RAB3IP
Basic information
Region (hg38): 12:69738859-69823204
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (22 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB3IP 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 | 0 | |||||
missense | 22 | 22 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 0 | 0 | 22 | 0 | 0 |
Variants in RAB3IP
This is a list of pathogenic ClinVar variants found in the RAB3IP region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-69755384-G-A | not specified | Likely benign (Feb 28, 2024) | ||
12-69755509-C-T | not specified | Likely benign (Mar 04, 2024) | ||
12-69755521-G-A | not specified | Uncertain significance (Jan 03, 2024) | ||
12-69755641-C-T | not specified | Uncertain significance (Dec 07, 2021) | ||
12-69755649-T-C | not specified | Uncertain significance (Aug 03, 2022) | ||
12-69756422-C-T | not specified | Uncertain significance (Dec 02, 2022) | ||
12-69756434-C-T | not specified | Uncertain significance (Sep 17, 2021) | ||
12-69756446-T-A | not specified | Uncertain significance (Feb 01, 2023) | ||
12-69756584-G-A | not specified | Uncertain significance (Jun 06, 2023) | ||
12-69756617-A-G | not specified | Uncertain significance (Oct 26, 2021) | ||
12-69784766-G-A | not specified | Uncertain significance (Feb 23, 2023) | ||
12-69794440-G-A | not specified | Uncertain significance (Oct 18, 2021) | ||
12-69794455-A-G | not specified | Uncertain significance (Jun 01, 2023) | ||
12-69794468-T-C | not specified | Uncertain significance (Feb 28, 2023) | ||
12-69795302-G-T | not specified | Uncertain significance (Feb 01, 2023) | ||
12-69795309-A-G | not specified | Uncertain significance (Jul 12, 2023) | ||
12-69795337-G-A | not specified | Uncertain significance (Aug 02, 2021) | ||
12-69800237-G-A | not specified | Uncertain significance (Jun 07, 2023) | ||
12-69800333-G-T | not specified | Uncertain significance (Nov 21, 2022) | ||
12-69801648-C-G | not specified | Uncertain significance (Jan 10, 2023) | ||
12-69801681-C-T | not specified | Uncertain significance (Apr 28, 2022) | ||
12-69801696-T-G | not specified | Uncertain significance (Aug 04, 2023) | ||
12-69812855-T-G | not specified | Uncertain significance (Jul 26, 2021) | ||
12-69812970-T-C | not specified | Uncertain significance (Jul 20, 2021) | ||
12-69813026-G-C | not specified | Uncertain significance (Mar 29, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RAB3IP | protein_coding | protein_coding | ENST00000550536 | 11 | 84524 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.67e-8 | 0.960 | 125705 | 0 | 42 | 125747 | 0.000167 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.670 | 219 | 249 | 0.880 | 0.0000124 | 3093 |
Missense in Polyphen | 46 | 90.504 | 0.50826 | 1191 | ||
Synonymous | -1.44 | 108 | 90.6 | 1.19 | 0.00000463 | 893 |
Loss of Function | 2.03 | 17 | 28.7 | 0.592 | 0.00000164 | 347 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000233 | 0.000233 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000286 | 0.000272 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000196 | 0.000193 |
Middle Eastern | 0.000286 | 0.000272 |
South Asian | 0.000164 | 0.000163 |
Other | 0.000328 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form. Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5. Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface. Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis. {ECO:0000269|PubMed:12221131, ECO:0000269|PubMed:20890297, ECO:0000269|PubMed:20937701}.;
- Pathway
- Vesicle-mediated transport;Membrane Trafficking;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs;Anchoring of the basal body to the plasma membrane;VxPx cargo-targeting to cilium;BBSome-mediated cargo-targeting to cilium;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance
(Consensus)
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- loftool
- 0.328
- rvis_EVS
- -0.49
- rvis_percentile_EVS
- 22.36
Haploinsufficiency Scores
- pHI
- 0.0597
- hipred
- N
- hipred_score
- 0.369
- ghis
- 0.608
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.732
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rab3ip
- Phenotype
- homeostasis/metabolism phenotype; skeleton 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); normal phenotype;
Zebrafish Information Network
- Gene name
- rab3ip
- Affected structure
- Kupffer's vesicle
- Phenotype tag
- abnormal
- Phenotype quality
- morphology
Gene ontology
- Biological process
- protein targeting to membrane;ciliary basal body-plasma membrane docking
- Cellular component
- nucleus;cytosol;cytoskeleton;lamellipodium
- Molecular function
- protein binding;Rab guanyl-nucleotide exchange factor activity