FNDC5

fibronectin type III domain containing 5, the group of Fibronectin type III domain containing

Basic information

Region (hg38): 1:32862267-32872482

Links

ENSG00000160097 ∙ NCBI:252995 ∙ OMIM:611906 ∙ HGNC:20240 ∙ Uniprot:Q8NAU1 ∙ 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 FNDC5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FNDC5 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						0
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	10	0	2

Variants in FNDC5

This is a list of pathogenic ClinVar variants found in the FNDC5 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-32862564-G-A			Benign (Feb 24, 2021)
1-32864624-G-A		not specified	Uncertain significance (Oct 03, 2022)
1-32864671-C-T		not specified	Uncertain significance (Aug 17, 2021)
1-32864684-C-T		not specified	Uncertain significance (Dec 28, 2022)
1-32864696-C-G		not specified	Uncertain significance (May 24, 2023)
1-32864725-G-A		not specified	Uncertain significance (Feb 23, 2023)
1-32864743-T-C		not specified	Uncertain significance (Sep 17, 2021)
1-32867503-G-A			Benign (Feb 18, 2020)
1-32867800-C-T		not specified	Uncertain significance (Aug 02, 2022)
1-32867828-T-C		not specified	Uncertain significance (Dec 19, 2023)
1-32868223-G-T		not specified	Uncertain significance (May 24, 2024)
1-32868336-C-T		not specified	Uncertain significance (Dec 12, 2023)
1-32868337-G-A		not specified	Uncertain significance (Apr 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FNDC5	protein_coding	protein_coding	ENST00000609187	4	10215

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.546	0.442	125738	0	8	125746	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.603	73	89.0	0.820	0.00000543	907
Missense in Polyphen		32	42.165	0.75893		408
Synonymous	0.854	28	34.4	0.815	0.00000215	256
Loss of Function	2.00	1	6.53	0.153	2.77e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000173	0.000173
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Irisin: Contrary to mouse, may not be involved in the beneficial effects of muscular exercise, nor in the induction of browning of human white adipose tissue. {ECO:0000269|PubMed:24040023}.

Recessive Scores

• pRec: 0.154

Intolerance Scores

• loftool: 0.224
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.42

Haploinsufficiency Scores

• pHI: 0.740
• hipred: N
• hipred_score: 0.492
• ghis: 0.674

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.330

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fndc5

Gene ontology

• Biological process: biological_process;regulation of signaling receptor activity;response to muscle activity;positive regulation of brown fat cell differentiation
• Cellular component: extracellular region;peroxisomal membrane;endoplasmic reticulum;plasma membrane;integral component of membrane
• Molecular function: molecular_function;hormone activity