GOLM1

golgi membrane protein 1

Basic information

Region (hg38): 9:86026146-86100173

Previous symbols: [ "GOLPH2", "C9orf155" ]

Links

ENSG00000135052NCBI:51280OMIM:606804HGNC:15451Uniprot:Q8NBJ4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GOLM1 gene.

  • not_specified (52 variants)
  • not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLM1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016548.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
3
clinvar
5
missense
48
clinvar
4
clinvar
1
clinvar
53
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 48 6 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GOLM1protein_codingprotein_codingENST00000388712 974028
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
9.62e-90.7541257100371257470.000147
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7582002330.8600.00001372629
Missense in Polyphen4753.0460.88602530
Synonymous-0.1919693.71.030.00000586746
Loss of Function1.431623.50.6810.00000126244

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002110.000211
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.0002320.000231
European (Non-Finnish)0.0001420.000141
Middle Eastern0.0002180.000217
South Asian0.0001960.000196
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Unknown. Cellular response protein to viral infection.;
Pathway
Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

pRec
0.108

Intolerance Scores

loftool
0.764
rvis_EVS
0.64
rvis_percentile_EVS
84.05

Haploinsufficiency Scores

pHI
0.396
hipred
N
hipred_score
0.198
ghis
0.471

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.909

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Golm1
Phenotype
homeostasis/metabolism phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; immune system phenotype; renal/urinary system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
nucleus organization;regulation of lipid metabolic process;post-translational protein modification;cellular protein metabolic process
Cellular component
extracellular space;endoplasmic reticulum lumen;Golgi apparatus;integral component of plasma membrane
Molecular function
protein binding