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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

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