FAM161B

protein-coding

FAM161 centrosomal protein B

Gene summary

Predicted to be involved in cilium organization. Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf44

MANE transcript

NM_152445.3

Inheritance

—

ClinVar variants

U:101B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr14:73,931,501-73,950,414

External References & Databases

Ensembl (ENSG00000156050)

Transcript & Mutation Effects

hg38 • Region Span ~18.9 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 FAM161B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 110

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152445.3. 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			1 clinvar			1
missense			98 clinvar	11 clinvar	1 clinvar	110
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	101	11	1	113

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152445.3	RefSeq	NP_689658.3	9	MANE Select
ENST00000286544.5	Ensembl	ENSP00000286544.4	9	MANE Select
ENST00000556794.5	Ensembl	ENSP00000450889.1	4	Standard
ENST00000651776.1	Ensembl	ENSP00000499021.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process
cilium organization

Molecular Function

protein binding

Cellular Component

cytoplasmic microtubule
microtubule cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000286544
Coding exons: 9
Length: 18914
Individuals with no LoFs: 125654
Homozygous LoFs: 0
Heterozygous LoFs: 93
Defined: 125747
p: 0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.614	434	399	1.09	0.0000224	4619
Missense (PolyPhen)		90	81.567	1.1034		1025
Synonymous	0.973	137	152	0.900	0.00000804	1422
Loss of Function	1.17	24	31.0	0.773	0.00000166	335

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00068	0.00068	rare
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0014	0.0014	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00032	0.00032	rare
South Asian	0.00036	0.00036	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0823

Intolerance Scores

LoFtool: 0.949
RVIS EVS: 0.54
RVIS percentile EVS: 81.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.174

Gene Damage Prediction

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