 0.0871
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.91
Haploinsufficiency Scores
- pHI
- 0.147
- hipred
- Y
- hipred_score
- 0.523
- ghis
- 0.574
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.850
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Arhgdig
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- blastocyst hatching;negative regulation of cell adhesion;Rho protein signal transduction;regulation of protein localization;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
- Cellular component
- cytosol;plasma membrane;membrane;cytoplasmic vesicle
- Molecular function
- Rho GDP-dissociation inhibitor activity;GTPase activator activity;protein binding;Rac GTPase binding