GDI1
Basic information
Region (hg38): X:154436913-154443467
Previous symbols: [ "MRX48", "MRX41", "GDIL" ]
Links
Phenotypes
GenCC
Source:
- intellectual disability, X-linked 41 (Definitive), mode of inheritance: XLR
- non-syndromic X-linked intellectual disability (Supportive), mode of inheritance: XL
- intellectual disability, X-linked 41 (Limited), mode of inheritance: XL
- intellectual disability, X-linked 41 (Strong), mode of inheritance: XL
- intellectual disability, X-linked 41 (Moderate), mode of inheritance: XL
- non-syndromic X-linked intellectual disability (Moderate), mode of inheritance: XL
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Intellectual developmental disorder, X-linked 41 | XL | 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 | Neurologic | 8826463; 9106537; 9668174; 9620768; 22002931 |
ClinVar
This is a list of variants' phenotypes submitted to
- Intellectual disability, X-linked 41 (2 variants)
- Intellectual disability (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GDI1 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 | 19 | 24 | ||||
missense | 35 | 40 | ||||
nonsense | 2 | |||||
start loss | 0 | |||||
frameshift | 3 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
splice region | 3 | 3 | 2 | 8 | ||
non coding | 4 | |||||
Total | 2 | 7 | 40 | 23 | 4 |
Variants in GDI1
This is a list of pathogenic ClinVar variants found in the GDI1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-154437141-C-T | Likely benign (Feb 01, 2024) | |||
X-154437276-A-G | Inborn genetic diseases | Uncertain significance (Jun 02, 2024) | ||
X-154437278-C-A | not specified | Likely benign (Oct 16, 2024) | ||
X-154437300-G-A | Intellectual disability, X-linked 41 | Likely pathogenic (Jan 03, 2022) | ||
X-154438512-C-A | Likely benign (Jan 02, 2017) | |||
X-154438571-C-T | Uncertain significance (Nov 17, 2023) | |||
X-154438579-C-T | Likely benign (Oct 01, 2023) | |||
X-154438580-C-T | Uncertain significance (Jun 16, 2020) | |||
X-154438594-C-T | Uncertain significance (Apr 01, 2017) | |||
X-154438596-G-T | Uncertain significance (Feb 13, 2020) | |||
X-154438607-T-G | Inborn genetic diseases | Uncertain significance (Jan 30, 2024) | ||
X-154438762-C-T | not specified • Inborn genetic diseases • GDI1-related disorder | Benign (Dec 31, 2019) | ||
X-154438767-G-C | Likely benign (Sep 01, 2022) | |||
X-154438787-T-C | not specified | Uncertain significance (Apr 19, 2024) | ||
X-154438804-T-A | not specified • Intellectual disability, X-linked 41;Immunodeficiency 47 | Conflicting classifications of pathogenicity (Sep 20, 2024) | ||
X-154438805-C-T | Uncertain significance (May 08, 2019) | |||
X-154438806-G-T | GDI1-related disorder | Likely benign (Mar 28, 2019) | ||
X-154438808-T-TGGGCCG | Uncertain significance (Apr 11, 2023) | |||
X-154438819-C-T | Intellectual disability, X-linked 41 | Pathogenic (Jun 01, 1998) | ||
X-154438830-T-C | not specified • Intellectual disability, X-linked 41 • Inborn genetic diseases | Benign (Aug 10, 2021) | ||
X-154438837-C-G | Uncertain significance (Mar 18, 2024) | |||
X-154439003-C-T | Inborn genetic diseases | Uncertain significance (Aug 04, 2023) | ||
X-154439027-T-C | Intellectual disability, X-linked 41 • not specified | Uncertain significance (Nov 18, 2021) | ||
X-154439047-T-C | Intellectual disability, X-linked 41 | Uncertain significance (Jan 26, 2022) | ||
X-154439054-A-G | Uncertain significance (Nov 27, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GDI1 | protein_coding | protein_coding | ENST00000447750 | 11 | 6549 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.995 | 0.00529 | 125536 | 0 | 1 | 125537 | 0.00000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.29 | 70 | 201 | 0.348 | 0.0000180 | 2966 |
Missense in Polyphen | 3 | 67.794 | 0.044252 | 992 | ||
Synonymous | -1.73 | 101 | 81.1 | 1.25 | 0.00000750 | 840 |
Loss of Function | 3.65 | 0 | 15.6 | 0.00 | 0.00000115 | 271 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000722 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.0000722 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes. {ECO:0000269|PubMed:23815289}.;
- Pathway
- Integrated Breast Cancer Pathway;Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Rho GTPase cycle;Signaling by Rho GTPases;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs;Signaling mediated by p38-alpha and p38-beta
(Consensus)
Recessive Scores
- pRec
- 0.184
Intolerance Scores
- loftool
- rvis_EVS
- -0.43
- rvis_percentile_EVS
- 25.15
Haploinsufficiency Scores
- pHI
- 0.277
- hipred
- Y
- hipred_score
- 0.775
- ghis
- 0.572
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.801
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Low | Medium |
Primary Immunodeficiency | Medium | Low | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gdi1
- 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- signal transduction;protein transport;Rab protein signal transduction;positive regulation of GTPase activity;positive regulation of axon extension;negative regulation of axonogenesis;regulation of small GTPase mediated signal transduction;response to calcium ion;negative regulation of protein targeting to membrane
- Cellular component
- cytoplasm;Golgi apparatus;cytosol;axon;midbody;protein-containing complex;neuronal cell body;myelin sheath
- Molecular function
- GDP-dissociation inhibitor activity;Rab GDP-dissociation inhibitor activity;GTPase activator activity;protein binding;Rab GTPase binding