FAM241A

family with sequence similarity 241 member A

Basic information

Region (hg38): 4:112145454-112195256

Previous symbols: [ "C4orf32" ]

Links

ENSG00000174749 ∙ NCBI:132720 ∙ ∙ HGNC:26813 ∙ Uniprot:Q8N8J7 ∙ 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 FAM241A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM241A 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in FAM241A

This is a list of pathogenic ClinVar variants found in the FAM241A region.

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

Position	Type	Phenotype	Significance	ClinVar
4-112145626-C-A		not specified	Uncertain significance (Jul 20, 2021)
4-112186909-T-G		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM241A	protein_coding	protein_coding	ENST00000309733	2	49860

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.659	0.319	125716	0	16	125732	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.412	38	45.9	0.829	0.00000215	836
Missense in Polyphen		17	25.286	0.67231		350
Synonymous	-0.567	19	16.1	1.18	8.03e-7	272
Loss of Function	1.73	0	3.49	0.00	2.47e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000114	0.000114
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0784

Haploinsufficiency Scores

• pHI: 0.0984
• hipred: N
• hipred_score: 0.261
• ghis: 0.414

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam241a

Gene ontology

• Cellular component: Golgi apparatus;integral component of membrane;intracellular membrane-bounded organelle