FAM161B

FAM161 centrosomal protein B

Basic information

Region (hg38): 14:73931500-73950414

Previous symbols: [ "C14orf44" ]

Links

ENSG00000156050 ∙ NCBI:145483 ∙ ∙ HGNC:19854 ∙ Uniprot:Q96MY7 ∙ 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 FAM161B gene.

• Inborn genetic diseases (41 variants)
• not provided (20 variants)
• not specified (5 variants)
• Familial steroid-resistant nephrotic syndrome with sensorineural deafness (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM161B 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			31	8	3	42
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			8	8	8	24
Total	0	0	40	16	11

Variants in FAM161B

This is a list of pathogenic ClinVar variants found in the FAM161B region.

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

Position	Type	Phenotype	Significance	ClinVar
14-73934270-C-G		not specified	Likely benign (Jul 28, 2021)
14-73934287-T-G		not specified	Uncertain significance (Aug 20, 2023)
14-73934333-C-T		not specified	Uncertain significance (Aug 04, 2023)
14-73934380-G-A		not specified	Uncertain significance (May 17, 2023)
14-73934394-C-A		not specified	Likely benign (Jun 07, 2023)
14-73935952-G-C		not specified	Uncertain significance (Aug 02, 2021)
14-73937625-A-T		not specified	Uncertain significance (Dec 28, 2022)
14-73937645-T-G		not specified	Uncertain significance (Dec 03, 2021)
14-73937672-T-C		not specified	Uncertain significance (May 25, 2022)
14-73937681-G-A		not specified	Uncertain significance (Apr 14, 2022)
14-73937949-G-A		not specified	Uncertain significance (Nov 09, 2021)
14-73938003-T-C		not specified	Uncertain significance (Jan 16, 2024)
14-73938077-C-T		not specified	Uncertain significance (Sep 13, 2023)
14-73940965-T-G		not specified	Uncertain significance (Apr 20, 2023)
14-73941013-C-T		not specified	Uncertain significance (Feb 12, 2024)
14-73942425-C-T		not specified	Uncertain significance (Jul 06, 2021)
14-73942451-C-A		not specified	Uncertain significance (Jan 26, 2022)
14-73942451-C-T		not specified	Uncertain significance (May 25, 2022)
14-73942481-G-A		not specified	Uncertain significance (Jan 23, 2024)
14-73942541-C-T		not specified	Uncertain significance (Jul 27, 2021)
14-73942542-G-A		not specified	Uncertain significance (Sep 14, 2021)
14-73942608-G-A		not specified	Uncertain significance (Mar 28, 2023)
14-73942638-A-C		not specified	Uncertain significance (Jun 24, 2022)
14-73944422-T-C		not specified	Uncertain significance (Apr 18, 2023)
14-73944473-C-T		not specified	Uncertain significance (Aug 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM161B	protein_coding	protein_coding	ENST00000286544	9	18914

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.08e-13	0.270	125654	0	93	125747	0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.614	434	399	1.09	0.0000224	4619
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000937	0.000937
Ashkenazi Jewish	0.00	0.00
East Asian	0.00142	0.00136
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000318	0.000316
Middle Eastern	0.00142	0.00136
South Asian	0.000362	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0823

Intolerance Scores

• loftool: 0.949
• rvis_EVS: 0.54
• rvis_percentile_EVS: 81.07

Haploinsufficiency Scores

• pHI: 0.0951
• hipred: N
• hipred_score: 0.123
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.174

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam161b

Gene ontology

• Biological process: biological_process;cilium organization
• Cellular component: cytoplasmic microtubule;microtubule cytoskeleton
• Molecular function: protein binding