GOLGA8H

golgin A8 family member H, the group of Golgin related

Basic information

Region (hg38): 15:30604028-30617752

Links

ENSG00000261794 ∙ NCBI:728498 ∙ ∙ HGNC:37443 ∙ Uniprot:P0CJ92 ∙ 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 GOLGA8H gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8H 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						0
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in GOLGA8H

This is a list of pathogenic ClinVar variants found in the GOLGA8H region.

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

Position	Type	Phenotype	Significance	ClinVar
15-30613869-C-T			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA8H	protein_coding	protein_coding	ENST00000566740	19	10436

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.46e-36	2.98e-9	123540	17	753	124310	0.00310

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.78	364	182	2.00	0.00000986	4022
Missense in Polyphen		62	36.97	1.6771		922
Synonymous	-4.48	118	70.2	1.68	0.00000381	1102
Loss of Function	-3.91	42	22.1	1.90	0.00000103	462

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00304	0.00292
Ashkenazi Jewish	0.000101	0.000100
East Asian	0.00618	0.00611
Finnish	0.000108	0.0000924
European (Non-Finnish)	0.00456	0.00434
Middle Eastern	0.00618	0.00611
South Asian	0.00265	0.00265
Other	0.00218	0.00215

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

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;Golgi cisterna membrane