EPB41L5

erythrocyte membrane protein band 4.1 like 5, the group of FERM domain containing

Basic information

Region (hg38): 2:120013077-120179119

Links

ENSG00000115109 ∙ NCBI:57669 ∙ OMIM:611730 ∙ HGNC:19819 ∙ Uniprot:Q9HCM4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 24.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
ENST00000263713.10	ENSP00000263713.5	24	yes	-
ENST00000331393.8	ENSP00000329687.4	16	-	-
ENST00000443124.5	ENSP00000393722.1	16	-	-
ENST00000443902.6	ENSP00000393856.2	23	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EPB41L5 gene.

• not_specified (103 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPB41L5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020909.4. 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			103	6		109
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8			8
Total	0	0	111	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPB41L5	protein_coding	protein_coding	ENST00000263713	24	166115

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.155	386	395	0.978	0.0000206	4788
Missense in Polyphen		116	155.44	0.74625		1837
Synonymous	-0.109	143	141	1.01	0.00000733	1399
Loss of Function	4.73	13	48.6	0.268	0.00000277	555

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000154	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000221	0.000217
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000186	0.000185
Middle Eastern	0.000221	0.000217
South Asian	0.000199	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells. {ECO:0000269|PubMed:17920587}.
• Pathway: Endoderm Differentiation;Mesodermal Commitment Pathway;Neuronal System;Neurexins and neuroligins;Protein-protein interactions at synapses (Consensus)

Recessive Scores

• pRec: 0.0911

Intolerance Scores

• loftool: 0.0844
• rvis_EVS: 0.05
• rvis_percentile_EVS: 57.48

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.349

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: epb41l5
• Affected structure: retinal ganglion cell
• Phenotype tag: abnormal
• Phenotype quality: increased distribution

Gene ontology

• Biological process: in utero embryonic development;epithelial to mesenchymal transition;neural plate morphogenesis;apical constriction;substrate-dependent cell migration, cell attachment to substrate;ectoderm development;endoderm development;mesoderm migration involved in gastrulation;unidimensional cell growth;posttranscriptional regulation of gene expression;positive regulation of epithelial cell migration;positive regulation of epithelial to mesenchymal transition;negative regulation of cell-cell adhesion;actomyosin structure organization;negative regulation of protein binding;positive regulation of protein binding;somite rostral/caudal axis specification;axial mesoderm morphogenesis;paraxial mesoderm development;embryonic foregut morphogenesis;positive regulation of focal adhesion assembly;regulation of establishment of protein localization;left/right axis specification;cellular response to transforming growth factor beta stimulus
• Cellular component: nucleus;cytosol;cytoskeleton;plasma membrane;focal adhesion;ruffle membrane
• Molecular function: cytoskeletal protein binding;protein domain specific binding