GJD3-AS1

GJD3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:40360655-40365372

Links

ENSG00000266208 ∙ NCBI:112529913 ∙ ∙ HGNC:56092 ∙ ∙ ∙ 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 GJD3-AS1 gene.

• Inborn genetic diseases (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJD3-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			16			16
Total	0	0	16	0	0

Variants in GJD3-AS1

This is a list of pathogenic ClinVar variants found in the GJD3-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
17-40362980-C-A		not specified	Uncertain significance (Oct 20, 2024)
17-40362993-C-T		not specified	Uncertain significance (Feb 11, 2022)
17-40362996-G-A		not specified	Uncertain significance (Oct 12, 2024)
17-40363029-G-A		not specified	Uncertain significance (Feb 28, 2025)
17-40363058-C-G		Meniere disease	Likely benign (Jan 09, 2024)
17-40363065-G-T		not specified	Uncertain significance (Apr 23, 2024)
17-40363098-G-A		not specified	Uncertain significance (Mar 07, 2023)
17-40363115-G-A		not specified	Uncertain significance (Jul 20, 2021)
17-40363131-G-T		not specified	Uncertain significance (Sep 27, 2021)
17-40363161-G-T		not specified	Uncertain significance (Feb 09, 2025)
17-40363181-A-G		not specified	Uncertain significance (Dec 26, 2023)
17-40363184-T-C		not specified	Uncertain significance (Aug 22, 2023)
17-40363235-T-C		not specified	Uncertain significance (Dec 22, 2023)
17-40363256-T-G		not specified	Uncertain significance (Nov 02, 2023)
17-40363280-C-A		not specified	Uncertain significance (Jan 27, 2022)
17-40363293-G-A		Meniere disease	Likely benign (Jan 09, 2024)
17-40363294-C-G		Meniere disease	Likely benign (Jan 09, 2024)
17-40363325-G-A		not specified	Uncertain significance (Aug 22, 2023)
17-40363377-C-T		not specified	Uncertain significance (Jun 28, 2022)
17-40363380-C-G		not specified	Uncertain significance (Nov 13, 2024)
17-40363412-C-T		not specified	Uncertain significance (Dec 31, 2023)
17-40363416-G-C		not specified	Uncertain significance (Feb 24, 2025)
17-40363418-C-A		not specified	Uncertain significance (May 14, 2024)
17-40363425-G-A		not specified	Uncertain significance (Oct 03, 2022)
17-40363527-T-A		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GJD3-AS1	protein_coding	protein_coding	ENST00000578774	2	4039

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0919	0.778	103785	17	2861	106663	0.0136

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.278	119	128	0.931	0.00000614	1992
Missense in Polyphen		2	2.5136	0.79566		26
Synonymous	1.36	45	58.2	0.773	0.00000289	754
Loss of Function	1.14	2	4.66	0.429	2.08e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0105	0.0105
Ashkenazi Jewish	0.00607	0.00609
East Asian	0.00	0.00
Finnish	0.0234	0.0236
European (Non-Finnish)	0.0204	0.0205
Middle Eastern	0.00	0.00
South Asian	0.00509	0.00507
Other	0.0162	0.0163

dbNSFP

Source: dbNSFP