GOLGA8T

golgin A8 family member T, the group of Golgin related

Basic information

Region (hg38): 15:30135051-30148748

Links

ENSG00000261247 ∙ NCBI:653075 ∙ ∙ HGNC:44410 ∙ Uniprot:H3BQL2 ∙ 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 GOLGA8T gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8T 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				4		4
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	5	0

Variants in GOLGA8T

This is a list of pathogenic ClinVar variants found in the GOLGA8T region.

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

Position	Type	Phenotype	Significance	ClinVar
15-30137892-T-C			Likely benign (Nov 01, 2024)
15-30144850-C-T			Likely benign (Jun 01, 2023)
15-30145007-G-A			Likely benign (Jan 01, 2023)
15-30145297-C-T			Likely benign (Jul 01, 2022)
15-30145307-G-C			Likely benign (Jun 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA8T	protein_coding	protein_coding	ENST00000569052	19	10419

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.26e-11	0.00719	122834	2	20	122856	0.0000895

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.16	116	66.4	1.75	0.00000390	3951
Missense in Polyphen		14	7.1963	1.9454		1114
Synonymous	-3.01	42	23.4	1.79	0.00000132	1079
Loss of Function	-1.40	14	9.36	1.50	4.81e-7	461

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000362	0.000348
Ashkenazi Jewish	0.00	0.00
East Asian	0.000173	0.000110
Finnish	0.00	0.00
European (Non-Finnish)	0.000131	0.000117
Middle Eastern	0.000173	0.000110
South Asian	0.00	0.00
Other	0.000342	0.000331

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.255

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