FAM181B

family with sequence similarity 181 member B

Basic information

Region (hg38): 11:82729939-82733864

Links

ENSG00000182103 ∙ NCBI:220382 ∙ ∙ HGNC:28512 ∙ Uniprot:A6NEQ2 ∙ 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 FAM181B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM181B 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			35	2		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	2	0

Variants in FAM181B

This is a list of pathogenic ClinVar variants found in the FAM181B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-82732459-T-A		not specified	Uncertain significance (Jul 26, 2022)
11-82732493-C-T		not specified	Uncertain significance (Apr 27, 2022)
11-82732543-C-T		not specified	Uncertain significance (Apr 07, 2022)
11-82732583-G-A		not specified	Uncertain significance (May 08, 2024)
11-82732610-C-A		not specified	Likely benign (Dec 19, 2022)
11-82732624-T-G		not specified	Uncertain significance (Mar 25, 2024)
11-82732625-G-A		not specified	Uncertain significance (Dec 09, 2023)
11-82732637-C-T		not specified	Uncertain significance (Apr 04, 2024)
11-82732643-C-G		not specified	Uncertain significance (Dec 06, 2022)
11-82732754-C-T		not specified	Uncertain significance (Dec 05, 2022)
11-82732762-G-A		not specified	Uncertain significance (Jan 30, 2024)
11-82732777-A-T		not specified	Uncertain significance (Jun 24, 2022)
11-82732814-C-A		not specified	Uncertain significance (Nov 10, 2021)
11-82732865-C-T		not specified	Uncertain significance (Nov 08, 2022)
11-82732880-C-T		not specified	Uncertain significance (Jan 22, 2024)
11-82732886-G-C		not specified	Uncertain significance (Feb 06, 2023)
11-82732970-C-T		not specified	Uncertain significance (Jun 30, 2022)
11-82732975-A-G		not specified	Uncertain significance (Jun 18, 2021)
11-82733012-C-G		not specified	Uncertain significance (Dec 15, 2023)
11-82733053-T-C		not specified	Uncertain significance (Oct 12, 2021)
11-82733104-G-A		not specified	Uncertain significance (Jan 17, 2024)
11-82733143-G-A		not specified	Uncertain significance (Jun 13, 2024)
11-82733156-C-G		not specified	Uncertain significance (Feb 15, 2023)
11-82733159-C-A		not specified	Uncertain significance (Mar 27, 2023)
11-82733165-G-A		not specified	Uncertain significance (Apr 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM181B	protein_coding	protein_coding	ENST00000329203	1	1854

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0694	0.751	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0944	160	163	0.979	0.00000756	2563
Missense in Polyphen		41	49.008	0.8366		736
Synonymous	-1.28	93	78.6	1.18	0.00000394	967
Loss of Function	0.927	2	4.00	0.500	1.69e-7	80

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: 0.285
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0792

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam181b
• Phenotype: normal phenotype