FAM174B

family with sequence similarity 174 member B

Basic information

Region (hg38): 15:92617448-92809884

Links

ENSG00000185442 ∙ NCBI:400451 ∙ ∙ HGNC:34339 ∙ Uniprot:Q3ZCQ3 ∙ 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 FAM174B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM174B 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			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	1	0

Variants in FAM174B

This is a list of pathogenic ClinVar variants found in the FAM174B region.

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

Position	Type	Phenotype	Significance	ClinVar
15-92630274-G-A		not specified	Uncertain significance (Oct 06, 2022)
15-92630320-G-A		not specified	Uncertain significance (Jan 29, 2024)
15-92655357-A-C		not specified	Uncertain significance (Apr 08, 2024)
15-92655458-A-C		not specified	Uncertain significance (Aug 09, 2021)
15-92655467-T-C		not specified	Likely benign (Aug 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM174B	protein_coding	protein_coding	ENST00000327355	3	192442

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00164	0.475	124568	0	79	124647	0.000317

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.852	89	69.1	1.29	0.00000353	965
Missense in Polyphen		35	26.151	1.3384		291
Synonymous	-0.664	36	31.3	1.15	0.00000158	362
Loss of Function	0.0116	4	4.03	0.994	2.55e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00194	0.00194
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000167
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000372	0.000372
Middle Eastern	0.000167	0.000167
South Asian	0.0000655	0.0000654
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.290
• ghis: 0.526

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.233

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam174b

Gene ontology

• Cellular component: integral component of membrane