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.

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.

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				2		2
missense			14	1	2	17
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	4	2

Variants in FKBPL

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

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

Position	Type	Phenotype	Significance	ClinVar
6-32128751-G-A		FKBPL-related disorder	Likely benign (Mar 12, 2019)
6-32128806-T-A		not specified	Uncertain significance (Jan 18, 2022)
6-32128838-T-C		not specified	Likely benign (Mar 29, 2024)
6-32128895-G-C		not specified	Uncertain significance (Jun 10, 2024)
6-32128980-C-A		not specified	Uncertain significance (Jun 02, 2023)
6-32129089-C-T		not specified	Uncertain significance (Jun 24, 2022)
6-32129102-C-T		not specified	Uncertain significance (Apr 19, 2023)
6-32129173-G-A		not specified	Uncertain significance (Jul 12, 2022)
6-32129183-C-G		not specified	Uncertain significance (Mar 13, 2023)
6-32129219-T-C		not specified	Uncertain significance (Aug 02, 2022)
6-32129239-G-C		not specified	Uncertain significance (Nov 18, 2022)
6-32129291-A-G		FKBPL-related disorder	Likely benign (Feb 21, 2019)
6-32129293-C-T		not specified	Uncertain significance (Apr 26, 2023)
6-32129381-C-T		not specified	Uncertain significance (Mar 08, 2024)
6-32129443-T-C		not specified	Uncertain significance (Jan 03, 2024)
6-32129513-C-T		FKBPL-related disorder	Benign (Oct 28, 2019)
6-32129540-G-C		not specified	Uncertain significance (Mar 07, 2024)
6-32129540-G-GAGACTTATGAGA		FKBPL-related disorder	Likely benign (Dec 05, 2019)
6-32129557-C-A		not specified	Uncertain significance (May 26, 2022)
6-32129644-G-C		FKBPL-related disorder	Likely benign (Feb 21, 2019)
6-32129666-G-A		not specified	Uncertain significance (Feb 10, 2022)
6-32129698-T-C		FKBPL-related disorder	Benign (May 13, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FKBPL	protein_coding	protein_coding	ENST00000375156	1	1585

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.95e-11	0.0405	125716	0	32	125748	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.42	136	191	0.711	0.0000116	2226
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000176	0.000176
Middle Eastern	0.000217	0.000217
South Asian	0.0000327	0.0000327
Other	0.00	0.00

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

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

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