FAM111B

FAM111 trypsin like peptidase B

Basic information

Region (hg38): 11:59107184-59127412

Links

ENSG00000189057 ∙ NCBI:374393 ∙ OMIM:615584 ∙ HGNC:24200 ∙ Uniprot:Q6SJ93 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hereditary sclerosing poikiloderma with tendon and pulmonary involvement (Supportive), mode of inheritance: AD
• hereditary sclerosing poikiloderma with tendon and pulmonary involvement (Moderate), mode of inheritance: AD
• hereditary sclerosing poikiloderma with tendon and pulmonary involvement (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic; Musculoskeletal; Pulmonary	24268661

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM111B gene.

• Inborn genetic diseases (30 variants)
• Hereditary sclerosing poikiloderma with tendon and pulmonary involvement (11 variants)
• not provided (7 variants)
• not specified (3 variants)
• FAM111B-related condition (1 variants)
• Myositis disease;Short stature;Kyphosis;Ectopic ossification (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM111B 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				1		1
missense	1	3	33	3		40
nonsense						0
start loss						0
frameshift		1	3			4
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	4	36	4	0

Variants in FAM111B

This is a list of pathogenic ClinVar variants found in the FAM111B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-59109665-G-T			Uncertain significance (May 17, 2022)
11-59109666-C-T		Inborn genetic diseases	Uncertain significance (Apr 07, 2022)
11-59109670-G-A		Inborn genetic diseases	Uncertain significance (Sep 14, 2022)
11-59109673-A-G			Likely benign (Feb 01, 2023)
11-59109679-C-A		Inborn genetic diseases	Uncertain significance (Dec 03, 2021)
11-59109692-C-A		Inborn genetic diseases	Uncertain significance (Aug 22, 2023)
11-59124180-A-G		Inborn genetic diseases	Uncertain significance (Jan 09, 2024)
11-59124196-GAC-G		not specified	Uncertain significance (Oct 28, 2021)
11-59124261-A-C		Inborn genetic diseases	Uncertain significance (Sep 28, 2022)
11-59124290-A-G		Inborn genetic diseases	Uncertain significance (Jul 25, 2023)
11-59124352-G-C		Inborn genetic diseases	Uncertain significance (Jun 18, 2021)
11-59124357-G-A		Inborn genetic diseases	Likely benign (Jun 02, 2023)
11-59124377-C-G		Inborn genetic diseases	Uncertain significance (Jun 06, 2023)
11-59124377-C-T		FAM111B-related disorder	Benign (Jul 10, 2019)
11-59124393-C-T		Inborn genetic diseases	Uncertain significance (Dec 28, 2023)
11-59124423-C-T		Inborn genetic diseases	Uncertain significance (Mar 04, 2024)
11-59124453-A-G		Inborn genetic diseases	Uncertain significance (Jun 01, 2023)
11-59124465-A-ACT		Hereditary sclerosing poikiloderma with tendon and pulmonary involvement • not specified	Uncertain significance (May 04, 2022)
11-59124515-C-T		Inborn genetic diseases	Likely benign (Dec 21, 2023)
11-59124663-T-C		Inborn genetic diseases	Uncertain significance (Jul 06, 2021)
11-59124768-C-G		Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Uncertain significance (Oct 31, 2019)
11-59124815-T-A		Inborn genetic diseases	Uncertain significance (Sep 23, 2023)
11-59124903-C-CA		FAM111B-related disorder	Benign (Sep 11, 2019)
11-59124982-C-A		Inborn genetic diseases	Uncertain significance (Nov 09, 2021)
11-59125022-A-G		Inborn genetic diseases	Likely benign (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM111B	protein_coding	protein_coding	ENST00000343597	2	20226

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0985	0.596	114646	0	19	114665	0.0000829

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.234	402	389	1.03	0.0000197	4926
Missense in Polyphen		68	68.609	0.99113		865
Synonymous	0.596	128	137	0.935	0.00000731	1296
Loss of Function	0.127	1	1.15	0.872	4.81e-8	16

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00108	0.00108
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00108	0.00108
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.544
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.14

Haploinsufficiency Scores

• pHI: 0.0654
• hipred: N
• hipred_score: 0.112
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0259

Gene Damage Prediction

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

Gene ontology

• Molecular function: protein binding