GOLGA8IP

golgin A8 family member I, pseudogene, the group of Golgin related

Basic information

Region (hg38): 15:22607540-22617756

Previous symbols: [ "GOLGA9P", "GOLGA8I" ]

Links

ENSG00000277561NCBI:283796HGNC:26660Uniprot:A6NC78AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GOLGA8IP gene.

  • not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8IP 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
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
splice region
0
non coding
6
clinvar
6
Total 0 0 0 7 0

Variants in GOLGA8IP

This is a list of pathogenic ClinVar variants found in the GOLGA8IP region.

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

Position Type Phenotype Significance ClinVar
15-22607690-G-C Likely benign (Feb 01, 2023)2644960
15-22608153-G-A Likely benign (Feb 01, 2023)2644959
15-22608940-C-G Likely benign (Jan 01, 2023)2644958
15-22609499-G-A Likely benign (Feb 01, 2023)2644957
15-22609500-T-C Likely benign (Feb 01, 2023)2644956
15-22611325-A-G Likely benign (Feb 01, 2023)2644955
15-22611326-G-A Likely benign (Feb 01, 2023)2644954

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.431
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene ontology

Biological process
Golgi organization;spindle assembly
Cellular component
Golgi cis cisterna;Golgi apparatus;cis-Golgi network;Golgi cisterna membrane
Molecular function