PANX3

pannexin 3, the group of Pannexins

Basic information

Region (hg38): 11:124611428-124620356

Links

ENSG00000154143 ∙ NCBI:116337 ∙ OMIM:608422 ∙ HGNC:20573 ∙ Uniprot:Q96QZ0 ∙ 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 PANX3 gene.

• not_specified (41 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PANX3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052959.3. 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				1		1
missense			39	1	1	41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	2	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PANX3	protein_coding	protein_coding	ENST00000284288	4	8867

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000397	0.848	125692	0	56	125748	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.466	206	226	0.913	0.0000130	2524
Missense in Polyphen		83	96.207	0.86272		1179
Synonymous	0.680	87	95.4	0.912	0.00000517	829
Loss of Function	1.35	9	14.6	0.617	8.76e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000604	0.000604
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000176	0.000176
Middle Eastern	0.000109	0.000109
South Asian	0.000555	0.000555
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Structural component of the gap junctions and the hemichannels.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.764
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.6

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.229

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.698

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Panx3
• Phenotype: skeleton phenotype; immune system phenotype; reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: cation transport;cell-cell signaling;protein hexamerization;positive regulation of interleukin-1 secretion;transmembrane transport
• Cellular component: plasma membrane;gap junction;integral component of membrane
• Molecular function: wide pore channel activity;gap junction hemi-channel activity