GULP1
Basic information
Region (hg38): 2:188291669-188595931
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 GULP1 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 | 12 | 12 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 12 | 0 | 0 |
Variants in GULP1
This is a list of pathogenic ClinVar variants found in the GULP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-188483451-C-T | not specified | Uncertain significance (Dec 08, 2023) | ||
2-188529154-A-G | not specified | Uncertain significance (Jan 11, 2023) | ||
2-188529160-A-G | not specified | Uncertain significance (Dec 15, 2023) | ||
2-188529184-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
2-188529190-A-G | not specified | Uncertain significance (Mar 21, 2023) | ||
2-188541236-C-G | not specified | Uncertain significance (Feb 16, 2023) | ||
2-188541316-T-A | not specified | Uncertain significance (Oct 24, 2023) | ||
2-188584265-G-A | not specified | Uncertain significance (May 10, 2024) | ||
2-188584310-A-G | not specified | Uncertain significance (Sep 27, 2021) | ||
2-188584340-T-C | not specified | Uncertain significance (Aug 22, 2023) | ||
2-188584352-A-G | not specified | Uncertain significance (Aug 08, 2022) | ||
2-188587887-C-G | not specified | Uncertain significance (Dec 09, 2023) | ||
2-188587927-A-T | not specified | Uncertain significance (May 15, 2024) | ||
2-188594004-G-C | not specified | Uncertain significance (May 25, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GULP1 | protein_coding | protein_coding | ENST00000409580 | 10 | 304258 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.687 | 0.313 | 125710 | 0 | 10 | 125720 | 0.0000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.983 | 122 | 157 | 0.779 | 0.00000746 | 2010 |
Missense in Polyphen | 34 | 58.038 | 0.58582 | 818 | ||
Synonymous | 0.718 | 47 | 53.7 | 0.875 | 0.00000277 | 540 |
Loss of Function | 3.13 | 3 | 16.9 | 0.178 | 7.10e-7 | 232 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000928 | 0.0000904 |
Ashkenazi Jewish | 0.0000993 | 0.0000992 |
East Asian | 0.0000663 | 0.0000544 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000267 | 0.0000264 |
Middle Eastern | 0.0000663 | 0.0000544 |
South Asian | 0.0000691 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6. {ECO:0000269|PubMed:10574763, ECO:0000269|PubMed:10574771, ECO:0000269|PubMed:16497666, ECO:0000269|PubMed:17398097}.;
- Pathway
- Arf6 signaling events
(Consensus)
Recessive Scores
- pRec
- 0.143
Intolerance Scores
- loftool
- 0.384
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 36.86
Haploinsufficiency Scores
- pHI
- 0.493
- hipred
- Y
- hipred_score
- 0.687
- ghis
- 0.569
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 | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gulp1
- Phenotype
Gene ontology
- Biological process
- lipid transport;phagocytosis, engulfment;apoptotic process
- Cellular component
- cytoplasm
- Molecular function