GULP1

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

Basic information

Region (hg38): 2:188291668-188595931

Links

ENSG00000144366 ∙ NCBI:51454 ∙ OMIM:608165 ∙ HGNC:18649 ∙ Uniprot:Q9UBP9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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			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: gnomAD

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: 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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gulp1

Gene ontology

• Biological process: lipid transport;phagocytosis, engulfment;apoptotic process
• Cellular component: cytoplasm