FNDC11

fibronectin type III domain containing 11

Basic information

Region (hg38): 20:63547891-63556695

Previous symbols: [ "C20orf195" ]

Links

ENSG00000125531 ∙ NCBI:79025 ∙ ∙ HGNC:28764 ∙ Uniprot:Q9BVV2 ∙ 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 FNDC11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FNDC11 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in FNDC11

This is a list of pathogenic ClinVar variants found in the FNDC11 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-63555850-C-T		not specified	Uncertain significance (Nov 09, 2021)
20-63556454-C-T		not specified	Uncertain significance (Oct 18, 2021)
20-63556499-A-G		not specified	Uncertain significance (Sep 01, 2021)
20-63556547-C-T		not specified	Uncertain significance (Oct 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FNDC11	protein_coding	protein_coding	ENST00000370098	1	3689

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000217	0.502	125676	0	54	125730	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.424	198	216	0.919	0.0000156	2031
Missense in Polyphen		56	62.166	0.90081		718
Synonymous	0.0436	102	103	0.995	0.00000768	692
Loss of Function	0.574	8	9.95	0.804	7.12e-7	84

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00128	0.00128
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000132
Middle Eastern	0.000109	0.000109
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.28

Haploinsufficiency Scores

• pHI: 0.171
• hipred: N
• hipred_score: 0.170
• ghis: 0.439

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fndc11
• Phenotype: normal phenotype

Gene ontology

• Molecular function: protein binding