EQTN

equatorin

Basic information

Region (hg38): 9:27284654-27297150

Previous symbols: [ "C9orf11" ]

Links

ENSG00000120160 ∙ NCBI:54586 ∙ OMIM:617653 ∙ HGNC:1359 ∙ Uniprot:Q9NQ60 ∙ 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 EQTN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EQTN 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in EQTN

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

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

Position	Type	Phenotype	Significance	ClinVar
9-27284727-C-T		not specified	Uncertain significance (Apr 15, 2024)
9-27284744-G-C		not specified	Uncertain significance (Mar 07, 2023)
9-27284792-T-C		not specified	Likely benign (Aug 08, 2023)
9-27284868-G-A		not specified	Uncertain significance (Jun 09, 2022)
9-27284880-A-T		not specified	Uncertain significance (Jan 03, 2024)
9-27284899-C-T		not specified	Uncertain significance (May 30, 2023)
9-27284955-C-T		not specified	Uncertain significance (Jul 25, 2023)
9-27286266-A-G		not specified	Uncertain significance (Jul 16, 2021)
9-27286290-C-T		not specified	Uncertain significance (May 31, 2023)
9-27286300-T-C		not specified	Uncertain significance (May 11, 2022)
9-27286329-T-C		not specified	Uncertain significance (Feb 02, 2022)
9-27286339-C-T		not specified	Uncertain significance (Oct 06, 2022)
9-27289674-G-A		not specified	Uncertain significance (Aug 14, 2023)
9-27289702-C-T		not specified	Uncertain significance (Mar 06, 2023)
9-27292431-T-C		not specified	Uncertain significance (Jun 16, 2024)
9-27292466-G-C		not specified	Uncertain significance (Jan 05, 2022)
9-27292470-T-C		not specified	Uncertain significance (Dec 11, 2023)
9-27294318-T-C		not specified	Uncertain significance (Mar 28, 2024)
9-27294327-G-A		not specified	Uncertain significance (Jun 02, 2023)
9-27294350-T-A		not specified	Uncertain significance (Jul 20, 2021)
9-27294397-A-T		not specified	Uncertain significance (May 27, 2022)
9-27296694-C-T		not specified	Uncertain significance (Feb 26, 2024)
9-27297044-T-C		not specified	Uncertain significance (Mar 02, 2023)
9-27297048-A-T		not specified	Uncertain significance (Mar 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EQTN	protein_coding	protein_coding	ENST00000380032	8	12482

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.42e-12	0.00844	125673	0	69	125742	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.346	163	151	1.08	0.00000722	1939
Missense in Polyphen		44	37.403	1.1764		503
Synonymous	0.207	54	56.0	0.965	0.00000302	545
Loss of Function	-1.08	15	11.1	1.35	4.68e-7	153

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000345	0.0000345
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000588	0.000563
Middle Eastern	0.00	0.00
South Asian	0.000105	0.0000980
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis. {ECO:0000250}.

Recessive Scores

• pRec: 0.0638

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.31

Haploinsufficiency Scores

• pHI: 0.0362
• hipred: N
• hipred_score: 0.123
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eqtn

Gene ontology

• Biological process: endocytosis;fusion of sperm to egg plasma membrane involved in single fertilization;acrosomal vesicle exocytosis
• Cellular component: inner acrosomal membrane;acrosomal membrane;outer acrosomal membrane;plasma membrane;integral component of membrane