GULP1

GULP PTB domain containing engulfment adaptor 1, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 2:188291669-188595931

Links

ENSG00000144366NCBI:51454OMIM:608165HGNC:18649Uniprot:Q9UBP9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GULP1 gene.

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
clinvar
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)3103342
2-188529154-A-G not specified Uncertain significance (Jan 11, 2023)2475568
2-188529160-A-G not specified Uncertain significance (Dec 15, 2023)3103340
2-188529184-C-T not specified Uncertain significance (Sep 16, 2021)2250873
2-188529190-A-G not specified Uncertain significance (Mar 21, 2023)2527676
2-188541236-C-G not specified Uncertain significance (Feb 16, 2023)2486233
2-188541316-T-A not specified Uncertain significance (Oct 24, 2023)3103341
2-188584265-G-A not specified Uncertain significance (May 10, 2024)3283186
2-188584310-A-G not specified Uncertain significance (Sep 27, 2021)2406698
2-188584340-T-C not specified Uncertain significance (Aug 22, 2023)2620707
2-188584352-A-G not specified Uncertain significance (Aug 08, 2022)2305930
2-188587887-C-G not specified Uncertain significance (Dec 09, 2023)3103343
2-188587927-A-T not specified Uncertain significance (May 15, 2024)3283187
2-188594004-G-C not specified Uncertain significance (May 25, 2022)2346428

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GULP1protein_codingprotein_codingENST00000409580 10304258
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6870.3131257100101257200.0000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9831221570.7790.000007462010
Missense in Polyphen3458.0380.58582818
Synonymous0.7184753.70.8750.00000277540
Loss of Function3.13316.90.1787.10e-7232

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009280.0000904
Ashkenazi Jewish0.00009930.0000992
East Asian0.00006630.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.00002670.0000264
Middle Eastern0.00006630.0000544
South Asian0.00006910.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gulp1
Phenotype

Gene ontology

Biological process
lipid transport;phagocytosis, engulfment;apoptotic process
Cellular component
cytoplasm
Molecular function