FNDC7

fibronectin type III domain containing 7, the group of Fibronectin type III domain containing

Basic information

Region (hg38): 1:108712908-108742749

Links

ENSG00000143107 ∙ NCBI:163479 ∙ ∙ HGNC:26668 ∙ Uniprot:Q5VTL7 ∙ 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 FNDC7 gene.

• not_specified (99 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FNDC7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001144937.3. 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		3
missense			95	4		99
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	95	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FNDC7	protein_coding	protein_coding	ENST00000370017	12	30087

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.56e-11	0.801	125045	4	699	125748	0.00280

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.767	355	398	0.892	0.0000204	4720
Missense in Polyphen		129	145.34	0.88757		1731
Synonymous	1.44	131	154	0.852	0.00000846	1480
Loss of Function	1.72	22	32.6	0.675	0.00000164	413

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00797	0.00800
Ashkenazi Jewish	0.00660	0.00627
East Asian	0.000222	0.000217
Finnish	0.0155	0.0155
European (Non-Finnish)	0.00122	0.00120
Middle Eastern	0.000222	0.000217
South Asian	0.000428	0.000425
Other	0.00246	0.00245

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.412
• rvis_EVS: 1.38
• rvis_percentile_EVS: 94.6

Haploinsufficiency Scores

• pHI: 0.349
• hipred: N
• hipred_score: 0.294

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.135

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fndc7
• Phenotype: hearing/vestibular/ear phenotype; homeostasis/metabolism phenotype

Gene ontology

• Cellular component: extracellular region