FSTL5

follistatin like 5, the group of I-set domain containing|EF-hand domain containing

Basic information

Region (hg38): 4:161383897-162164004

Links

ENSG00000168843NCBI:56884OMIM:620128HGNC:21386Uniprot:Q8N475AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FSTL5 gene.

  • not_specified (104 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSTL5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020116.5. 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
0
missense
104
clinvar
104
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 104 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FSTL5protein_codingprotein_codingENST00000306100 15780139
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000001401.001257130331257460.000131
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.04704264290.9940.00002025587
Missense in Polyphen227226.681.00143030
Synonymous-0.2491611571.030.000007871551
Loss of Function3.421740.50.4200.00000208510

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003090.000307
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.00004620.0000462
European (Non-Finnish)0.0001260.000123
Middle Eastern0.0002180.000217
South Asian0.0001660.000163
Other0.0003260.000326

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0975

Intolerance Scores

loftool
0.852
rvis_EVS
0.54
rvis_percentile_EVS
81.07

Haploinsufficiency Scores

pHI
0.185
hipred
N
hipred_score
0.492
ghis
0.517

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.216

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fstl5
Phenotype

Gene ontology

Biological process
Cellular component
extracellular region
Molecular function
calcium ion binding;protein binding