FAM47E

family with sequence similarity 47 member E

Basic information

Region (hg38): 4:76214039-76283783

Links

ENSG00000189157 ∙ NCBI:100129583 ∙ ∙ HGNC:34343 ∙ Uniprot:Q6ZV65 ∙ 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 FAM47E gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM47E 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			24	4		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	4	0

Variants in FAM47E

This is a list of pathogenic ClinVar variants found in the FAM47E region.

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

Position	Type	Phenotype	Significance	ClinVar
4-76251772-G-A		not specified	Likely benign (Feb 27, 2023)
4-76251798-G-C		not specified	Uncertain significance (Jan 23, 2024)
4-76256192-A-T		not specified	Uncertain significance (May 24, 2023)
4-76256254-G-A		not specified	Likely benign (Jan 17, 2023)
4-76256260-G-C		not specified	Uncertain significance (May 11, 2022)
4-76256355-A-C		not specified	Uncertain significance (Apr 12, 2022)
4-76256417-C-T		not specified	Uncertain significance (Sep 14, 2023)
4-76256485-G-A		not specified	Uncertain significance (Dec 02, 2022)
4-76256518-A-G		not specified	Likely benign (Mar 20, 2023)
4-76263760-G-T		not specified	Uncertain significance (Mar 07, 2023)
4-76263801-C-T		not specified	Uncertain significance (May 09, 2023)
4-76268674-C-T		not specified	Uncertain significance (Nov 18, 2022)
4-76268715-C-T		not specified	Uncertain significance (Dec 19, 2023)
4-76268737-A-G		not specified	Uncertain significance (Mar 23, 2022)
4-76268751-C-T		not specified	Uncertain significance (Nov 05, 2021)
4-76271602-A-G		not specified	Uncertain significance (Mar 01, 2023)
4-76271619-T-C		not specified	Uncertain significance (Aug 02, 2022)
4-76271631-C-G		not specified	Uncertain significance (May 15, 2024)
4-76271637-C-A		not specified	Uncertain significance (Feb 28, 2024)
4-76271653-C-T		not specified	Likely benign (Sep 27, 2021)
4-76271683-T-C		not specified	Uncertain significance (Dec 12, 2023)
4-76271692-G-A		not specified	Uncertain significance (May 30, 2024)
4-76271719-C-T		not specified	Uncertain significance (Feb 28, 2024)
4-76271764-C-T		not specified	Uncertain significance (Jul 13, 2021)
4-76278070-A-G		not specified	Uncertain significance (May 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM47E	protein_coding	protein_coding	ENST00000424749	8	69741

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00170	0.975	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.84	127	200	0.634	0.0000109	2551
Missense in Polyphen		23	42.88	0.53638		643
Synonymous	1.20	69	82.9	0.832	0.00000494	743
Loss of Function	1.99	7	15.4	0.453	6.49e-7	233

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.48
• rvis_percentile_EVS: 95.3

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.106

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam47e
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: cytoplasm
• Molecular function: molecular_function