PPP1R14B

protein phosphatase 1 regulatory inhibitor subunit 14B, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 11:64244479-64246943

Previous symbols: [ "PLCB3N" ]

Links

ENSG00000173457 ∙ NCBI:26472 ∙ OMIM:601140 ∙ HGNC:9057 ∙ Uniprot:Q96C90 ∙ 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 PPP1R14B gene.

• not_specified (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R14B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138689.3. 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						0
missense			16			16
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	16	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R14B	protein_coding	protein_coding	ENST00000309318	4	2458

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00438	0.685	125469	0	54	125523	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.717	58	75.5	0.768	0.00000370	930
Missense in Polyphen		9	24.125	0.37305		341
Synonymous	-0.147	34	32.9	1.03	0.00000165	307
Loss of Function	0.652	4	5.68	0.705	2.41e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000612	0.000608
Ashkenazi Jewish	0.000399	0.000298
East Asian	0.000181	0.000163
Finnish	0.000301	0.000277
European (Non-Finnish)	0.000174	0.000159
Middle Eastern	0.000181	0.000163
South Asian	0.000300	0.000261
Other	0.000199	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitor of PPP1CA. Has over 50-fold higher inhibitory activity when phosphorylated (By similarity). {ECO:0000250}.
• Pathway: EGFR1;Integrin-linked kinase signaling (Consensus)

Recessive Scores

• pRec: 0.221

Intolerance Scores

• loftool: 0.370
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.395
• hipred: N
• hipred_score: 0.312
• ghis: 0.663

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.341

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppp1r14b

Gene ontology

• Biological process: negative regulation of phosphoprotein phosphatase activity;regulation of phosphorylation;innate immune response
• Cellular component: cytoplasm
• Molecular function: protein serine/threonine phosphatase inhibitor activity