GeneBe

FKBPL

FKBP prolyl isomerase like, the group of FKBP prolyl isomerases|Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 6:32128707-32130288

Links

ENSG00000204315 ∙ NCBI:63943 ∙ OMIM:617076 ∙ HGNC:13949 ∙ Uniprot:Q9UIM3 ∙ 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 FKBPL gene.

  • not_specified (33 variants)
  • FKBPL-related_disorder (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FKBPL gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022110.4. 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
31
clinvar
3
clinvar
1
clinvar
 35
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 31 5 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FKBPLprotein_codingprotein_codingENST00000375156 11585
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.95e-110.04051257160321257480.000127
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.421361910.7110.00001162226
Missense in Polyphen4364.7710.66388717
Synonymous1.845676.50.7320.00000415765
Loss of Function-0.2261514.11.070.00000112132

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002100.000210
Ashkenazi Jewish0.000.00
East Asian0.0002170.000217
Finnish0.00009240.0000924
European (Non-Finnish)0.0001760.000176
Middle Eastern0.0002170.000217
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21. {ECO:0000269|PubMed:15664193}.;
Pathway
The role of GTSE1 in G2/M progression after G2 checkpoint;G2/M Transition;Mitotic G2-G2/M phases;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Intolerance Scores

loftool
0.650
rvis_EVS
0.22
rvis_percentile_EVS
68.13

Haploinsufficiency Scores

pHI
0.200
hipred
N
hipred_score
0.153
ghis
0.491

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.865

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fkbpl
Phenotype
neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Zebrafish Information Network

Gene name
fkbpl
Affected structure
dorsal longitudinal anastomotic vessel
Phenotype tag
abnormal
Phenotype quality
malformed

Gene ontology

Biological process
response to radiation;protein stabilization;regulation of blood vessel branching
Cellular component
extracellular region;cytosol
Molecular function
protein binding