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.

• not_specified (34 variants)
• FKBPL-related_disorder (5 variants)

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. These statistics are base on transcript: NM_000022110.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			32	3	1	36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	33	5	1

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
		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

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

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