ZNF561-AS1

ZNF561 antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 19:9620993-9674662

Previous symbols: [ "C19orf82" ]

Links

ENSG00000267106 ∙ NCBI:284385 ∙ ∙ HGNC:27613 ∙ Uniprot:K7EIQ3 ∙ 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 ZNF561-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF561-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			27	5		32
Total	0	0	27	5	0

Variants in ZNF561-AS1

This is a list of pathogenic ClinVar variants found in the ZNF561-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
19-9653061-T-C		not specified	Uncertain significance (Oct 22, 2021)
19-9653073-G-A		not specified	Uncertain significance (Feb 08, 2025)
19-9653094-T-C		not specified	Uncertain significance (Jun 07, 2024)
19-9653130-G-C		not specified	Likely benign (May 04, 2023)
19-9653169-G-C		not specified	Uncertain significance (Nov 06, 2023)
19-9653188-C-T		not specified	Uncertain significance (Dec 16, 2022)
19-9653233-G-C		not specified	Uncertain significance (Sep 02, 2024)
19-9653274-G-A		not specified	Uncertain significance (Jul 09, 2021)
19-9653310-A-C		not specified	Uncertain significance (Aug 04, 2023)
19-9653325-G-C		not specified	Uncertain significance (Mar 19, 2024)
19-9653341-A-G		not specified	Uncertain significance (Nov 18, 2023)
19-9653365-C-G		not specified	Uncertain significance (Feb 06, 2023)
19-9653385-T-C		not specified	Uncertain significance (Jun 24, 2022)
19-9653400-G-A		not specified	Uncertain significance (Jan 17, 2023)
19-9653438-G-T		not specified	Likely benign (Sep 24, 2024)
19-9653460-T-C		not specified	Likely benign (Apr 12, 2024)
19-9653483-C-A		not specified	Uncertain significance (Jan 27, 2025)
19-9653576-G-T		not specified	Uncertain significance (Sep 17, 2021)
19-9653604-C-G		not specified	Uncertain significance (Jan 18, 2022)
19-9653673-G-T		not specified	Uncertain significance (Sep 29, 2023)
19-9653689-A-G		not specified	Uncertain significance (Jul 02, 2024)
19-9653704-A-G		not specified	Uncertain significance (Nov 05, 2021)
19-9653739-C-T		not specified	Uncertain significance (Jan 27, 2025)
19-9653743-T-G		not specified	Likely benign (Jun 13, 2023)
19-9653745-C-A		not specified	Likely benign (Jun 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF561-AS1	protein_coding	protein_coding	ENST00000587536	3	24606

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00167	0.479	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0589	46	44.9	1.02	0.00000223	672
Missense in Polyphen
Synonymous	-0.147	19	18.2	1.04	0.00000108	203
Loss of Function	0.0251	4	4.05	0.987	1.73e-7	56

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

• ghis: 0.420