GLIPR1L1

GLIPR1 like 1, the group of GLIPR family

Basic information

Region (hg38): 12:75334670-75370560

Links

ENSG00000173401 ∙ NCBI:256710 ∙ OMIM:610395 ∙ HGNC:28392 ∙ Uniprot:Q6UWM5 ∙ 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 GLIPR1L1 gene.

• not_specified (25 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GLIPR1L1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001304964.2. 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						0
missense			25			25
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GLIPR1L1	protein_coding	protein_coding	ENST00000312442	5	35922

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000105	0.350	125550	1	194	125745	0.000776

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.121	118	122	0.969	0.00000580	1522
Missense in Polyphen		31	31.505	0.98398		395
Synonymous	0.599	40	45.1	0.887	0.00000248	418
Loss of Function	0.449	10	11.7	0.858	5.90e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00203	0.00203
Ashkenazi Jewish	0.00	0.00
East Asian	0.00246	0.00234
Finnish	0.00425	0.00426
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.00246	0.00234
South Asian	0.000206	0.000196
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the binding between sperm and oocytes. Component of epididymosomes, one type of membranous microvesicules which mediate the transfer of lipids and proteins to spermatozoa plasma membrane during epididymal maturation. Also component of the CD9-positive microvesicules found in the cauda region. {ECO:0000250|UniProtKB:Q32LB5, ECO:0000250|UniProtKB:Q9DAG6}.

Recessive Scores

• pRec: 0.0643

Intolerance Scores

• loftool: 0.848
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.0464
• hipred: N
• hipred_score: 0.146
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.273

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Glipr1l3

Gene ontology

• Biological process: single fertilization
• Cellular component: acrosomal vesicle;extracellular space;plasma membrane;anchored component of membrane;membrane raft