CFAP144

cilia and flagella associated protein 144

Basic information

Region (hg38): 1:43145152-43156396

Previous symbols: [ "FAM183A" ]

Links

ENSG00000186973 ∙ NCBI:440585 ∙ ∙ HGNC:34347 ∙ Uniprot:A6NL82 ∙ 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 CFAP144 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP144 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						0
missense			5	1		6
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	1

Variants in CFAP144

This is a list of pathogenic ClinVar variants found in the CFAP144 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-43150793-C-T		not specified	Uncertain significance (Dec 22, 2023)
1-43150797-A-G		not specified	Uncertain significance (Jan 04, 2024)
1-43150817-G-A		not specified	Uncertain significance (Oct 02, 2023)
1-43152835-T-G		not specified	Uncertain significance (Dec 27, 2022)
1-43156206-A-G		not specified	Conflicting classifications of pathogenicity (Aug 18, 2022)
1-43156218-C-T		not specified	Uncertain significance (Aug 21, 2023)
1-43156263-ACT-A			Benign (Dec 31, 2019)
1-43156285-G-A			Uncertain significance (Oct 25, 2021)
1-43156287-G-A		not specified	Likely benign (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP144	protein_coding	protein_coding	ENST00000335282	4	11244

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0416	0.855	124586	0	45	124631	0.000181

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0504	72	73.2	0.983	0.00000358	882
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000942	0.0000942
Ashkenazi Jewish	0.00	0.00
East Asian	0.00225	0.00217
Finnish	0.00	0.00
European (Non-Finnish)	0.00000919	0.00000885
Middle Eastern	0.00225	0.00217
South Asian	0.0000985	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.660
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.06

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.187

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam183b

Gene ontology

• Cellular component: ciliary base