FEM1B

fem-1 homolog B, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 15:68277745-68295862

Links

ENSG00000169018 ∙ NCBI:10116 ∙ OMIM:613539 ∙ HGNC:3649 ∙ Uniprot:Q9UK73 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Moderate), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FEM1B gene.

• not_specified (34 variants)
• not_provided (7 variants)
• NEURODEVELOPMENTAL_DISORDER_WITH_BEHAVIORAL,_EAR,_AND_SKELETAL_ABNORMALITIES (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FEM1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015322.5. 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					1	1
missense	1		39	1		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	39	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FEM1B	protein_coding	protein_coding	ENST00000306917	2	18063

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.349	0.651	125744	0	4	125748	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.62	160	351	0.456	0.0000184	4145
Missense in Polyphen		32	130.2	0.24578		1512
Synonymous	-0.409	139	133	1.05	0.00000694	1244
Loss of Function	2.99	4	17.5	0.228	9.81e-7	226

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00000881	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit. Involved in apoptosis by acting as a death receptor-associated protein that mediates apoptosis. Also involved in glucose homeostasis in pancreatic islet. Functions as an adapter/mediator in replication stress-induced signaling that leads to the activation of CHEK1. {ECO:0000269|PubMed:10542291, ECO:0000269|PubMed:19330022}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Neddylation (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• pHI: 0.252
• hipred: Y
• hipred_score: 0.783
• ghis: 0.607

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.948

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fem1b
• Phenotype: reproductive system phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: apoptotic process;protein ubiquitination;post-translational protein modification;regulation of ubiquitin-protein transferase activity;branching involved in prostate gland morphogenesis;epithelial cell maturation involved in prostate gland development;regulation of extrinsic apoptotic signaling pathway via death domain receptors;regulation of DNA damage checkpoint
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol
• Molecular function: ubiquitin-protein transferase activity;death receptor binding;protein binding