FCHSD1

FCH and double SH3 domains 1, the group of F-BAR domain containing

Basic information

Region (hg38): 5:141639302-141651418

Links

ENSG00000197948 ∙ NCBI:89848 ∙ OMIM:617555 ∙ HGNC:25463 ∙ Uniprot:Q86WN1 ∙ 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 FCHSD1 gene.

• not_specified (106 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCHSD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033449.3. 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				1		1
missense			104	2		106
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	104	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCHSD1	protein_coding	protein_coding	ENST00000435817	20	12118

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.35e-31	0.0000308	123956	5	699	124660	0.00283

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.798	358	403	0.888	0.0000251	4368
Missense in Polyphen		125	132.86	0.94085		1522
Synonymous	1.97	129	161	0.802	0.00000913	1418
Loss of Function	-0.0655	47	46.5	1.01	0.00000288	447

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00271	0.00268
Ashkenazi Jewish	0.000200	0.000199
East Asian	0.00167	0.00167
Finnish	0.0136	0.0116
European (Non-Finnish)	0.00311	0.00267
Middle Eastern	0.00167	0.00167
South Asian	0.00184	0.00147
Other	0.00285	0.00231

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0882

Intolerance Scores

• loftool: 0.949
• rvis_EVS: 0.23
• rvis_percentile_EVS: 68.54

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.170
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.541

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fchsd1

Gene ontology

• Biological process: neuromuscular synaptic transmission;regulation of actin filament polymerization
• Cellular component: neuromuscular junction;recycling endosome