GOLGA8J

golgin A8 family member J, the group of Golgin related

Basic information

Region (hg38): 15:30082955-30096690

Links

ENSG00000179938 ∙ NCBI:653073 ∙ ∙ HGNC:38650 ∙ Uniprot:A6NMD2 ∙ 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 GOLGA8J gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8J 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				1	1	2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	0	3	1

Variants in GOLGA8J

This is a list of pathogenic ClinVar variants found in the GOLGA8J region.

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

Position	Type	Phenotype	Significance	ClinVar
15-30089294-G-A			Likely benign (Feb 01, 2023)
15-30092398-T-C			Likely benign (Jan 01, 2023)
15-30092761-G-A			Likely benign (Sep 01, 2024)
15-30092887-G-A			Likely benign (Apr 01, 2025)
15-30093429-A-C			Benign (Nov 17, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA8J	protein_coding	protein_coding	ENST00000567927	19	10545

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.96e-17	0.000658	120266	1	20	120287	0.0000873

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.67	190	111	1.71	0.00000626	3984
Missense in Polyphen		30	22.253	1.3482		1196
Synonymous	-3.48	71	42.3	1.68	0.00000239	1104
Loss of Function	-1.45	21	14.9	1.41	8.24e-7	473

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000484	0.000321
Ashkenazi Jewish	0.00	0.00
East Asian	0.000124	0.000112
Finnish	0.00	0.00
European (Non-Finnish)	0.000141	0.000129
Middle Eastern	0.000124	0.000112
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187
• ghis: 0.420

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