FKBP7

protein-coding

FKBP prolyl isomerase 7, the group of FKBP prolyl isomerases|EF-hand domain containing

Gene summary

The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]

MANE transcript

NM_181342.3

Inheritance

—

ClinVar variants

U:34B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.06

Max pathogenic AF

—

Genomic locus

chr2:178,463,664-178,478,600

External References & Databases

Ensembl (ENSG00000079150)

Transcript & Mutation Effects

hg38 • Region Span ~14.9 kb

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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 FKBP7 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 34

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_181342.3. 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						0
missense			33 clinvar	1 clinvar		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	34	1	0	35

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_181342.3	RefSeq	NP_851939.1	4	MANE Select
ENST00000424785.7	Ensembl	ENSP00000413152.2	4	MANE Select
NM_001135212.2	RefSeq	NP_001128684.1	4	Standard
NM_001410972.1	RefSeq	NP_001397901.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein peptidyl-prolyl isomerization

Molecular Function

peptidyl-prolyl cis-trans isomerase activity
calcium ion binding
protein binding

Cellular Component

endoplasmic reticulum lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000424785
Coding exons: 4
Length: 14937
Individuals with no LoFs: 125352
Homozygous LoFs: 1
Heterozygous LoFs: 395
Defined: 125748
p: 0.00158

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0861	119	122	0.978	0.00000613	1485
Missense (PolyPhen)		46	53.208	0.86453		604
Synonymous	0.818	36	42.8	0.841	0.00000224	387
Loss of Function	-0.165	11	10.4	1.05	5.25e-7	129

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00093	0.00092	rare
Latino/Admixed American	0.0014	0.0014	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.00083	0.00083	rare
European (Non-Finnish)	0.0020	0.0020	notable
South Asian	0.0026	0.0026	notable
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.0920

Intolerance Scores

LoFtool: 0.584
RVIS EVS: -0.45
RVIS percentile EVS: 24

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.553

Gene Damage Prediction

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