FAM111B

FAM111 trypsin like peptidase B

Basic information

Region (hg38): 11:59107185-59127412

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 (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 (100 variants)
• Hereditary_sclerosing_poikiloderma_with_tendon_and_pulmonary_involvement (19 variants)
• not_provided (14 variants)
• FAM111B-related_disorder (8 variants)
• not_specified (4 variants)
• Pulmonary_fibrosis (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. These statistics are base on transcript: NM_000198947.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	1	5
missense	3	3	103	13	2	124
nonsense			1			1
start loss						0
frameshift		1	4		1	6
splice donor/acceptor (+/-2bp)						0
Total	3	4	108	17	4

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