FAM241B

family with sequence similarity 241 member B

Basic information

Region (hg38): 10:69630246-69633596

Previous symbols: [ "C10orf35" ]

Links

ENSG00000171224 ∙ NCBI:219738 ∙ ∙ HGNC:23519 ∙ Uniprot:Q96D05 ∙ 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 FAM241B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM241B 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM241B	protein_coding	protein_coding	ENST00000373279	2	3346

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0164	0.722	125701	0	9	125710	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.289	67	74.0	0.906	0.00000450	773
Missense in Polyphen		30	41.164	0.7288		405
Synonymous	0.852	24	29.9	0.802	0.00000164	273
Loss of Function	0.712	3	4.66	0.644	3.54e-7	28

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000597	0.0000597
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000449	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000332	0.0000327
Other	0.000171	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0320

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.0141
• hipred: N
• hipred_score: 0.208
• ghis: 0.482

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam241b

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding