CCDC137

coiled-coil domain containing 137

Basic information

Region (hg38): 17:81666737-81673904

Links

ENSG00000185298 ∙ NCBI:339230 ∙ OMIM:614271 ∙ HGNC:33451 ∙ Uniprot:Q6PK04 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Schizophrenia	AD	General	Evidence or clinical applicability unclear	Neurologic	21743468

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC137 gene.

• not_specified (51 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC137 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000199287.3. 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			47	7		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	50	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC137	protein_coding	protein_coding	ENST00000329214	6	7541

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.91e-7	0.448	124726	0	44	124770	0.000176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.584	184	163	1.13	0.0000102	1828
Missense in Polyphen		49	55.514	0.88266		632
Synonymous	-0.152	68	66.4	1.02	0.00000408	553
Loss of Function	0.711	11	13.9	0.794	9.41e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000257	0.000252
Ashkenazi Jewish	0.000203	0.000199
East Asian	0.000389	0.000389
Finnish	0.0000465	0.0000464
European (Non-Finnish)	0.000199	0.000194
Middle Eastern	0.000389	0.000389
South Asian	0.000229	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0904

Intolerance Scores

• loftool: 0.407
• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.58

Haploinsufficiency Scores

• pHI: 0.0402
• hipred: N
• hipred_score: 0.146
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.900

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc137

Gene ontology

• Cellular component: fibrillar center;chromosome;nucleolus
• Molecular function: RNA binding;protein binding