FKBP11

FKBP prolyl isomerase 11, the group of FKBP prolyl isomerases

Basic information

Region (hg38): 12:48921518-48926474

Links

ENSG00000134285 ∙ NCBI:51303 ∙ OMIM:610571 ∙ HGNC:18624 ∙ Uniprot:Q9NYL4 ∙ 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 FKBP11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FKBP11 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in FKBP11

This is a list of pathogenic ClinVar variants found in the FKBP11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-48922031-T-C		not specified	Uncertain significance (Nov 07, 2024)
12-48922075-A-G		not specified	Uncertain significance (Apr 13, 2023)
12-48922124-T-C		not specified	Uncertain significance (Dec 20, 2023)
12-48922132-A-C		not specified	Uncertain significance (Jan 16, 2024)
12-48922156-C-T		not specified	Uncertain significance (May 26, 2023)
12-48922201-G-A		not specified	Uncertain significance (Jul 14, 2021)
12-48923806-G-A		not specified	Uncertain significance (Oct 06, 2022)
12-48924235-T-G		not specified	Uncertain significance (May 02, 2024)
12-48924582-C-T		not specified	Uncertain significance (Mar 01, 2024)
12-48924635-T-C		not specified	Uncertain significance (Sep 08, 2024)
12-48924640-C-G		not specified	Uncertain significance (Aug 05, 2023)
12-48925056-A-C		not specified	Uncertain significance (Aug 23, 2021)
12-48925095-G-A		not specified	Uncertain significance (Oct 20, 2024)
12-48925335-C-G		not specified	Uncertain significance (Apr 26, 2023)
12-48925371-C-G		not specified	Uncertain significance (Mar 01, 2024)
12-48925372-A-T		not specified	Uncertain significance (Oct 06, 2021)
12-48925410-G-T		not specified	Uncertain significance (Oct 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FKBP11	protein_coding	protein_coding	ENST00000550765	6	4957

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.46e-7	0.274	125635	1	112	125748	0.000449

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0741	115	113	1.02	0.00000564	1258
Missense in Polyphen		47	40.184	1.1696		431
Synonymous	0.323	42	44.8	0.939	0.00000213	423
Loss of Function	0.278	10	11.0	0.909	6.34e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00131	0.00130
Ashkenazi Jewish	0.00144	0.00139
East Asian	0.000272	0.000272
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.000272	0.000272
South Asian	0.000918	0.000850
Other	0.000336	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: PPIases accelerate the folding of proteins during protein synthesis.

Recessive Scores

• pRec: 0.121

Intolerance Scores

• loftool: 0.633
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.369
• hipred: N
• hipred_score: 0.224
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fkbp11
• Phenotype: skeleton phenotype; immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: protein peptidyl-prolyl isomerization
• Cellular component: membrane;integral component of membrane
• Molecular function: peptidyl-prolyl cis-trans isomerase activity