CCDC85C

coiled-coil domain containing 85C

Basic information

Region (hg38): 14:99500190-99604207

Links

ENSG00000205476 ∙ NCBI:317762 ∙ ∙ HGNC:35459 ∙ Uniprot:A6NKD9 ∙ 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 CCDC85C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC85C 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				2		2
missense			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			18	8	3	29
Total	0	0	46	11	3

Variants in CCDC85C

This is a list of pathogenic ClinVar variants found in the CCDC85C region.

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

Position	Type	Phenotype	Significance	ClinVar
14-99500805-A-G			Uncertain significance (Dec 20, 2022)
14-99500849-A-T		CCNK-related disorder	Benign (Sep 30, 2019)
14-99500873-TAAG-T			Benign (Dec 31, 2019)
14-99501368-A-G		not specified	Uncertain significance (Apr 07, 2023)
14-99502260-T-G		not specified	Uncertain significance (Mar 28, 2024)
14-99502367-G-A		Intellectual developmental disorder with hypertelorism and distinctive facies	Uncertain significance (Apr 21, 2022)
14-99502750-A-G		CCNK-related disorder	Likely benign (Mar 28, 2019)
14-99502830-C-T		not specified	Uncertain significance (Apr 07, 2022)
14-99502851-C-T		Intellectual developmental disorder with hypertelorism and distinctive facies	Uncertain significance (Jul 01, 2023)
14-99502923-C-G			Uncertain significance (Apr 24, 2024)
14-99502925-C-G		not specified	Uncertain significance (Dec 19, 2022)
14-99502929-A-G		not specified	Uncertain significance (Sep 25, 2023)
14-99502969-G-C		not specified	Uncertain significance (Jan 19, 2024)
14-99502970-G-T		not specified	Uncertain significance (Jun 17, 2024)
14-99503604-G-C			Likely benign (Jun 01, 2022)
14-99507102-A-G		not specified	Uncertain significance (Dec 09, 2023)
14-99510160-G-A		not specified	Uncertain significance (Aug 02, 2022)
14-99510210-G-A			Uncertain significance (Jun 23, 2022)
14-99510268-T-A		not specified	Uncertain significance (Jun 07, 2024)
14-99510281-G-A		CCNK-related disorder	Likely benign (Mar 27, 2024)
14-99510295-G-A		not specified	Uncertain significance (Aug 02, 2023)
14-99510304-C-T		not specified	Uncertain significance (Mar 14, 2023)
14-99510312-C-G		not specified	Uncertain significance (Mar 25, 2024)
14-99510398-C-T		CCNK-related disorder	Likely benign (Apr 26, 2019)
14-99510402-G-A		Intellectual developmental disorder with hypertelorism and distinctive facies	Uncertain significance (Jun 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC85C	protein_coding	protein_coding	ENST00000380243	6	92761

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.750	0.249	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.35	103	149	0.690	0.00000881	2615
Missense in Polyphen		29	47.142	0.61516		526
Synonymous	0.974	60	70.4	0.852	0.00000436	877
Loss of Function	2.87	2	13.3	0.150	7.63e-7	165

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: May play an important role in cortical development, especially in the maintenance of radial glia. {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.0676

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.263

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc85c
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: cerebral cortex development
• Cellular component: bicellular tight junction;apical junction complex