ARHGAP39
Basic information
Region (hg38): 8:144529178-144685846
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 ARHGAP39 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 | 3 | |||||
missense | 71 | 76 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 71 | 6 | 2 |
Variants in ARHGAP39
This is a list of pathogenic ClinVar variants found in the ARHGAP39 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-144530511-C-T | not specified | Uncertain significance (Jul 25, 2023) | ||
8-144530588-A-G | not specified | Uncertain significance (Jun 01, 2022) | ||
8-144530712-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
8-144530724-C-G | not specified | Uncertain significance (May 24, 2023) | ||
8-144530736-C-T | not specified | Uncertain significance (Sep 14, 2023) | ||
8-144530809-C-T | not specified | Uncertain significance (Feb 03, 2022) | ||
8-144532311-C-T | not specified | Uncertain significance (May 10, 2024) | ||
8-144533250-C-T | not specified | Uncertain significance (Jun 11, 2021) | ||
8-144533295-G-A | not specified | Uncertain significance (Nov 22, 2023) | ||
8-144534169-T-C | not specified | Uncertain significance (Jun 26, 2023) | ||
8-144537777-G-C | not specified | Likely benign (Jul 14, 2021) | ||
8-144545316-G-A | Benign (Mar 27, 2018) | |||
8-144545362-C-A | not specified | Uncertain significance (Aug 11, 2022) | ||
8-144545390-C-T | not specified | Uncertain significance (May 03, 2023) | ||
8-144545434-C-G | not specified | Uncertain significance (Jun 27, 2023) | ||
8-144545441-C-T | not specified | Uncertain significance (Sep 22, 2021) | ||
8-144545497-C-T | not specified | Uncertain significance (May 20, 2024) | ||
8-144545558-G-T | not specified | Uncertain significance (Mar 30, 2024) | ||
8-144545566-C-T | not specified | Uncertain significance (Mar 30, 2024) | ||
8-144545573-C-T | not specified | Uncertain significance (Mar 30, 2024) | ||
8-144545671-T-C | not specified | Uncertain significance (Sep 14, 2022) | ||
8-144545740-C-T | not specified | Uncertain significance (Sep 01, 2021) | ||
8-144545753-C-T | not specified | Likely benign (Jun 23, 2023) | ||
8-144545759-T-C | not specified | Uncertain significance (Jan 24, 2024) | ||
8-144545780-C-T | not specified | Uncertain significance (Mar 06, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ARHGAP39 | protein_coding | protein_coding | ENST00000377307 | 11 | 156632 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00819 | 0.992 | 125677 | 0 | 64 | 125741 | 0.000255 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.52 | 534 | 725 | 0.736 | 0.0000494 | 7132 |
Missense in Polyphen | 147 | 256.22 | 0.57372 | 2490 | ||
Synonymous | -0.956 | 360 | 338 | 1.07 | 0.0000259 | 2223 |
Loss of Function | 4.51 | 13 | 46.0 | 0.282 | 0.00000213 | 494 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000867 | 0.0000867 |
Ashkenazi Jewish | 0.000505 | 0.000496 |
East Asian | 0.00104 | 0.00103 |
Finnish | 0.0000924 | 0.0000924 |
European (Non-Finnish) | 0.000162 | 0.000158 |
Middle Eastern | 0.00104 | 0.00103 |
South Asian | 0.000527 | 0.000523 |
Other | 0.000169 | 0.000163 |
dbNSFP
Source:
- Pathway
- Developmental Biology;Signal Transduction;Rho GTPase cycle;Inactivation of CDC42 and RAC1;Signaling by Rho GTPases;Signaling by ROBO receptors;Axon guidance
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- -1.39
- rvis_percentile_EVS
- 4.31
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.563
- ghis
- 0.591
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.231
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Arhgap39
- Phenotype
Gene ontology
- Biological process
- signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction;postsynapse organization
- Cellular component
- nucleus;cytoplasm;cytosol;cytoskeleton;glutamatergic synapse
- Molecular function
- GTPase activator activity