CCDC175

Gene

coiled-coil domain containing 175

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C14orf38

MANE transcript

NM_001164399.2

Inheritance

—

ClinVar variants

U:92B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr14:59,504,539-59,576,812

External References & Databases

Ensembl (ENSG00000151838)

Transcript & Mutation Effects

hg38 • Region Span ~72.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC175 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 95

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001164399.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			90 clinvar	7 clinvar		97
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	92	7	0	99

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001164399.2	RefSeq	NP_001157871.1	20	MANE Select
ENST00000537690.7	Ensembl	ENSP00000453940.1	20	MANE Select
ENST00000281581.5	Ensembl	ENSP00000452964.1	20	Standard
ENST00001099833.1	Ensembl	ENSP00000769639.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000537690
Coding exons: 20
Length: 72293
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.13	250	306	0.817	0.0000150	5213
Missense (PolyPhen)		59	75.354	0.78297		1474
Synonymous	0.693	96	105	0.914	0.00000508	1336
Loss of Function	2.77	20	38.6	0.518	0.00000208	618

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 2.13
RVIS percentile EVS: 97.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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