• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LYRM7 (HGNC:28072) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
LYR motif containing 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C5orf31
Alias symbols
FLJ20796, MZM1L
%HI
31.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
1.44(Read more about gnomAD LOEUF score)
Cytoband
5q23.3-q31.1
Genomic Coordinates
GRCh37/hg19: chr5:130506637-130541121 NCBI Ensembl UCSC
GRCh38/hg38: chr5:131170944-131205428 NCBI Ensembl UCSC
MANE Select Transcript
NM_181705.4 ENST00000379380.9 (Read more about MANE Select)
Function
Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane. {ECO:0000269|PubMed:23168492}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8303
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • mitochondrial complex III deficiency nuclear type 8 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)