CYLD-AS1

CYLD antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:50727417-50742951

Links

ENSG00000261644 ∙ NCBI:102724907 ∙ ∙ HGNC:55352 ∙ ∙ ∙ 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 CYLD-AS1 gene.

• Blau syndrome (29 variants)
• Inflammatory bowel disease 1 (25 variants)
• Blau syndrome;Regional enteritis (19 variants)
• not provided (14 variants)
• Regional enteritis;Blau syndrome (13 variants)
• Autoinflammatory syndrome (6 variants)
• Familial cylindromatosis (3 variants)
• Familial multiple trichoepitheliomata (3 variants)
• Brooke-Spiegler syndrome (3 variants)
• Crohn disease (2 variants)
• Crohn’s Disease (1 variants)
• NOD2-related condition (1 variants)
• not specified (1 variants)
• Inborn genetic diseases (1 variants)
• Yao syndrome;Blau syndrome;Inflammatory bowel disease 1 (1 variants)
• Leprosy, susceptibility to, 1 (1 variants)
• Inflammatory bowel disease 1;Blau syndrome (1 variants)
• Yao syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYLD-AS1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			3		1	4
splice region						0
non coding			32	19	9	60
Total	0	0	35	19	10

Variants in CYLD-AS1

This is a list of pathogenic ClinVar variants found in the CYLD-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-50729801-T-C		Regional enteritis;Blau syndrome	Likely benign (Jul 04, 2021)
16-50729802-G-C		Blau syndrome;Regional enteritis	Benign/Likely benign (Jan 19, 2024)
16-50729806-C-T		Blau syndrome;Regional enteritis	Likely benign (Oct 11, 2022)
16-50729807-T-G		Blau syndrome;Regional enteritis	Benign (Dec 14, 2023)
16-50729809-C-A		Blau syndrome;Regional enteritis	Likely benign (Nov 22, 2022)
16-50729818-G-A		Blau syndrome;Regional enteritis	Uncertain significance (Aug 22, 2020)
16-50729826-A-G		Inborn genetic diseases	Uncertain significance (Jun 05, 2023)
16-50729835-T-C		Autoinflammatory syndrome • Regional enteritis;Blau syndrome	Uncertain significance (Oct 14, 2023)
16-50729838-C-T		Blau syndrome;Inflammatory bowel disease 1 • Blau syndrome;Regional enteritis	Uncertain significance (Jun 03, 2021)
16-50729845-AG-A		Blau syndrome;Regional enteritis	Uncertain significance (Nov 10, 2023)
16-50729847-G-C		Blau syndrome;Regional enteritis	Uncertain significance (Nov 08, 2018)
16-50729849-G-A		Autoinflammatory syndrome • Blau syndrome;Regional enteritis	Uncertain significance (Dec 30, 2023)
16-50729861-C-G		Regional enteritis;Blau syndrome	Uncertain significance (Jan 16, 2019)
16-50729863-G-A		Regional enteritis;Blau syndrome	Likely benign (Jul 17, 2023)
16-50729867-G-C		Regional enteritis;Blau syndrome	Uncertain significance (Sep 29, 2021)
16-50729867-G-GC		Blau syndrome • not specified • Crohn’s Disease • Regional enteritis;Blau syndrome • Autoinflammatory syndrome • Inflammatory bowel disease 1;Yao syndrome;Blau syndrome • Crohn disease • Yao syndrome • Inflammatory bowel disease 1	Conflicting classifications of pathogenicity; association (Jan 31, 2024)
16-50729870-C-T		Regional enteritis;Blau syndrome	Uncertain significance (Jan 16, 2019)
16-50729876-A-G		Autoinflammatory syndrome • Blau syndrome;Regional enteritis	Uncertain significance (Jun 20, 2023)
16-50729880-A-G		Blau syndrome;Regional enteritis • NOD2-related disorder	Uncertain significance (Aug 14, 2023)
16-50729889-T-C		Blau syndrome;Regional enteritis	Uncertain significance (Jun 13, 2022)
16-50729891-C-T		Regional enteritis;Blau syndrome	Likely benign (Dec 27, 2023)
16-50729914-G-A		Blau syndrome;Regional enteritis	Likely benign (Oct 24, 2023)
16-50729915-G-A		Regional enteritis;Blau syndrome	Likely benign (Jun 06, 2021)
16-50729916-C-A		Regional enteritis;Blau syndrome	Likely benign (Jan 16, 2024)
16-50731645-C-G		Blau syndrome	not provided (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP