GJA10

gap junction protein alpha 10, the group of Gap junction proteins

Basic information

Region (hg38): 6:89894469-89921760

Links

ENSG00000135355 ∙ NCBI:84694 ∙ OMIM:611924 ∙ HGNC:16995 ∙ Uniprot:Q969M2 ∙ 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 GJA10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJA10 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			50	5		55
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	50	6	0

Variants in GJA10

This is a list of pathogenic ClinVar variants found in the GJA10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-89894566-G-A		not specified	Uncertain significance (Dec 16, 2023)
6-89894632-A-G		not specified	Uncertain significance (Feb 06, 2023)
6-89894637-C-T		not specified	Uncertain significance (Jun 11, 2021)
6-89894638-G-A		not specified	Likely benign (Oct 03, 2022)
6-89894655-A-G		not specified	Uncertain significance (Dec 22, 2023)
6-89894658-A-T		not specified	Uncertain significance (Jun 02, 2023)
6-89894667-G-A		not specified	Uncertain significance (Jul 12, 2023)
6-89894743-A-G		not specified	Uncertain significance (Apr 19, 2024)
6-89894747-G-A		not specified	Uncertain significance (Jul 26, 2024)
6-89894772-G-C		not specified	Uncertain significance (Sep 20, 2023)
6-89894800-A-C		not specified	Uncertain significance (Dec 03, 2024)
6-89894860-T-A		not specified	Uncertain significance (Nov 17, 2022)
6-89894896-G-A		not specified	Uncertain significance (Jul 06, 2022)
6-89894954-G-T		not specified	Uncertain significance (Mar 18, 2024)
6-89894956-C-A		not specified	Uncertain significance (Aug 12, 2024)
6-89894973-G-A		not specified	Uncertain significance (Jul 09, 2021)
6-89894986-T-C		not specified	Uncertain significance (Feb 07, 2023)
6-89895000-C-T		not specified	Uncertain significance (Nov 29, 2023)
6-89895020-C-A		not specified	Uncertain significance (Apr 04, 2023)
6-89895058-C-T		not specified	Uncertain significance (Aug 28, 2024)
6-89895061-T-G		not specified	Uncertain significance (May 01, 2024)
6-89895067-G-A		not specified	Uncertain significance (Jan 03, 2022)
6-89895091-A-C		not specified	Uncertain significance (Sep 01, 2021)
6-89895126-G-A		not specified	Uncertain significance (Jul 06, 2024)
6-89895126-G-C		not specified	Uncertain significance (Jun 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GJA10	protein_coding	protein_coding	ENST00000369352	1	1652

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.31e-10	0.120	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.718	316	282	1.12	0.0000139	3588
Missense in Polyphen		76	75.885	1.0015		1067
Synonymous	-0.299	107	103	1.04	0.00000488	1055
Loss of Function	0.290	15	16.3	0.922	9.17e-7	182

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

• Function: FUNCTION: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity). {ECO:0000250}.
• Pathway: Electric Transmission Across Gap Junctions;Transmission across Electrical Synapses ;Neuronal System (Consensus)

Recessive Scores

• pRec: 0.0959

Intolerance Scores

• loftool: 0.229
• rvis_EVS: -0.2
• rvis_percentile_EVS: 39.11

Haploinsufficiency Scores

• pHI: 0.329
• hipred: N
• hipred_score: 0.146
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.291

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gja10
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype

Gene ontology

• Biological process: cell communication;gamete generation;synapse assembly;detection of light stimulus involved in visual perception;transmembrane transport
• Cellular component: plasma membrane;connexin complex;integral component of membrane
• Molecular function: gap junction channel activity