FER1L5

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

Basic information

Region (hg38): 2:96642736-96704887

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.

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.

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					1	1
missense			108	11	1	120
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3	1		4
Total	0	0	111	12	2

Variants in FER1L5

This is a list of pathogenic ClinVar variants found in the FER1L5 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-96642895-G-A		not specified	Uncertain significance (Dec 20, 2023)
2-96642895-G-C		not specified	Uncertain significance (May 05, 2023)
2-96646442-G-A		not specified	Uncertain significance (Aug 17, 2021)
2-96647088-C-T		not specified	Uncertain significance (Aug 02, 2021)
2-96647101-A-C		not specified	Uncertain significance (Mar 07, 2023)
2-96647828-G-A		not specified	Uncertain significance (Dec 03, 2021)
2-96649629-G-A		not specified	Uncertain significance (Jun 16, 2023)
2-96649662-G-T		not specified	Uncertain significance (Feb 16, 2023)
2-96650252-C-T		not specified	Likely benign (Sep 07, 2022)
2-96651928-G-T		not specified	Uncertain significance (May 26, 2024)
2-96651986-G-A		not specified	Uncertain significance (Aug 11, 2022)
2-96652017-T-G		not specified	Uncertain significance (Dec 07, 2021)
2-96653647-T-C		not specified	Uncertain significance (May 01, 2022)
2-96661725-G-C		not specified	Uncertain significance (Sep 01, 2021)
2-96661773-G-A		not specified	Uncertain significance (Aug 22, 2023)
2-96663458-C-A		not specified	Uncertain significance (Oct 06, 2021)
2-96663466-G-A		not specified	Uncertain significance (Feb 17, 2023)
2-96663500-G-A		not specified	Likely benign (Jun 28, 2023)
2-96668888-G-A		not specified	Likely benign (Feb 26, 2024)
2-96668903-C-T		not specified	Uncertain significance (Mar 27, 2023)
2-96668945-C-T		not specified	Uncertain significance (Oct 16, 2023)
2-96668983-G-C		not specified	Uncertain significance (Jun 07, 2023)
2-96668989-A-G		not specified	Likely benign (Mar 18, 2024)
2-96668995-T-C		not specified	Likely benign (Jan 23, 2023)
2-96669045-G-C		not specified	Uncertain significance (Aug 04, 2023)

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