GFY

golgi associated olfactory signaling regulator

Basic information

Region (hg38): 19:49423748-49428987

Links

ENSG00000261949 ∙ NCBI:100507003 ∙ OMIM:618696 ∙ HGNC:44663 ∙ Uniprot:I3L273 ∙ 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 GFY gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GFY 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				1		1
missense			38			38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	1	0

Variants in GFY

This is a list of pathogenic ClinVar variants found in the GFY region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-49426528-T-G		not specified	Uncertain significance (Feb 06, 2024)
19-49426539-G-T		not specified	Uncertain significance (Mar 20, 2024)
19-49426542-C-T		not specified	Uncertain significance (Feb 06, 2023)
19-49426590-C-A			Likely benign (May 01, 2022)
19-49426627-A-T		not specified	Uncertain significance (Feb 28, 2024)
19-49426692-C-T		not specified	Uncertain significance (Dec 14, 2022)
19-49426693-C-T		not specified	Uncertain significance (Dec 01, 2022)
19-49426788-A-G		not specified	Uncertain significance (Mar 20, 2023)
19-49426792-C-A		not specified	Uncertain significance (Oct 10, 2023)
19-49426809-A-G		not specified	Uncertain significance (Aug 15, 2023)
19-49426863-C-T		not specified	Uncertain significance (Dec 02, 2022)
19-49426936-C-T		not specified	Uncertain significance (Oct 04, 2022)
19-49427025-G-A		not specified	Uncertain significance (Feb 17, 2023)
19-49427098-A-G		not specified	Uncertain significance (Mar 29, 2022)
19-49427110-C-T		not specified	Uncertain significance (Aug 15, 2023)
19-49427166-C-T		not specified	Uncertain significance (Dec 14, 2021)
19-49427168-T-G		not specified	Uncertain significance (Oct 05, 2023)
19-49427191-C-T		not specified	Uncertain significance (Feb 07, 2023)
19-49427284-A-G		not specified	Uncertain significance (Dec 03, 2021)
19-49427301-C-G		not specified	Uncertain significance (Dec 19, 2022)
19-49427319-A-G		not specified	Uncertain significance (May 11, 2022)
19-49427335-T-G		not specified	Uncertain significance (Jan 11, 2023)
19-49427379-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-49427394-C-T		not specified	Uncertain significance (Mar 28, 2024)
19-49427478-G-A		not specified	Uncertain significance (Jan 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GFY	protein_coding	protein_coding	ENST00000576655	3	5070

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.562	0.436	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.61	195	269	0.724	0.0000127	3269
Missense in Polyphen		58	88.662	0.65417		1002
Synonymous	1.76	89	113	0.789	0.00000544	1175
Loss of Function	2.52	2	11.1	0.181	5.59e-7	147

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling (By similarity). {ECO:0000250}.

Haploinsufficiency Scores

• ghis: 0.399

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gfy
• Phenotype: cellular phenotype; craniofacial phenotype; growth/size/body region phenotype; taste/olfaction phenotype; respiratory system phenotype

Gene ontology

• Biological process: sensory perception of smell;response to stimulus;protein localization to non-motile cilium;non-motile cilium assembly
• Cellular component: integral component of Golgi membrane