CCDC102B

coiled-coil domain containing 102B

Basic information

Region (hg38): 18:68715209-69055189

Previous symbols: [ "C18orf14", "ACY1L" ]

Links

ENSG00000150636 ∙ NCBI:79839 ∙ ∙ HGNC:26295 ∙ Uniprot:Q68D86 ∙ 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 CCDC102B gene.

• not_specified (76 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC102B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024781.3. 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				2	1	3
missense			71	5	4	80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	7	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC102B	protein_coding	protein_coding	ENST00000360242	7	339981

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.22e-16	0.0191	125280	1	467	125748	0.00186

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.551	280	255	1.10	0.0000129	3384
Missense in Polyphen		67	56.09	1.1945		833
Synonymous	0.747	82	91.1	0.900	0.00000442	881
Loss of Function	0.354	25	27.0	0.927	0.00000146	331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00213	0.00209
Ashkenazi Jewish	0.00	0.00
East Asian	0.000935	0.000925
Finnish	0.00333	0.00329
European (Non-Finnish)	0.00284	0.00268
Middle Eastern	0.000935	0.000925
South Asian	0.000531	0.000523
Other	0.00214	0.00196

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0854

Intolerance Scores

• loftool: 0.958
• rvis_EVS: 1.82
• rvis_percentile_EVS: 97.02

Haploinsufficiency Scores

• pHI: 0.717
• hipred: N
• hipred_score: 0.123
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0584

Gene Damage Prediction

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

Gene ontology

• Molecular function: protein binding