GUCD1

guanylyl cyclase domain containing 1

Basic information

Region (hg38): 22:24540422-24555935

Previous symbols: [ "C22orf13" ]

Links

ENSG00000138867 ∙ NCBI:83606 ∙ OMIM:619171 ∙ HGNC:14237 ∙ Uniprot:Q96NT3 ∙ 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 GUCD1 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUCD1 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in GUCD1

This is a list of pathogenic ClinVar variants found in the GUCD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-24543023-C-T		not specified	Uncertain significance (Jan 19, 2022)
22-24543845-C-T		not specified	Uncertain significance (May 23, 2023)
22-24543908-T-C		not specified	Uncertain significance (Sep 27, 2021)
22-24543997-T-C		not specified	Uncertain significance (Sep 01, 2021)
22-24544010-C-A		not specified	Uncertain significance (Dec 21, 2022)
22-24547942-T-C		not specified	Uncertain significance (Aug 09, 2021)
22-24548054-C-T		not specified	Uncertain significance (Jan 24, 2024)
22-24554955-C-T		not specified	Uncertain significance (Nov 12, 2021)
22-24554982-C-T		not specified	Uncertain significance (Aug 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GUCD1	protein_coding	protein_coding	ENST00000407471	6	15498

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.242	0.752	125730	0	14	125744	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.889	111	141	0.789	0.00000783	1576
Missense in Polyphen		29	42.589	0.68093		503
Synonymous	-0.486	62	57.3	1.08	0.00000312	446
Loss of Function	2.37	3	11.8	0.255	5.98e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000906	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000794	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.09

Haploinsufficiency Scores

• pHI: 0.227
• hipred: N
• hipred_score: 0.240
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gucd1

Gene ontology

• Molecular function: protein binding