GOLGA8K

golgin A8 family member K, the group of Golgin related

Basic information

Region (hg38): 15:32389599-32403292

Links

ENSG00000249931 ∙ NCBI:653125 ∙ ∙ HGNC:38652 ∙ Uniprot:D6RF30 ∙ 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 GOLGA8K gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8K 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				6		6
missense				3		3
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	9	0

Variants in GOLGA8K

This is a list of pathogenic ClinVar variants found in the GOLGA8K region.

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

Position	Type	Phenotype	Significance	ClinVar
15-32392862-G-T			Likely benign (May 01, 2024)
15-32392884-A-G			Likely benign (Jan 01, 2023)
15-32393342-C-T			Likely benign (Feb 01, 2024)
15-32397435-C-G			Likely benign (Jul 01, 2024)
15-32398580-G-C			Likely benign (Aug 01, 2023)
15-32398646-G-A			Likely benign (Jan 01, 2023)
15-32398802-G-A			Likely benign (Nov 01, 2022)
15-32398838-C-T			Likely benign (Oct 01, 2023)
15-32400158-C-T			Likely benign (Jul 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA8K	protein_coding	protein_coding	ENST00000512626	19	10414

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.33e-12	0.00514	123433	2	14	123449	0.0000648

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.870	112	88.9	1.26	0.00000479	3946
Missense in Polyphen		17	18.261	0.93094		1358
Synonymous	-2.27	52	34.9	1.49	0.00000201	1087
Loss of Function	-1.40	15	10.2	1.48	4.96e-7	450

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000218	0.000202
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000375	0.0000359
Middle Eastern	0.00	0.00
South Asian	0.000337	0.000262
Other	0.000172	0.000165

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187
• ghis: 0.396

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