ZBTB11-AS1

ZBTB11 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:101676421-101679217

Links

ENSG00000256628 ∙ NCBI:100009676 ∙ ∙ HGNC:48573 ∙ ∙ ∙ 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 ZBTB11-AS1 gene.

• Inborn genetic diseases (6 variants)
• not provided (2 variants)
• Intellectual developmental disorder, autosomal recessive 69 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB11-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	2		8			10
Total	2	0	8	0	0

Variants in ZBTB11-AS1

This is a list of pathogenic ClinVar variants found in the ZBTB11-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
3-101676633-G-T		not specified	Uncertain significance (Dec 13, 2022)
3-101676635-G-A		not specified	Uncertain significance (Apr 13, 2022)
3-101676644-G-A			Uncertain significance (Feb 15, 2022)
3-101676662-T-C		not specified	Uncertain significance (Dec 16, 2023)
3-101676695-G-T		not specified	Uncertain significance (May 04, 2022)
3-101676696-G-A		ZBTB11-related disorder	Likely benign (May 02, 2019)
3-101676748-C-T		not specified	Uncertain significance (Jan 03, 2024)
3-101676749-G-A		not specified	Uncertain significance (Dec 03, 2021)
3-101676761-G-A		Intellectual developmental disorder, autosomal recessive 69	Pathogenic (Oct 30, 2024)
3-101676797-A-G		not specified	Uncertain significance (Nov 08, 2022)
3-101676817-ATTTTACGCTTGAC-A		Intellectual developmental disorder, autosomal recessive 69	Pathogenic (May 24, 2023)
3-101676880-C-G		not specified	Uncertain significance (Mar 23, 2022)
3-101676898-C-T		not specified	Uncertain significance (Jul 26, 2022)
3-101676902-C-T			Uncertain significance (Feb 15, 2022)
3-101676904-T-C		not specified	Uncertain significance (Dec 20, 2023)
3-101676908-T-C		not specified	Uncertain significance (May 15, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.419