FAM187B

family with sequence similarity 187 member B

Basic information

Region (hg38): 19:35224800-35228739

Previous symbols: [ "TMEM162" ]

Links

ENSG00000177558 ∙ NCBI:148109 ∙ ∙ HGNC:26366 ∙ Uniprot:Q17R55 ∙ 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 FAM187B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM187B 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			43	7		50
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	7	0

Variants in FAM187B

This is a list of pathogenic ClinVar variants found in the FAM187B region.

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

Position	Type	Phenotype	Significance	ClinVar
19-35224833-C-T		not specified	Uncertain significance (Dec 02, 2024)
19-35224865-G-A		not specified	Uncertain significance (Sep 25, 2023)
19-35224952-T-A		not specified	Uncertain significance (Aug 10, 2021)
19-35224964-C-T		not specified	Uncertain significance (Oct 05, 2022)
19-35225012-T-C		not specified	Uncertain significance (Jun 22, 2023)
19-35225024-G-A		not specified	Uncertain significance (Dec 06, 2021)
19-35225025-T-G		not specified	Uncertain significance (Jan 23, 2024)
19-35225044-T-G		not specified	Likely benign (Apr 10, 2023)
19-35225061-G-A		not specified	Uncertain significance (Apr 13, 2022)
19-35225064-C-T		not specified	Uncertain significance (Mar 10, 2025)
19-35225080-C-G		not specified	Uncertain significance (May 24, 2023)
19-35225081-T-C		not specified	Likely benign (Sep 17, 2021)
19-35225082-T-C		not specified	Uncertain significance (Jan 02, 2024)
19-35225093-G-A		not specified	Uncertain significance (Mar 12, 2024)
19-35225095-C-G		not specified	Uncertain significance (Oct 03, 2022)
19-35225123-G-A		not specified	Uncertain significance (Jan 03, 2025)
19-35225126-G-C		not specified	Uncertain significance (Oct 20, 2024)
19-35225180-A-T		not specified	Uncertain significance (Oct 07, 2024)
19-35225183-G-T		not specified	Uncertain significance (Aug 28, 2024)
19-35225186-G-T		not specified	Uncertain significance (Jun 28, 2022)
19-35225191-G-T		not specified	Uncertain significance (Dec 25, 2024)
19-35225196-C-T		not specified	Uncertain significance (Oct 20, 2024)
19-35225198-C-T		not specified	Likely benign (Jul 14, 2023)
19-35225208-C-T		not specified	Likely benign (Sep 30, 2024)
19-35227984-C-T		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM187B	protein_coding	protein_coding	ENST00000324675	2	3930

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.51e-9	0.0433	56097	14847	54803	125747	0.332

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.614	186	211	0.881	0.0000123	2378
Missense in Polyphen		48	60.949	0.78754		773
Synonymous	0.799	90	100	0.898	0.00000648	742
Loss of Function	-0.615	12	9.91	1.21	4.27e-7	106

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.646	0.644
Ashkenazi Jewish	0.329	0.327
East Asian	0.177	0.176
Finnish	0.337	0.335
European (Non-Finnish)	0.331	0.330
Middle Eastern	0.177	0.176
South Asian	0.469	0.467
Other	0.339	0.336

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.842
• rvis_EVS: 1.46
• rvis_percentile_EVS: 95.23

Haploinsufficiency Scores

• pHI: 0.0386
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0148

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam187b

Gene ontology

• Cellular component: integral component of membrane