CCDC85B

coiled-coil domain containing 85B

Basic information

Region (hg38): 11:65890673-65891635

Links

ENSG00000175602 ∙ NCBI:11007 ∙ OMIM:605360 ∙ HGNC:24926 ∙ Uniprot:Q15834 ∙ 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 CCDC85B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC85B 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in CCDC85B

This is a list of pathogenic ClinVar variants found in the CCDC85B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65890852-G-C		not specified	Uncertain significance (Nov 08, 2022)
11-65890965-G-T		not specified	Uncertain significance (Sep 22, 2022)
11-65890969-G-C		not specified	Uncertain significance (Apr 11, 2023)
11-65890979-C-T		not specified	Uncertain significance (Jul 12, 2023)
11-65890983-A-G		not specified	Uncertain significance (Apr 18, 2023)
11-65891103-G-A		not specified	Uncertain significance (Jan 07, 2025)
11-65891211-C-T		not specified	Uncertain significance (Jul 19, 2023)
11-65891237-G-A		not specified	Uncertain significance (May 05, 2023)
11-65891297-C-G		not specified	Uncertain significance (Jun 29, 2022)
11-65891298-C-T		not specified	Uncertain significance (Nov 05, 2021)
11-65891361-A-T		not specified	Uncertain significance (Oct 26, 2022)
11-65891375-T-C		not specified	Uncertain significance (Nov 23, 2024)
11-65891379-C-T		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC85B	protein_coding	protein_coding	ENST00000312579	1	1231

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.313	0.622	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	47	88.7	0.530	0.00000417	1231
Missense in Polyphen		19	38.608	0.49213		557
Synonymous	1.85	27	42.3	0.639	0.00000200	448
Loss of Function	1.43	1	4.13	0.242	1.80e-7	56

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a transcriptional repressor (PubMed:17014843). May inhibit the activity of CTNNB1 in a TP53- dependent manner and thus regulate cell growth (PubMed:17873903). May function in adipocyte differentiation, negatively regulating mitotic clonal expansion (By similarity). {ECO:0000250|UniProtKB:Q6PDY0, ECO:0000269|PubMed:17014843, ECO:0000269|PubMed:17873903}.

Recessive Scores

• pRec: 0.135

Haploinsufficiency Scores

• pHI: 0.201
• hipred: N
• hipred_score: 0.468
• ghis: 0.657

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.926

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc85b

Zebrafish Information Network

• Gene name: ccdc85b
• Affected structure: cell
• Phenotype tag: abnormal
• Phenotype quality: accumulation

Gene ontology

• Biological process: cell differentiation;negative regulation of cell growth;negative regulation of fat cell differentiation;negative regulation of transcription, DNA-templated
• Cellular component: nucleus;cytoplasm;centrosome
• Molecular function: protein binding