FAM187B

family with sequence similarity 187 member B

Basic information

Region (hg38): 19:35224800-35228739

Previous symbols: [ "TMEM162" ]

Links

ENSG00000177558NCBI:148109HGNC:26366Uniprot:Q17R55AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
7
clinvar
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)3512022
19-35224865-G-A not specified Uncertain significance (Sep 25, 2023)3092191
19-35224952-T-A not specified Uncertain significance (Aug 10, 2021)2359692
19-35224964-C-T not specified Uncertain significance (Oct 05, 2022)2317143
19-35225012-T-C not specified Uncertain significance (Jun 22, 2023)2605594
19-35225024-G-A not specified Uncertain significance (Dec 06, 2021)2368309
19-35225025-T-G not specified Uncertain significance (Jan 23, 2024)3092201
19-35225044-T-G not specified Likely benign (Apr 10, 2023)2535654
19-35225061-G-A not specified Uncertain significance (Apr 13, 2022)2283647
19-35225064-C-T not specified Uncertain significance (Mar 10, 2025)3847547
19-35225080-C-G not specified Uncertain significance (May 24, 2023)2507542
19-35225081-T-C not specified Likely benign (Sep 17, 2021)2251256
19-35225082-T-C not specified Uncertain significance (Jan 02, 2024)3092200
19-35225093-G-A not specified Uncertain significance (Mar 12, 2024)3092199
19-35225095-C-G not specified Uncertain significance (Oct 03, 2022)2315291
19-35225123-G-A not specified Uncertain significance (Jan 03, 2025)3847546
19-35225126-G-C not specified Uncertain significance (Oct 20, 2024)3512031
19-35225180-A-T not specified Uncertain significance (Oct 07, 2024)3512023
19-35225183-G-T not specified Uncertain significance (Aug 28, 2024)3512029
19-35225186-G-T not specified Uncertain significance (Jun 28, 2022)2214925
19-35225191-G-T not specified Uncertain significance (Dec 25, 2024)3847543
19-35225196-C-T not specified Uncertain significance (Oct 20, 2024)3512030
19-35225198-C-T not specified Likely benign (Jul 14, 2023)2611738
19-35225208-C-T not specified Likely benign (Sep 30, 2024)3512020
19-35227984-C-T not specified Uncertain significance (Feb 05, 2024)3092198

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FAM187Bprotein_codingprotein_codingENST00000324675 23930
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.51e-90.04335609714847548031257470.332
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6141862110.8810.00001232378
Missense in Polyphen4860.9490.78754773
Synonymous0.799901000.8980.00000648742
Loss of Function-0.615129.911.214.27e-7106

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.6460.644
Ashkenazi Jewish0.3290.327
East Asian0.1770.176
Finnish0.3370.335
European (Non-Finnish)0.3310.330
Middle Eastern0.1770.176
South Asian0.4690.467
Other0.3390.336

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
ghis

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

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Fam187b
Phenotype

Gene ontology

Biological process
Cellular component
integral component of membrane
Molecular function