FAM180B

family with sequence similarity 180 member B

Basic information

Region (hg38): 11:47586678-47589194

Links

ENSG00000196666NCBI:399888HGNC:34451Uniprot:Q6P0A1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM180B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM180B 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
12
clinvar
1
clinvar
13
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 12 1 0

Variants in FAM180B

This is a list of pathogenic ClinVar variants found in the FAM180B region.

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

Position Type Phenotype Significance ClinVar
11-47586776-C-T not specified Likely benign (Jun 03, 2022)2293737
11-47586779-C-A not specified Uncertain significance (Jan 20, 2025)3847467
11-47586799-C-G not specified Uncertain significance (Jan 27, 2025)3847468
11-47587754-A-G not specified Uncertain significance (Dec 17, 2023)3092078
11-47587802-C-A not specified Uncertain significance (Mar 17, 2023)2526059
11-47587805-C-T not specified Uncertain significance (Dec 09, 2023)3092075
11-47587815-G-A not specified Uncertain significance (Mar 15, 2024)3277278
11-47588120-C-T not specified Uncertain significance (Mar 03, 2022)2213858
11-47588213-C-T not specified Uncertain significance (Jul 05, 2023)2610073
11-47588273-C-T not specified Uncertain significance (May 02, 2024)3277279
11-47588274-G-T not specified Uncertain significance (May 28, 2024)3277276
11-47588282-G-A not specified Uncertain significance (Oct 25, 2023)3092076
11-47588304-G-A not specified Uncertain significance (Jan 03, 2024)3092077
11-47588327-G-A not specified Likely benign (Dec 24, 2024)3847466
11-47588366-G-A not specified Uncertain significance (Sep 27, 2021)2252528
11-47588408-G-T not specified Uncertain significance (Oct 04, 2022)2306670

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FAM180Bprotein_codingprotein_codingENST00000356737 32549
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0008790.80800000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.991941250.7510.000007421430
Missense in Polyphen1127.6550.39776363
Synonymous0.07105151.60.9870.00000307460
Loss of Function1.1269.760.6155.10e-789

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.123
ghis
0.461

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
S
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.231

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
Cellular component
integral component of membrane
Molecular function