CEP170B

centrosomal protein 170B

Basic information

Region (hg38): 14:104865267-104896747

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.

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.

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				25	17	42
missense			140	15	9	164
nonsense						0
start loss						0
frameshift			1			1
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region				4	2	6
non coding						0
Total	0	0	141	40	27

Variants in CEP170B

This is a list of pathogenic ClinVar variants found in the CEP170B region.

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

Position	Type	Phenotype	Significance	ClinVar
14-104868461-C-T		not specified	Uncertain significance (May 18, 2022)
14-104868490-G-C		not specified	Uncertain significance (Jun 02, 2024)
14-104876325-G-A		not specified	Uncertain significance (Feb 28, 2023)
14-104877887-G-A		CEP170B-related disorder	Likely benign (May 01, 2022)
14-104877900-A-G		not specified	Likely benign (Feb 01, 2023)
14-104877923-C-T		CEP170B-related disorder	Likely benign (May 09, 2019)
14-104877939-A-G		not specified	Uncertain significance (Nov 22, 2023)
14-104877956-C-T		CEP170B-related disorder	Benign (Oct 17, 2019)
14-104877962-C-T			Likely benign (Jul 01, 2022)
14-104878467-G-A		not specified	Uncertain significance (Jun 17, 2024)
14-104878486-G-A		CEP170B-related disorder	Benign (Feb 27, 2020)
14-104880295-G-A		CEP170B-related disorder	Benign (Feb 27, 2020)
14-104880320-G-A		not specified	Uncertain significance (Oct 12, 2021)
14-104880334-G-A		CEP170B-related disorder	Likely benign (Mar 12, 2019)
14-104880392-A-C		CEP170B-related disorder	Benign/Likely benign (Feb 21, 2019)
14-104880396-C-T		not specified	Uncertain significance (Jun 22, 2021)
14-104882781-G-A		not specified	Uncertain significance (Jun 11, 2021)
14-104883038-G-A		not specified	Uncertain significance (Sep 26, 2023)
14-104883051-A-C		CEP170B-related disorder	Benign (Oct 17, 2019)
14-104883083-G-A		not specified	Uncertain significance (Jun 02, 2024)
14-104883085-G-A		not specified	Uncertain significance (Sep 16, 2021)
14-104883086-C-T		not specified	Uncertain significance (Feb 06, 2024)
14-104883088-C-A		not specified	Uncertain significance (Nov 03, 2022)
14-104883097-C-A		not specified	Uncertain significance (Aug 20, 2023)
14-104883101-A-G		not specified	Uncertain significance (Jun 06, 2023)

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