CYS1

cystin 1

Basic information

Region (hg38): 2:10056473-10080944

Links

ENSG00000205795 ∙ NCBI:192668 ∙ OMIM:618713 ∙ HGNC:18525 ∙ Uniprot:Q717R9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• polycystic kidney disease (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CYS1 gene.

• not_specified (50 variants)
• not_provided (1 variants)
• Autosomal_recessive_polycystic_kidney_disease (1 variants)
• CYS1-related_condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYS1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001037160.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			46	2		48
nonsense						0
start loss						0
frameshift			2		1	3
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	3	1

Highest pathogenic variant AF is 0.0000018005625

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYS1	protein_coding	protein_coding	ENST00000381813	3	24165

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125729	0	1	125730	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.287	32	36.9	0.867	0.00000245	954
Missense in Polyphen		2	4.6419	0.43086		66
Synonymous	1.60	7	14.8	0.472	0.00000114	364
Loss of Function	0.285	1	1.36	0.736	5.68e-8	38

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
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

• Pathway: miRNA regulation of p53 pathway in prostate cancer;Trafficking of myristoylated proteins to the cilium;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.188

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.206

Gene Damage Prediction

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

Gene ontology

• Cellular component: cytosol;cytoskeleton;cilium;ciliary membrane
• Molecular function: protein binding