ERAL1

Era like 12S mitochondrial rRNA chaperone 1

Basic information

Region (hg38): 17:28855010-28861061

Links

ENSG00000132591

∙ NCBI:26284 ∙ OMIM:607435 ∙ HGNC:3424 ∙ Uniprot:O75616 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Perrault syndrome 6 (Moderate), mode of inheritance: AR
Perrault syndrome (Supportive), mode of inheritance: AR
Perrault syndrome 6 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Perrault syndrome 6	AR	Audiologic/Otolaryngologic; Obstetric	Hearing loss has been described in early childhood, and early recognition and treatment of hearing impairment may improve outcomes, including speech and language development; Genetic knowledge may allow fertility preservation such as by storing eggs in woman with premature ovarian failure	Audiologic/Otolaryngologic; Obstetric	28449065

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ERAL1 gene.

not_specified (43 variants)
ERAL1-related_disorder (8 variants)
not_provided (3 variants)
Perrault_syndrome_6 (3 variants)
Perrault_syndrome (1 variants)
Hearing_impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERAL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005702.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar	1 clinvar	4
missense	1 clinvar		46 clinvar	5 clinvar		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	46	8	1

Highest pathogenic variant AF is 0.0000018587614

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERAL1	protein_coding	protein_coding	ENST00000254928	10	6130

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.11e-9	0.751	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.358	222	238	0.935	0.0000117	2831
Missense in Polyphen		34	43.646	0.779		514
Synonymous	1.06	83	96.2	0.863	0.00000467	902
Loss of Function	1.47	17	24.9	0.683	0.00000134	253

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000264	0.000264
Ashkenazi Jewish	0.00198	0.00199
East Asian	0.000598	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000598	0.000598
South Asian	0.0000709	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly. {ECO:0000269|PubMed:20430825, ECO:0000269|PubMed:20604745, ECO:0000269|PubMed:28449065}.;
Disease: DISEASE: Perrault syndrome 6 (PRLTS6) [MIM:617565]: A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS6 inheritance is autosomal recessive. {ECO:0000269|PubMed:28449065}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: Integrated Breast Cancer Pathway;Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

pRec: 0.106

Intolerance Scores

loftool: 0.298
rvis_EVS: 0
rvis_percentile_EVS: 53.73

Haploinsufficiency Scores

pHI: 0.150
hipred: N
hipred_score: 0.197
ghis: 0.543

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: S
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.965

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Eral1
Phenotype

Gene ontology

Biological process: ribosomal small subunit assembly;mitochondrial translational elongation;mitochondrial translational termination
Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial matrix;cytosol
Molecular function: RNA binding;protein binding;GTP binding;rRNA binding;ribosomal small subunit binding