GJD3-AS1

Gene

GJD3 antisense RNA 1, the group of Antisense RNAs

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.43

Max pathogenic AF

—

Genomic locus

chr17:40,360,655-40,365,372

External References & Databases

Ensembl (ENSG00000266208)

NCBI Gene (112529913)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GJD3-AS1 variants in ClinVar

1 Conditions Cataloged

Inborn genetic diseasesTotal: 16

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000578774
Coding exons: 2
Length: 4039
Individuals with no LoFs: 103785
Homozygous LoFs: 17
Heterozygous LoFs: 2861
Defined: 106663
p: 0.0136

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.278	119	128	0.931	0.00000614	1992
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0031	0.0032	notable
Latino/Admixed American	0.0073	0.0074	notable
Ashkenazi Jewish	0.0061	0.0061	notable
East Asian	0	0.0	absent
Finnish	0.023	0.024	notable
European (Non-Finnish)	0.020	0.020	notable
South Asian	0.0051	0.0051	notable
Other	0.016	0.016	notable