FAM124B

family with sequence similarity 124 member B

Basic information

Region (hg38): 2:224378698-224402107

Links

ENSG00000124019 ∙ NCBI:79843 ∙ OMIM:618403 ∙ HGNC:26224 ∙ Uniprot:Q9H5Z6 ∙ 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 FAM124B gene.

• not_specified (60 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM124B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001122779.2. 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			54	5		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM124B	protein_coding	protein_coding	ENST00000409685	2	23388

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000107	0.590	125684	0	53	125737	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.678	221	251	0.880	0.0000138	2969
Missense in Polyphen		80	79.209	1.01		915
Synonymous	0.528	102	109	0.936	0.00000658	935
Loss of Function	0.815	9	12.1	0.747	5.15e-7	139

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000771	0.000770
Ashkenazi Jewish	0.00	0.00
East Asian	0.000328	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000328	0.000326
South Asian	0.000440	0.000425
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0902

Intolerance Scores

• loftool: 0.900
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.0707
• hipred: N
• hipred_score: 0.146
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.709

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam124b

Gene ontology

• Cellular component: nucleoplasm;mitochondrion
• Molecular function: protein binding