GOLGA8A

golgin A8 family member A, the group of Golgin related|MicroRNA protein coding host genes|Cilia and flagella associated

Basic information

Region (hg38): 15:34378934-34437808

Links

ENSG00000175265 ∙ NCBI:23015 ∙ OMIM:616180 ∙ HGNC:31972 ∙ Uniprot:A7E2F4 ∙ 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 GOLGA8A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8A 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		1
missense			15	2	1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	3	1

Variants in GOLGA8A

This is a list of pathogenic ClinVar variants found in the GOLGA8A region.

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

Position	Type	Phenotype	Significance	ClinVar
15-34381445-A-G		not specified	Uncertain significance (Mar 07, 2023)
15-34381448-C-A		not specified	Likely benign (Mar 07, 2023)
15-34381458-A-G		not specified	Uncertain significance (Nov 29, 2021)
15-34381472-A-G		not specified	Uncertain significance (May 14, 2024)
15-34381513-C-G		not specified	Uncertain significance (Oct 25, 2022)
15-34381521-C-T			Benign (Dec 31, 2019)
15-34381524-G-C		not specified	Uncertain significance (Sep 17, 2021)
15-34381535-G-C		not specified	Uncertain significance (Mar 04, 2024)
15-34381536-G-A		not specified	Uncertain significance (Aug 30, 2022)
15-34381600-C-A			Likely benign (Feb 01, 2024)
15-34381601-G-A		not specified	Likely benign (Mar 15, 2024)
15-34381709-T-C		not specified	Uncertain significance (May 03, 2023)
15-34381752-T-C		not specified	Uncertain significance (May 04, 2023)
15-34381773-G-C		not specified	Uncertain significance (Apr 06, 2024)
15-34381781-G-A		not specified	Uncertain significance (Mar 19, 2024)
15-34381803-C-T		not specified	Uncertain significance (Dec 27, 2022)
15-34381823-G-A		not specified	Uncertain significance (Mar 29, 2022)
15-34382019-A-C		not specified	Likely benign (Oct 06, 2021)
15-34385767-C-A		not specified	Uncertain significance (Jan 26, 2022)
15-34386701-G-A		not specified	Uncertain significance (Oct 27, 2021)
15-34386711-G-A		not specified	Uncertain significance (Jul 13, 2021)
15-34386717-G-A		not specified	Uncertain significance (Jun 21, 2023)
15-34386737-G-A		not specified	Uncertain significance (Apr 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA8A	protein_coding	protein_coding	ENST00000360553	16	209436

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000395	0.415	125329	0	3	125332	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.273	72	78.8	0.913	0.00000428	3807
Missense in Polyphen		10	16.591	0.60275		1015
Synonymous	-0.736	37	31.7	1.17	0.00000181	1101
Loss of Function	-0.00205	5	5.00	1.00	2.74e-7	410

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)	0.0000111	0.00000883
Middle Eastern	0.00	0.00
South Asian	0.0000718	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in maintaining Golgi structure. {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.428
• hipred: N
• hipred_score: 0.305

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0568

Gene Damage Prediction

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

Gene ontology

• Biological process: Golgi organization;spindle assembly
• Cellular component: Golgi cis cisterna;Golgi apparatus;cis-Golgi network;cytosol;Golgi cisterna membrane