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.

• not_specified (67 variants)

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. These statistics are base on transcript: NM_000152481.2. 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			58	10		68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	10	0

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