GOLGA8S

golgin A8 family member S, the group of Golgin related

Basic information

Region (hg38): 15:23354748-23368341

Links

ENSG00000261739 ∙ NCBI:653061 ∙ ∙ HGNC:44409 ∙ Uniprot:H3BPF8 ∙ 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 GOLGA8S gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8S 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				3		3
missense				1		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	4	0

Variants in GOLGA8S

This is a list of pathogenic ClinVar variants found in the GOLGA8S region.

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

Position	Type	Phenotype	Significance	ClinVar
15-23360525-C-T			Likely benign (Jul 01, 2023)
15-23364390-G-T			Likely benign (Apr 01, 2022)
15-23364417-T-C			Likely benign (Dec 01, 2022)
15-23364531-T-C			Likely benign (Mar 01, 2025)
15-23365041-G-A			Likely benign (Apr 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA8S	protein_coding	protein_coding	ENST00000562295	19	12484

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.67e-28	2.10e-7	96924	2018	26095	125037	0.120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.44	331	169	1.96	0.00000908	3929
Missense in Polyphen		81	49.673	1.6307		1336
Synonymous	-3.76	105	66.1	1.59	0.00000374	1101
Loss of Function	-3.55	33	17.2	1.92	7.32e-7	461

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.132	0.130
Ashkenazi Jewish	0.134	0.133
East Asian	0.172	0.175
Finnish	0.118	0.0835
European (Non-Finnish)	0.131	0.128
Middle Eastern	0.172	0.175
South Asian	0.147	0.142
Other	0.131	0.127

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

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