FAM163B

family with sequence similarity 163 member B

Basic information

Region (hg38): 9:133577081-133609389

Previous symbols: [ "C9orf166" ]

Links

ENSG00000196990 ∙ NCBI:642968 ∙ ∙ HGNC:33277 ∙ Uniprot:P0C2L3 ∙ 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 FAM163B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM163B 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in FAM163B

This is a list of pathogenic ClinVar variants found in the FAM163B region.

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

Position	Type	Phenotype	Significance	ClinVar
9-133579044-C-T		not specified	Uncertain significance (Nov 08, 2024)
9-133579068-A-C		not specified	Uncertain significance (Dec 27, 2023)
9-133579081-G-A		not specified	Uncertain significance (May 21, 2024)
9-133579096-C-T		not specified	Uncertain significance (Mar 24, 2023)
9-133579117-C-T		not specified	Uncertain significance (Nov 09, 2024)
9-133579119-G-A		not specified	Uncertain significance (Jun 29, 2023)
9-133579132-C-T		not specified	Uncertain significance (Mar 02, 2023)
9-133579136-C-G		not specified	Uncertain significance (Dec 12, 2022)
9-133579148-G-T		not specified	Uncertain significance (Feb 17, 2022)
9-133579155-T-C		not specified	Uncertain significance (Sep 06, 2022)
9-133579162-C-T		not specified	Uncertain significance (Aug 01, 2024)
9-133579179-A-G		not specified	Uncertain significance (Jul 26, 2021)
9-133579182-A-G		not specified	Uncertain significance (Apr 26, 2023)
9-133579200-G-A		not specified	Uncertain significance (Nov 17, 2022)
9-133579204-G-A		not specified	Uncertain significance (Nov 13, 2023)
9-133579232-G-C		not specified	Uncertain significance (Mar 29, 2023)
9-133579246-T-A		not specified	Uncertain significance (Aug 10, 2023)
9-133579248-C-T		not specified	Uncertain significance (Nov 08, 2024)
9-133579260-C-T		not specified	Uncertain significance (Sep 26, 2024)
9-133579263-G-A		not specified	Uncertain significance (Sep 20, 2023)
9-133579266-T-C		not specified	Uncertain significance (Jul 27, 2024)
9-133579299-G-A		not specified	Uncertain significance (Dec 08, 2023)
9-133579311-G-A		not specified	Uncertain significance (Jan 24, 2023)
9-133579318-C-T		not specified	Uncertain significance (Apr 17, 2023)
9-133579326-A-G		not specified	Uncertain significance (Aug 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM163B	protein_coding	protein_coding	ENST00000496132	2	7241

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0259	0.581	105905	0	2	105907	0.00000944

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.760	84	66.6	1.26	0.00000478	1057
Missense in Polyphen		19	18.307	1.0378		335
Synonymous	-0.853	38	31.9	1.19	0.00000250	342
Loss of Function	0.0383	2	2.06	0.971	8.78e-8	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000607	0.0000607
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.227
• ghis: 0.610

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam163b

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding