FRMD6

FERM domain containing 6, the group of FERM domain containing

Basic information

Region (hg38): 14:51489099-51730727

Previous symbols: [ "C14orf31" ]

Links

ENSG00000139926 ∙ NCBI:122786 ∙ OMIM:614555 ∙ HGNC:19839 ∙ Uniprot:Q96NE9 ∙ 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 FRMD6 gene.

• Inborn genetic diseases (25 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FRMD6 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	3	4
missense			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	1	3

Variants in FRMD6

This is a list of pathogenic ClinVar variants found in the FRMD6 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-51689874-A-G		not specified	Uncertain significance (Jul 09, 2021)
14-51689882-C-T		not specified	Uncertain significance (Jan 17, 2023)
14-51698169-G-A		not specified	Uncertain significance (Mar 01, 2023)
14-51698170-T-G		not specified	Uncertain significance (Jan 10, 2023)
14-51701083-C-T		not specified	Uncertain significance (Aug 10, 2021)
14-51704801-C-T		not specified	Uncertain significance (Nov 09, 2023)
14-51704916-A-G		not specified	Uncertain significance (Mar 04, 2024)
14-51708162-G-A		not specified	Uncertain significance (Apr 20, 2023)
14-51708181-A-G		not specified	Uncertain significance (Jan 31, 2022)
14-51708204-G-A		not specified	Uncertain significance (Aug 17, 2022)
14-51708207-G-A		not specified	Uncertain significance (Jan 09, 2024)
14-51708228-T-C		not specified	Uncertain significance (Jan 29, 2024)
14-51712487-T-C		not specified	Uncertain significance (Nov 09, 2023)
14-51712492-G-A		not specified	Uncertain significance (Dec 15, 2022)
14-51715343-T-G		not specified	Uncertain significance (Oct 20, 2023)
14-51715446-A-G		not specified	Uncertain significance (Nov 17, 2022)
14-51715486-G-C			Likely benign (Feb 27, 2018)
14-51720077-T-C			Benign (May 09, 2018)
14-51720094-T-C		not specified	Uncertain significance (Mar 02, 2023)
14-51720110-C-A		not specified	Uncertain significance (Jan 30, 2024)
14-51720124-G-T		not specified	Uncertain significance (Jun 21, 2021)
14-51720148-C-T		not specified	Uncertain significance (Sep 06, 2022)
14-51720177-C-T		not specified	Uncertain significance (Jan 29, 2024)
14-51720178-G-A		not specified	Uncertain significance (May 30, 2023)
14-51720214-C-T		not specified	Uncertain significance (Aug 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FRMD6	protein_coding	protein_coding	ENST00000344768	13	241628

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0279	0.972	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.265	345	359	0.961	0.0000207	4133
Missense in Polyphen		105	125.45	0.837		1457
Synonymous	0.382	128	134	0.958	0.00000742	1131
Loss of Function	3.74	9	31.7	0.284	0.00000158	393

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000869	0.0000869
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000891	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Hippo signaling pathway - Homo sapiens (human);Hippo signaling pathway - multiple species - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.155

Intolerance Scores

• loftool: 0.161
• rvis_EVS: -0.91
• rvis_percentile_EVS: 10.03

Haploinsufficiency Scores

• pHI: 0.366
• hipred: N
• hipred_score: 0.475
• ghis: 0.580

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.710

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Frmd6

Gene ontology

• Biological process: apical constriction;actomyosin structure organization;regulation of actin filament-based process;cellular protein localization
• Cellular component: cytoplasm;cytoskeleton;plasma membrane;apical junction complex
• Molecular function: protein binding