FKBP7

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

Basic information

Region (hg38): 2:178463664-178478600

Links

ENSG00000079150 ∙ NCBI:51661 ∙ OMIM:607062 ∙ HGNC:3723 ∙ Uniprot:Q9Y680 ∙ 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 FKBP7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FKBP7 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			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in FKBP7

This is a list of pathogenic ClinVar variants found in the FKBP7 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-178465885-C-T		not specified	Uncertain significance (Aug 01, 2024)
2-178465904-C-G		not specified	Uncertain significance (Nov 27, 2023)
2-178469654-C-T		not specified	Uncertain significance (Dec 31, 2024)
2-178469659-T-A		not specified	Uncertain significance (Jun 29, 2023)
2-178469682-C-T		not specified	Uncertain significance (Oct 26, 2022)
2-178469701-G-A		not specified	Uncertain significance (Feb 21, 2024)
2-178469713-C-T		not specified	Uncertain significance (Apr 27, 2024)
2-178469714-G-A		not specified	Uncertain significance (Feb 16, 2023)
2-178469743-A-G		not specified	Uncertain significance (Dec 03, 2021)
2-178469747-C-T		not specified	Uncertain significance (Oct 21, 2024)
2-178469753-T-A		not specified	Uncertain significance (Apr 22, 2024)
2-178469767-G-A		not specified	Uncertain significance (Apr 07, 2023)
2-178477101-C-G		not specified	Uncertain significance (Aug 14, 2023)
2-178477122-G-A		not specified	Uncertain significance (Dec 03, 2021)
2-178477143-T-C		not specified	Uncertain significance (Feb 28, 2023)
2-178477149-G-T		not specified	Uncertain significance (Feb 05, 2024)
2-178477173-C-G		not specified	Uncertain significance (Jan 22, 2025)
2-178477187-T-C		not specified	Uncertain significance (Sep 16, 2021)
2-178477196-C-T		not specified	Uncertain significance (Oct 26, 2024)
2-178477200-C-T		not specified	Uncertain significance (Jan 08, 2024)
2-178478465-A-G		not specified	Uncertain significance (Dec 11, 2024)
2-178478466-T-A		not specified	Uncertain significance (Mar 04, 2024)
2-178478467-G-C		not specified	Likely benign (Nov 13, 2024)
2-178478490-T-A		not specified	Uncertain significance (Jun 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FKBP7	protein_coding	protein_coding	ENST00000424785	4	14937

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.18e-8	0.114	125352	1	395	125748	0.00158

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0861	119	122	0.978	0.00000613	1485
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00229	0.00228
Ashkenazi Jewish	0.00	0.00
East Asian	0.000165	0.000163
Finnish	0.000832	0.000832
European (Non-Finnish)	0.00200	0.00200
Middle Eastern	0.000165	0.000163
South Asian	0.00264	0.00255
Other	0.00130	0.00130

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0675
• hipred: N
• hipred_score: 0.350
• ghis: 0.631

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.553

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fkbp7

Gene ontology

• Biological process: protein peptidyl-prolyl isomerization
• Cellular component: endoplasmic reticulum lumen
• Molecular function: peptidyl-prolyl cis-trans isomerase activity;calcium ion binding;protein binding