GJB7

gap junction protein beta 7, the group of Gap junction proteins

Basic information

Region (hg38): 6:87282980-87329278

Links

ENSG00000164411 ∙ NCBI:375519 ∙ OMIM:611921 ∙ HGNC:16690 ∙ Uniprot:Q6PEY0 ∙ 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 GJB7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJB7 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			15		1	16
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	2

Variants in GJB7

This is a list of pathogenic ClinVar variants found in the GJB7 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-87284268-T-TA			Benign (Oct 10, 2018)
6-87284282-G-C		not specified	Uncertain significance (Aug 20, 2024)
6-87284299-C-T		not specified	Uncertain significance (Jun 22, 2021)
6-87284306-G-T		not specified	Uncertain significance (Apr 11, 2023)
6-87284420-T-C		not specified	Uncertain significance (Nov 03, 2023)
6-87284464-C-T		not specified	Uncertain significance (Feb 22, 2023)
6-87284470-C-G		not specified	Uncertain significance (Sep 03, 2024)
6-87284518-G-A		not specified	Uncertain significance (Sep 07, 2022)
6-87284534-T-A		not specified	Uncertain significance (Mar 30, 2024)
6-87284588-G-A		not specified	Uncertain significance (Nov 07, 2024)
6-87284599-T-G		not specified	Uncertain significance (Nov 22, 2023)
6-87284623-T-C		not specified	Uncertain significance (Sep 01, 2021)
6-87284632-T-A		not specified	Uncertain significance (Aug 08, 2023)
6-87284664-C-T			Benign (Oct 10, 2018)
6-87284689-C-G		not specified	Uncertain significance (Feb 23, 2023)
6-87284737-C-T		not specified	Uncertain significance (Dec 12, 2023)
6-87284761-A-G		not specified	Uncertain significance (May 11, 2022)
6-87284767-T-C		not specified	Uncertain significance (Nov 08, 2021)
6-87284831-C-G		not specified	Uncertain significance (Aug 30, 2022)
6-87284869-T-A		not specified	Uncertain significance (Jan 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GJB7	protein_coding	protein_coding	ENST00000525899	1	46301

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.86e-7	0.103	124866	5	860	125731	0.00345

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.370	122	111	1.10	0.00000515	1466
Missense in Polyphen		39	37.694	1.0347		550
Synonymous	1.19	34	44.1	0.772	0.00000228	420
Loss of Function	-0.794	8	5.92	1.35	2.52e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0424	0.0424
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000741	0.000739
Middle Eastern	0.000381	0.000381
South Asian	0.000327	0.000294
Other	0.00261	0.00261

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. {ECO:0000250, ECO:0000269|PubMed:12064583}.

Intolerance Scores

• loftool: 0.389
• rvis_EVS: 1.15
• rvis_percentile_EVS: 92.47

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.177

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.113

Gene Damage Prediction

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

Gene ontology

• Biological process: cell communication;transmembrane transport
• Cellular component: connexin complex;integral component of membrane
• Molecular function: gap junction channel activity