FNDC8

fibronectin type III domain containing 8, the group of Fibronectin type III domain containing

Basic information

Region (hg38): 17:35121615-35130732

Links

ENSG00000073598 ∙ NCBI:54752 ∙ ∙ HGNC:25286 ∙ Uniprot:Q8TC99 ∙ 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 FNDC8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FNDC8 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			35	4		39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	4	0

Variants in FNDC8

This is a list of pathogenic ClinVar variants found in the FNDC8 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-35121721-G-A		not specified	Uncertain significance (Nov 21, 2022)
17-35121743-T-A		not specified	Uncertain significance (Jan 22, 2025)
17-35121758-T-G		not specified	Uncertain significance (Jul 14, 2021)
17-35121767-T-C		not specified	Uncertain significance (Nov 13, 2024)
17-35121814-A-G		Breast-ovarian cancer, familial, susceptibility to, 4	Uncertain significance (May 28, 2019)
17-35121821-G-A		not specified	Uncertain significance (Mar 19, 2024)
17-35121826-G-A		not specified	Uncertain significance (Apr 08, 2022)
17-35121880-G-A		not specified	Uncertain significance (Dec 16, 2022)
17-35127071-G-A		not specified	Uncertain significance (Oct 08, 2024)
17-35127104-C-T		not specified	Uncertain significance (Nov 25, 2024)
17-35127122-C-G		not specified	Uncertain significance (Mar 06, 2025)
17-35127136-G-A		not specified	Uncertain significance (Jan 21, 2025)
17-35127146-C-G		not specified	Uncertain significance (Mar 07, 2023)
17-35127167-G-A		not specified	Uncertain significance (Apr 24, 2024)
17-35127208-A-G		not specified	Likely benign (Oct 05, 2022)
17-35127232-G-A		not specified	Uncertain significance (Mar 07, 2024)
17-35127239-C-T		not specified	Uncertain significance (Jun 11, 2021)
17-35127268-T-A		not specified	Uncertain significance (Feb 11, 2022)
17-35127272-A-T		not specified	Uncertain significance (Jul 26, 2024)
17-35127284-G-T		not specified	Uncertain significance (Feb 07, 2025)
17-35127287-G-A		not specified	Uncertain significance (Nov 15, 2021)
17-35127305-A-G		not specified	Uncertain significance (Jul 19, 2022)
17-35127335-C-T		not specified	Uncertain significance (May 18, 2023)
17-35127346-T-A		not specified	Uncertain significance (Jul 17, 2023)
17-35127368-C-T		not specified	Uncertain significance (Aug 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FNDC8	protein_coding	protein_coding	ENST00000158009	4	9154

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000171	0.707	125658	0	90	125748	0.000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.425	168	184	0.912	0.0000104	2116
Missense in Polyphen		54	56.1	0.96256		641
Synonymous	0.0817	79	79.9	0.988	0.00000471	648
Loss of Function	0.915	7	10.1	0.690	4.28e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000246
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000326	0.000323
European (Non-Finnish)	0.000533	0.000519
Middle Eastern	0.00	0.00
South Asian	0.000555	0.000555
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.796
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.43

Haploinsufficiency Scores

• pHI: 0.170
• hipred: N
• hipred_score: 0.123
• ghis: 0.515

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0980

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fndc8

Gene ontology

• Cellular component: nucleus