GOLGA8M

golgin A8 family member M, the group of Golgin related

Basic information

Region (hg38): 15:28719377-28738431

Links

ENSG00000261480 ∙ NCBI:653720 ∙ ∙ HGNC:44404 ∙ Uniprot:H3BSY2 ∙ 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 GOLGA8M gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8M 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				3		3
missense				2		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding						0
Total	0	0	0	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOLGA8M	protein_coding	protein_coding	ENST00000563027	19	36431

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.73e-13	0.0199	123880	1	36	123917	0.000149

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.27	239	159	1.51	0.00000797	3975
Missense in Polyphen		32	30.208	1.0593		1030
Synonymous	-2.44	86	61.6	1.40	0.00000332	1089
Loss of Function	-0.118	19	18.5	1.03	8.21e-7	467

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000679	0.000679
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000563	0.0000550
Finnish	0.00	0.00
European (Non-Finnish)	0.0000454	0.0000443
Middle Eastern	0.0000563	0.0000550
South Asian	0.000362	0.000360
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.380
• ghis: 0.519

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Biological process: Golgi organization;spindle assembly
• Cellular component: Golgi cis cisterna;Golgi apparatus;cis-Golgi network;Golgi cisterna membrane