GOLGA8B

golgin A8 family member B, the group of MicroRNA protein coding host genes|Golgin related

Basic information

Region (hg38): 15:34525095-34588503

Links

ENSG00000215252 ∙ NCBI:440270 ∙ OMIM:609619 ∙ HGNC:31973 ∙ Uniprot:A8MQT2 ∙ 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 GOLGA8B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8B 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			14	3		17
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	14	3	1

Variants in GOLGA8B

This is a list of pathogenic ClinVar variants found in the GOLGA8B region.

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

Position	Type	Phenotype	Significance	ClinVar
15-34527735-T-C		not specified	Uncertain significance (Jul 05, 2024)
15-34527759-T-C		not specified	Uncertain significance (Nov 15, 2024)
15-34527765-T-C		not specified	Uncertain significance (May 20, 2024)
15-34527776-C-G		not specified	Uncertain significance (Aug 17, 2022)
15-34527778-C-G		not specified	Uncertain significance (Feb 22, 2024)
15-34527805-C-T		not specified	Uncertain significance (May 16, 2022)
15-34527931-T-C		not specified	Uncertain significance (Aug 02, 2021)
15-34527934-C-T		not specified	Likely benign (Aug 22, 2023)
15-34527955-G-A		not specified	Uncertain significance (Aug 28, 2024)
15-34527957-G-A		not specified	Uncertain significance (Dec 14, 2021)
15-34528016-G-T		not specified	Uncertain significance (Feb 13, 2024)
15-34528018-G-A		not specified	Likely benign (Oct 18, 2021)
15-34528020-C-T		not specified	Uncertain significance (Mar 02, 2023)
15-34528054-C-T		not specified	Likely benign (Nov 09, 2021)
15-34531704-A-G			Benign (Dec 13, 2018)
15-34532868-A-C		not specified	Uncertain significance (Mar 29, 2023)
15-34532892-G-A		not specified	Uncertain significance (Dec 19, 2022)
15-34532950-A-C		not specified	Uncertain significance (Jul 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA8B	protein_coding	protein_coding	ENST00000267731	16	63297

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000480	0.255	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.182	79	74.6	1.06	0.00000389	3852
Missense in Polyphen		14	21.087	0.66392		853
Synonymous	-0.0772	31	30.5	1.02	0.00000184	1108
Loss of Function	-0.382	6	5.07	1.18	2.75e-7	419

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in maintaining Golgi structure. {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.161
• hipred: N
• hipred_score: 0.227
• ghis: 0.585

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00322

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;cytosol;Golgi cisterna membrane