POC5

POC5 centriolar protein

Basic information

Region (hg38): 5:75674124-75717448

Previous symbols: [ "C5orf37" ]

Links

ENSG00000152359 ∙ NCBI:134359 ∙ OMIM:617880 ∙ HGNC:26658 ∙ Uniprot:Q8NA72 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• retinitis pigmentosa (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POC5 gene.

• not_provided (308 variants)
• not_specified (79 variants)
• Retinal_dystrophy (5 variants)
• POC5-related_disorder (2 variants)
• Syndromic_retinitis_pigmentosa (1 variants)
• Scoliosis (1 variants)
• Optic_atrophy (1 variants)
• Retinitis_pigmentosa (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POC5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001099271.2. 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	72	5	79
missense			197	8	5	210
nonsense			5			5
start loss						0
frameshift		1	5			6
splice donor/acceptor (+/-2bp)						0
Total	0	1	209	80	10

Highest pathogenic variant AF is 7.33373e-7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POC5	protein_coding	protein_coding	ENST00000428202	11	43365

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-7	0.945	124612	0	25	124637	0.000100

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.390	261	279	0.934	0.0000137	3695
Missense in Polyphen		133	143	0.93004		1972
Synonymous	0.0336	96	96.4	0.996	0.00000530	1102
Loss of Function	1.89	15	25.3	0.594	0.00000129	349

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000289	0.000283
Ashkenazi Jewish	0.000200	0.000199
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000924	0.0000885
Middle Eastern	0.0000556	0.0000556
South Asian	0.000182	0.000163
Other	0.000168	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential for the assembly of the distal half of centrioles, required for centriole elongation. {ECO:0000269|PubMed:19349582}.

Recessive Scores

• pRec: 0.0741

Intolerance Scores

• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.42

Haploinsufficiency Scores

• pHI: 0.0428
• hipred: N
• hipred_score: 0.172
• ghis: 0.454

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Poc5

Zebrafish Information Network

• Gene name: poc5
• Affected structure: eye photoreceptor cell
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: cell cycle
• Cellular component: nucleus;nucleoplasm;centrosome;centriole;cytosol
• Molecular function: protein binding