CFAP144

protein-coding

cilia and flagella associated protein 144

Gene summary

Enables microtubule binding activity. Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

FAM183A

MANE transcript

NM_001101376.3

Inheritance

—

ClinVar variants

U:14B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.45

Max pathogenic AF

—

Genomic locus

chr1:43,145,153-43,156,396

External References & Databases

Ensembl (ENSG00000186973)

Transcript & Mutation Effects

hg38 • Region Span ~11.2 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 CFAP144 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 15

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001101376.3. 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			12 clinvar	3 clinvar		15
nonsense			1 clinvar			1
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	14	3	1	18

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001101376.3	RefSeq	NP_001094846.2	4	MANE Select
ENST00000335282.5	Ensembl	ENSP00000334415.3	4	MANE Select
ENST00000409396.5	Ensembl	ENSP00000387254.1	4	Standard
ENST00000410025.5	Ensembl	ENSP00000387018.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

ciliary base

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000335282
Coding exons: 4
Length: 11244
Individuals with no LoFs: 124586
Homozygous LoFs: 0
Heterozygous LoFs: 45
Defined: 124631
p: 0.000181

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0504	72	73.2	0.983	0.00000358	882
Missense (PolyPhen)		15	16.37	0.91634		233
Synonymous	0.744	22	26.9	0.818	0.00000128	236
Loss of Function	1.32	3	6.70	0.448	2.93e-7	76

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0022	0.0022	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000092	0.0000088	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.660
RVIS EVS: 0.26
RVIS percentile EVS: 70.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.187

Gene Damage Prediction

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