FER1L6

fer-1 like family member 6, the group of Ferlin family

Basic information

Region (hg38): 8:123851987-124120061

Links

ENSG00000214814 ∙ NCBI:654463 ∙ ∙ HGNC:28065 ∙ Uniprot:Q2WGJ9 ∙ 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 FER1L6 gene.

• not_specified (234 variants)
• not_provided (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FER1L6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039112.2. 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				3	6	9
missense			224	12	4	240
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	224	15	10

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FER1L6	protein_coding	protein_coding	ENST00000522917	40	268076

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.13e-43	0.00243	124888	8	852	125748	0.00343

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.725	942	1.01e+3	0.936	0.0000527	12280
Missense in Polyphen		343	397.18	0.86358		4883
Synonymous	1.63	347	388	0.895	0.0000222	3468
Loss of Function	1.94	77	97.7	0.788	0.00000498	1164

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00559	0.00545
Ashkenazi Jewish	0.00269	0.00268
East Asian	0.00336	0.00327
Finnish	0.000417	0.000416
European (Non-Finnish)	0.00183	0.00181
Middle Eastern	0.00336	0.00327
South Asian	0.0129	0.0126
Other	0.00463	0.00457

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.225
• rvis_EVS: -0.13
• rvis_percentile_EVS: 44.06

Haploinsufficiency Scores

• pHI: 0.420
• hipred: N
• hipred_score: 0.267

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.127

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fer1l6

Gene ontology

• Biological process: response to bacterium
• Cellular component: integral component of membrane