FKBPL

protein-coding

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

Gene summary

The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008]

MANE transcript

NM_022110.4

Inheritance

—

ClinVar variants

U:35B:6

Top phenotype

FKBPL-related disorder

gnomAD constraint

pLI —, LoF o/e 1.07

Max pathogenic AF

—

Genomic locus

chr6:32,128,707-32,130,288

External References & Databases

Ensembl (ENSG00000204315)

Transcript & Mutation Effects

hg38 • Region Span ~1.6 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FKBPL variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 34

FKBPL-related disorderTotal: 5

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022110.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			33 clinvar	3 clinvar	1 clinvar	37
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	35	5	1	41

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022110.4	RefSeq	NP_071393.2	1	MANE Select
ENST00000375156.4	Ensembl	ENSP00000364298.3	1	MANE Select
ENST00000887777.1	Ensembl	ENSP00000557836.1	1	Standard
ENST00000887777.2	Ensembl	ENSP00000557836.1	1	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
fkbpl	Danio rerio	Structure: dorsal longitudinal anastomotic vessel Quality: malformed abnormal

Gene / Model

Organism

Observed Phenotype

fkbpl

Danio rerio

Structure: dorsal longitudinal anastomotic vessel

Quality: malformed

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

The role of GTSE1 in G2/M progression after G2 checkpoint
G2/M Transition
Mitotic G2-G2/M phases
Cell Cycle
Cell Cycle, Mitotic

Biological Process

response to radiation
protein stabilization
regulation of blood vessel branching

Molecular Function

protein binding

Cellular Component

extracellular region
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375156
Coding exons: 1
Length: 1585
Individuals with no LoFs: 125716
Homozygous LoFs: 0
Heterozygous LoFs: 32
Defined: 125748
p: 0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.42	136	191	0.711	0.0000116	2226
Missense (PolyPhen)		43	64.771	0.66388		717
Synonymous	1.84	56	76.5	0.732	0.00000415	765
Loss of Function	-0.226	15	14.1	1.07	0.00000112	132

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00018	0.00018	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Intolerance Scores

LoFtool: 0.650
RVIS EVS: 0.22
RVIS percentile EVS: 68.13

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.865

Gene Damage Prediction

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