FSIP1

fibrous sheath interacting protein 1

Basic information

Region (hg38): 15:39588357-39782841

Links

ENSG00000150667NCBI:161835OMIM:615795HGNC:21674Uniprot:Q8NA03AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FSIP1 gene.

  • not_specified (82 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSIP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152597.5. 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
1
clinvar
1
missense
73
clinvar
9
clinvar
1
clinvar
83
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 73 10 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FSIP1protein_codingprotein_codingENST00000350221 11182800
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.70e-140.066112544803001257480.00119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4373092881.070.00001383847
Missense in Polyphen8075.9841.05281073
Synonymous0.4329499.50.9450.000004821020
Loss of Function0.5702225.10.8770.00000105378

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009110.000912
Ashkenazi Jewish0.000.00
East Asian0.0005020.000489
Finnish0.0007400.000739
European (Non-Finnish)0.001980.00197
Middle Eastern0.0005020.000489
South Asian0.0009960.000980
Other0.0006520.000652

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0765

Intolerance Scores

loftool
0.919
rvis_EVS
1.56
rvis_percentile_EVS
95.66

Haploinsufficiency Scores

pHI
0.0918
hipred
N
hipred_score
0.153
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.781

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fsip1
Phenotype