GLMP

glycosylated lysosomal membrane protein

Basic information

Region (hg38): 1:156290089-156295689

Previous symbols: [ "C1orf85" ]

Links

ENSG00000198715 ∙ NCBI:112770 ∙ OMIM:619958 ∙ HGNC:29436 ∙ Uniprot:Q8WWB7 ∙ 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 GLMP gene.

• not_specified (67 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GLMP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000144580.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2			2
missense			65	4	1	70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	69	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GLMP	protein_coding	protein_coding	ENST00000362007	6	5584

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125669	0	79	125748	0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.848	185	220	0.839	0.0000119	2573
Missense in Polyphen		43	55.975	0.7682		674
Synonymous	0.940	88	100	0.880	0.00000589	906
Loss of Function	0.115	17	17.5	0.970	0.00000111	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000275	0.000274
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000653	0.000653
Finnish	0.00	0.00
European (Non-Finnish)	0.000251	0.000246
Middle Eastern	0.000653	0.000653
South Asian	0.000980	0.000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0941

Intolerance Scores

• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.61

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;lysosome;lysosomal membrane;cytosol;integral component of membrane
• Molecular function: DNA-binding transcription factor activity;transcription regulatory region DNA binding