FAM167B

family with sequence similarity 167 member B

Basic information

Region (hg38): 1:32247222-32248856

Previous symbols: [ "C1orf90" ]

Links

ENSG00000183615 ∙ NCBI:84734 ∙ ∙ HGNC:28133 ∙ Uniprot:Q9BTA0 ∙ 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 FAM167B gene.

• not_specified (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM167B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032648.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			20			20
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM167B	protein_coding	protein_coding	ENST00000373582	2	1624

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000774	0.552	125107	0	30	125137	0.000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.372	73	82.5	0.885	0.00000436	1004
Missense in Polyphen		29	31.011	0.93514		399
Synonymous	0.680	33	38.4	0.860	0.00000184	355
Loss of Function	0.389	5	6.03	0.829	3.25e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.000179	0.000165
Finnish	0.00	0.00
European (Non-Finnish)	0.000199	0.000185
Middle Eastern	0.000179	0.000165
South Asian	0.0000723	0.0000653
Other	0.000178	0.000164

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.447
• hipred: N
• hipred_score: 0.279
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.694

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam167b