FAM83E

family with sequence similarity 83 member E, the group of Family with sequence similarity 83

Basic information

Region (hg38): 19:48599961-48615076

Links

ENSG00000105523 ∙ NCBI:54854 ∙ ∙ HGNC:25972 ∙ Uniprot:Q2M2I3 ∙ 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 FAM83E gene.

• not_specified (116 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM83E gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017708.4. 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				2		2
missense			93	6		99
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM83E	protein_coding	protein_coding	ENST00000263266	5	14045

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.43e-11	0.0447	124787	0	58	124845	0.000232

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.241	285	297	0.961	0.0000210	2913
Missense in Polyphen		80	101.76	0.7862		1031
Synonymous	-0.274	143	139	1.03	0.0000105	1070
Loss of Function	-0.178	15	14.3	1.05	6.98e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000328	0.000316
Ashkenazi Jewish	0.000400	0.000397
East Asian	0.000537	0.000501
Finnish	0.00	0.00
European (Non-Finnish)	0.000196	0.000177
Middle Eastern	0.000537	0.000501
South Asian	0.000547	0.000523
Other	0.000334	0.000329

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in MAPK signaling. {ECO:0000303|PubMed:24736947}.

Recessive Scores

• pRec: 0.105

Haploinsufficiency Scores

• pHI: 0.214
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.179

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam83e

Gene ontology

• Molecular function: protein kinase binding