FCHSD2

FCH and double SH3 domains 2, the group of F-BAR domain containing

Basic information

Region (hg38): 11:72836745-73142318

Previous symbols: [ "SH3MD3" ]

Links

ENSG00000137478NCBI:9873OMIM:617556HGNC:29114Uniprot:O94868AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FCHSD2 gene.

  • not_specified (84 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCHSD2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014824.3. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
84
clinvar
1
clinvar
85
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 84 0 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FCHSD2protein_codingprotein_codingENST00000409418 20305517
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5660.4341255770161255930.0000637
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.842893920.7380.00002124839
Missense in Polyphen68130.570.520791750
Synonymous0.4241341400.9540.000007581341
Loss of Function4.951046.40.2160.00000252548

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009050.0000904
Ashkenazi Jewish0.00009930.0000993
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001100.000106
Middle Eastern0.000.00
South Asian0.000.00
Other0.0001660.000163

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.113

Intolerance Scores

loftool
0.846
rvis_EVS
-0.89
rvis_percentile_EVS
10.37

Haploinsufficiency Scores

pHI
0.400
hipred
Y
hipred_score
0.595
ghis
0.599

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.964

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fchsd2
Phenotype

Gene ontology

Biological process
neuromuscular synaptic transmission;regulation of actin filament polymerization
Cellular component
neuromuscular junction;recycling endosome
Molecular function
protein binding