ROMO1

reactive oxygen species modulator 1, the group of Tim17 family

Basic information

Region (hg38): 20:35699271-35700984

Previous symbols: [ "C20orf52" ]

Links

ENSG00000125995 ∙ NCBI:140823 ∙ OMIM:618894 ∙ HGNC:16185 ∙ Uniprot:P60602 ∙ 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 ROMO1 gene.

• not specified (4 variants)
• not provided (3 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ROMO1 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			1	1		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	5		6
Total	0	0	2	6	0

Variants in ROMO1

This is a list of pathogenic ClinVar variants found in the ROMO1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-35699278-C-T			Uncertain significance (Jul 31, 2022)
20-35699297-T-A		NFS1-related disorder	Likely benign (Mar 06, 2019)
20-35699310-C-T		not specified	Likely benign (Oct 26, 2017)
20-35699326-A-C		not specified	Likely benign (Oct 18, 2017)
20-35699327-G-C		not specified	Likely benign (Oct 03, 2017)
20-35699331-T-G		not specified	Likely benign (Mar 06, 2018)
20-35699435-C-T			Likely benign (Jun 28, 2018)
20-35699657-G-A			Likely benign (Nov 27, 2018)
20-35699744-G-C		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ROMO1	protein_coding	protein_coding	ENST00000374078	2	1713

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.234	0.655	125744	0	4	125748	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.09	33	55.8	0.591	0.00000300	516
Missense in Polyphen		8	15.703	0.50946		161
Synonymous	-0.553	24	20.8	1.15	0.00000118	161
Loss of Function	1.14	1	3.21	0.312	2.04e-7	25

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000884	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces production of reactive oxygen species (ROS) which are necessary for cell proliferation. May play a role in inducing oxidative DNA damage and replicative senescence. May play a role in the coordination of mitochondrial morphology and cell proliferation.
• Pathway: TNFalpha (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.12

Haploinsufficiency Scores

• pHI: 0.257
• hipred: Y
• hipred_score: 0.593

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.754

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Romo1

Gene ontology

• Biological process: replicative cell aging;positive regulation of cell population proliferation;protein import into mitochondrial matrix;killing of cells of other organism;cellular response to reactive oxygen species;defense response to bacterium;protein insertion into mitochondrial inner membrane;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;cytolysis in other organism;antimicrobial humoral immune response mediated by antimicrobial peptide;positive regulation of reactive oxygen species metabolic process
• Cellular component: mitochondrion;TIM23 mitochondrial import inner membrane translocase complex;integral component of membrane
• Molecular function: molecular_function