CEP170B

centrosomal protein 170B

Basic information

Region (hg38): 14:104865268-104896747

Previous symbols: [ "KIAA0284" ]

Links

ENSG00000099814 ∙ NCBI:283638 ∙ OMIM:620251 ∙ HGNC:20362 ∙ Uniprot:Q9Y4F5 ∙ 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 CEP170B gene.

• not_specified (323 variants)
• CEP170B-related_disorder (52 variants)
• not_provided (9 variants)
• Heart,_malformation_of (2 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP170B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001112726.3. 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				28	7	35
missense			308	24	8	340
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	309	52	15

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP170B	protein_coding	protein_coding	ENST00000414716	18	31491

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00329	124300	0	11	124311	0.0000442

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.878	933	1.01e+3	0.922	0.0000721	9851
Missense in Polyphen		241	308.81	0.78041		3032
Synonymous	-0.508	458	444	1.03	0.0000333	3325
Loss of Function	5.66	8	52.1	0.154	0.00000286	565

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000557
Finnish	0.000100	0.0000928
European (Non-Finnish)	0.0000638	0.0000622
Middle Eastern	0.0000557	0.0000557
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in microtubule organization. {ECO:0000250|UniProtKB:Q5SW79}.

Intolerance Scores

• rvis_EVS: -1.69
• rvis_percentile_EVS: 2.6

Haploinsufficiency Scores

• pHI: 0.173
• hipred: Y
• hipred_score: 0.544
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cep170b

Gene ontology

• Cellular component: cytoplasm;microtubule