PYCARD-AS1

PYCARD antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:31201486-31203452

Previous symbols: [ "C16orf98", "PYCARDOS" ]

Links

ENSG00000261359 ∙ NCBI:100652740 ∙ ∙ HGNC:45036 ∙ Uniprot:I3L0S3 ∙ 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 PYCARD-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PYCARD-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)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in PYCARD-AS1

This is a list of pathogenic ClinVar variants found in the PYCARD-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
16-31201703-C-T		not specified	Uncertain significance (Mar 20, 2023)
16-31201765-C-T			Likely benign (Jun 26, 2018)
16-31201803-C-G		not specified	Uncertain significance (Jan 26, 2022)
16-31201818-G-A		not specified	Uncertain significance (Dec 28, 2024)
16-31201831-A-G			Benign (Dec 13, 2017)
16-31202471-G-A		not specified	Uncertain significance (Oct 03, 2024)
16-31202507-C-T		not specified	Uncertain significance (Nov 24, 2024)
16-31202518-C-T		not specified	Uncertain significance (Jul 14, 2024)
16-31202663-C-T		not specified	Uncertain significance (Nov 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PYCARD-AS1	protein_coding	protein_coding	ENST00000561916	2	1568

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.345	0.496	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.527	62	74.8	0.829	0.00000345	1227
Missense in Polyphen
Synonymous	0.0527	32	32.4	0.988	0.00000144	459
Loss of Function	0.706	0	0.581	0.00	2.43e-8	9

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.238
• ghis: 0.394