PLEKHB1

pleckstrin homology domain containing B1, the group of Pleckstrin homology domain containing

Basic information

Region (hg38): 11:73646178-73662819

Previous symbols: [ "PHRET1" ]

Links

ENSG00000021300 ∙ NCBI:58473 ∙ OMIM:607651 ∙ HGNC:19079 ∙ Uniprot:Q9UF11 ∙ 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 PLEKHB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLEKHB1 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in PLEKHB1

This is a list of pathogenic ClinVar variants found in the PLEKHB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-73646621-G-A		not specified	Likely benign (Aug 20, 2024)
11-73649021-G-T		not specified	Uncertain significance (May 26, 2024)
11-73649069-G-A		not specified	Uncertain significance (Mar 23, 2023)
11-73650576-C-T		not specified	Uncertain significance (Mar 01, 2023)
11-73650613-G-C		not specified	Uncertain significance (Jan 17, 2024)
11-73650642-G-A		not specified	Uncertain significance (Sep 22, 2022)
11-73650648-G-T		not specified	Uncertain significance (Nov 13, 2024)
11-73650669-A-G		not specified	Uncertain significance (Aug 14, 2024)
11-73650680-C-A		not specified	Uncertain significance (Jun 29, 2023)
11-73653010-C-T		not specified	Uncertain significance (May 04, 2022)
11-73655806-C-T		not specified	Uncertain significance (Dec 03, 2021)
11-73655815-G-A		not specified	Uncertain significance (May 05, 2023)
11-73655836-C-T		not specified	Uncertain significance (Nov 14, 2024)
11-73655837-G-T		not specified	Uncertain significance (Jan 02, 2024)
11-73655839-C-T		not specified	Uncertain significance (Nov 27, 2023)
11-73655870-G-A		not specified	Uncertain significance (Jul 02, 2024)
11-73660759-G-A		not specified	Uncertain significance (Jun 22, 2023)
11-73660769-C-A		not specified	Uncertain significance (Jan 03, 2024)
11-73660780-T-C		not specified	Uncertain significance (Mar 27, 2023)
11-73660786-G-A		not specified	Uncertain significance (Oct 06, 2022)
11-73660802-A-G		not specified	Uncertain significance (Oct 25, 2024)
11-73660843-C-T		not specified	Uncertain significance (Mar 19, 2024)
11-73660847-A-G		not specified	Uncertain significance (Jun 11, 2024)
11-73660849-G-A		not specified	Uncertain significance (Aug 10, 2024)
11-73661474-G-A		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PLEKHB1	protein_coding	protein_coding	ENST00000354190	8	16642

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000221	0.922	124608	0	38	124646	0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.412	148	163	0.909	0.0000108	1536
Missense in Polyphen		78	81.38	0.95847		759
Synonymous	0.232	69	71.5	0.965	0.00000512	497
Loss of Function	1.59	8	14.5	0.550	7.06e-7	156

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000633	0.000618
Ashkenazi Jewish	0.00	0.00
East Asian	0.000168	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.0000973	0.0000885
Middle Eastern	0.000168	0.000167
South Asian	0.000131	0.0000980
Other	0.000333	0.000331

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.553
• rvis_EVS: -0.54
• rvis_percentile_EVS: 20.26

Haploinsufficiency Scores

• pHI: 0.208
• hipred: N
• hipred_score: 0.290
• ghis: 0.655

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.158

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Plekhb1
• Phenotype: normal phenotype

Gene ontology

• Biological process: multicellular organism development;phototransduction;regulation of cell differentiation
• Cellular component: cytoplasm;integral component of membrane
• Molecular function: protein binding