FER1L5

fer-1 like family member 5, the group of Ferlin family

Basic information

Region (hg38): 2:96642737-96704887

Links

ENSG00000249715 ∙ NCBI:90342 ∙ ∙ HGNC:19044 ∙ Uniprot:A0AVI2 ∙ 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 FER1L5 gene.

• not_specified (223 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FER1L5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001293083.2. 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					1	1
missense			196	20		216
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	196	20	1

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation. {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.161

Mouse Genome Informatics

• Gene name: Fer1l5

Gene ontology

• Biological process: myoblast fusion
• Cellular component: plasma membrane;integral component of membrane