PCLAF

PCNA clamp associated factor

Basic information

Region (hg38): 15:64364304-64387687

Previous symbols: [ "KIAA0101" ]

Links

ENSG00000166803 ∙ NCBI:9768 ∙ OMIM:610696 ∙ HGNC:28961 ∙ Uniprot:Q15004 ∙ 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 PCLAF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCLAF 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in PCLAF

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

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

Position	Type	Phenotype	Significance	ClinVar
15-64376744-T-C		not specified	Uncertain significance (Mar 29, 2022)
15-64376809-T-A		not specified	Uncertain significance (Oct 08, 2024)
15-64376867-G-A		not specified	Uncertain significance (Aug 20, 2024)
15-64376870-C-T		not specified	Uncertain significance (Jan 21, 2025)
15-64376879-G-C		not specified	Uncertain significance (Oct 01, 2024)
15-64376879-G-T		not specified	Uncertain significance (Dec 21, 2022)
15-64376896-T-G		not specified	Uncertain significance (Dec 23, 2024)
15-64380988-T-C		not specified	Uncertain significance (Feb 22, 2023)
15-64381014-T-C		not specified	Uncertain significance (Sep 13, 2023)
15-64381020-G-A		not specified	Uncertain significance (Dec 13, 2023)
15-64381036-C-T		not specified	Uncertain significance (Jan 29, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PCLAF	protein_coding	protein_coding	ENST00000300035	4	22694

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.163	0.779	125742	0	5	125747	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.455	49	58.8	0.833	0.00000287	703
Missense in Polyphen		10	18.945	0.52786		217
Synonymous	1.32	14	21.8	0.642	0.00000111	223
Loss of Function	1.56	2	6.18	0.324	2.62e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000266	0.0000264
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork-blocking lesions. Also acts as a regulator of centrosome number. {ECO:0000269|PubMed:21673012, ECO:0000269|PubMed:23000965}.
• Pathway: DNA Repair;Termination of translesion DNA synthesis;Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template;DNA Damage Bypass (Consensus)

Recessive Scores

• pRec: 0.490

Intolerance Scores

• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.2

Haploinsufficiency Scores

• pHI: 0.765
• hipred: N
• hipred_score: 0.170
• ghis: 0.710

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Pclaf
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; vision/eye phenotype; immune system phenotype; skeleton phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: DNA replication;cellular response to DNA damage stimulus;centrosome cycle;response to UV;translesion synthesis;regulation of cell cycle
• Cellular component: nucleus;nucleoplasm;centrosome;perinuclear region of cytoplasm
• Molecular function: chromatin binding;protein binding