GOLGA7B

golgin A7 family member B

Basic information

Region (hg38): 10:97849843-97871580

Previous symbols: [ "C10orf133", "C10orf132" ]

Links

ENSG00000155265 ∙ NCBI:401647 ∙ OMIM:614189 ∙ HGNC:31668 ∙ Uniprot:Q2TAP0 ∙ 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 GOLGA7B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA7B 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			1	2		3
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	7	2	0

Variants in GOLGA7B

This is a list of pathogenic ClinVar variants found in the GOLGA7B region.

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

Position	Type	Phenotype	Significance	ClinVar
10-97859480-G-A		not specified	Uncertain significance (Sep 30, 2024)
10-97859498-C-T		not specified	Uncertain significance (Nov 25, 2024)
10-97859560-T-C		not specified	Uncertain significance (Jun 25, 2024)
10-97859566-C-T		not specified	Uncertain significance (Nov 11, 2024)
10-97863937-G-A		not specified	Uncertain significance (Oct 25, 2022)
10-97863956-TGTG-T		GOLGA7B-related condition	Uncertain significance (May 23, 2024)
10-97863972-G-A		not specified	Uncertain significance (Dec 21, 2023)
10-97863997-T-C		not specified	Uncertain significance (Oct 12, 2021)
10-97864077-G-A		not specified	Uncertain significance (Jun 16, 2024)
10-97864245-C-A		not specified	Uncertain significance (Nov 26, 2024)
10-97864266-G-T		not specified	Uncertain significance (Dec 19, 2022)
10-97865567-C-G		not specified	Uncertain significance (Jan 05, 2022)
10-97865607-C-T		not specified	Uncertain significance (Jun 27, 2023)
10-97865652-C-T		not specified	Likely benign (Dec 21, 2022)
10-97865670-C-T		not specified	Likely benign (Feb 01, 2023)
10-97865706-C-T		not specified	Uncertain significance (Jun 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA7B	protein_coding	protein_coding	ENST00000370602	5	21342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00599	0.913	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	78	108	0.723	0.00000674	1096
Missense in Polyphen		19	29.875	0.63598		334
Synonymous	-0.384	45	41.8	1.08	0.00000271	316
Loss of Function	1.50	5	10.2	0.492	5.82e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in protein transport from Golgi to cell surface. {ECO:0000250}.

Intolerance Scores

• loftool: 0.541
• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.154
• hipred: N
• hipred_score: 0.279
• ghis: 0.573

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.508

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Golga7b

Gene ontology

• Biological process: protein targeting to membrane;peptidyl-L-cysteine S-palmitoylation
• Cellular component: Golgi membrane;palmitoyltransferase complex
• Molecular function: protein-cysteine S-palmitoyltransferase activity