FAM180B

family with sequence similarity 180 member B

Basic information

Region (hg38): 11:47586678-47589194

Links

ENSG00000196666 ∙ NCBI:399888 ∙ ∙ HGNC:34451 ∙ Uniprot:Q6P0A1 ∙ 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 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	1		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)
11-47586779-C-A		not specified	Uncertain significance (Jan 20, 2025)
11-47586799-C-G		not specified	Uncertain significance (Jan 27, 2025)
11-47587754-A-G		not specified	Uncertain significance (Dec 17, 2023)
11-47587802-C-A		not specified	Uncertain significance (Mar 17, 2023)
11-47587805-C-T		not specified	Uncertain significance (Dec 09, 2023)
11-47587815-G-A		not specified	Uncertain significance (Mar 15, 2024)
11-47588120-C-T		not specified	Uncertain significance (Mar 03, 2022)
11-47588213-C-T		not specified	Uncertain significance (Jul 05, 2023)
11-47588273-C-T		not specified	Uncertain significance (May 02, 2024)
11-47588274-G-T		not specified	Uncertain significance (May 28, 2024)
11-47588282-G-A		not specified	Uncertain significance (Oct 25, 2023)
11-47588304-G-A		not specified	Uncertain significance (Jan 03, 2024)
11-47588327-G-A		not specified	Likely benign (Dec 24, 2024)
11-47588366-G-A		not specified	Uncertain significance (Sep 27, 2021)
11-47588408-G-T		not specified	Uncertain significance (Oct 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM180B	protein_coding	protein_coding	ENST00000356737	3	2549

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000879	0.808	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.991	94	125	0.751	0.00000742	1430
Missense in Polyphen		11	27.655	0.39776		363
Synonymous	0.0710	51	51.6	0.987	0.00000307	460
Loss of Function	1.12	6	9.76	0.615	5.10e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.461

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Gene ontology

• Cellular component: integral component of membrane