YAE1

YAE1 maturation factor of ABCE1

Basic information

Region (hg38): 7:39566385-39610320

Previous symbols: [ "C7orf36", "YAE1D1" ]

Links

ENSG00000241127 ∙ NCBI:57002 ∙ ∙ HGNC:24857 ∙ Uniprot:Q9NRH1 ∙ 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 YAE1 gene.

• not_specified (25 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the YAE1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020192.5. 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						0
missense			24	1	1	26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	24	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
YAE1	protein_coding	protein_coding	ENST00000223273	3	43945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00150	0.887	125715	0	32	125747	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.288	107	116	0.925	0.00000513	1480
Missense in Polyphen		33	34.453	0.95782		437
Synonymous	0.442	41	44.8	0.916	0.00000206	420
Loss of Function	1.38	6	10.9	0.549	6.54e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000163	0.000163
Ashkenazi Jewish	0.000209	0.000198
East Asian	0.000114	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000160	0.000149
Middle Eastern	0.000114	0.000109
South Asian	0.000137	0.000131
Other	0.000343	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron- sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:26182403). {ECO:0000269|PubMed:26182403}.

Recessive Scores

• pRec: 0.0964

Intolerance Scores

• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.27

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.145
• ghis: 0.505

Essentials

• essential_gene_gene_trap: E

Mouse Genome Informatics

• Gene name: Yae1d1

Gene ontology

• Biological process: translational initiation;ribosomal large subunit biogenesis;protein maturation by [4Fe-4S] cluster transfer
• Cellular component: nucleus;cytoplasm