ESPNL

espin like, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 2:238100340-238133287

Links

ENSG00000144488 ∙ NCBI:339768 ∙ OMIM:619974 ∙ HGNC:27937 ∙ Uniprot:Q6ZVH7 ∙ 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 ESPNL gene.

• not_specified (227 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ESPNL gene is commonly pathogenic or not. These statistics are base on transcript: NM_000194312.4. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			217	10	2	229
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	217	12	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ESPNL	protein_coding	protein_coding	ENST00000343063	9	33131

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.54e-10	0.887	125312	0	92	125404	0.000367

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.494	614	649	0.945	0.0000468	6209
Missense in Polyphen		184	209.89	0.87665		2137
Synonymous	0.122	303	306	0.991	0.0000231	2206
Loss of Function	1.83	20	31.0	0.646	0.00000157	329

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000831	0.000811
Ashkenazi Jewish	0.00	0.00
East Asian	0.000228	0.000218
Finnish	0.0000476	0.0000462
European (Non-Finnish)	0.000474	0.000459
Middle Eastern	0.000228	0.000218
South Asian	0.000298	0.000294
Other	0.000498	0.000490

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing. {ECO:0000250|UniProtKB:Q3UYR4}.

Haploinsufficiency Scores

• pHI: 0.152
• hipred: N
• hipred_score: 0.197
• ghis: 0.487

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Espnl
• Phenotype: homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hearing/vestibular/ear phenotype

Gene ontology

• Biological process: sensory perception of sound;actin filament bundle assembly
• Cellular component: cytoplasm;filamentous actin;stereocilium tip
• Molecular function: actin filament binding