RIMOC1

RAB7A interacting MON1-CCZ1 complex subunit 1

Basic information

Region (hg38): 5:41904188-41921636

Previous symbols: [ "C5orf51" ]

Links

ENSG00000205765 ∙ NCBI:285636 ∙ OMIM:620266 ∙ HGNC:27750 ∙ Uniprot:A6NDU8 ∙ 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 RIMOC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIMOC1 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in RIMOC1

This is a list of pathogenic ClinVar variants found in the RIMOC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-41904375-C-T		not specified	Uncertain significance (Aug 12, 2021)
5-41904458-G-A		not specified	Uncertain significance (Aug 16, 2021)
5-41911117-T-C		not specified	Uncertain significance (Aug 13, 2021)
5-41912168-A-G		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RIMOC1	protein_coding	protein_coding	ENST00000381647	6	17449

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000311	0.795	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.250	135	143	0.941	0.00000679	1905
Missense in Polyphen		34	48.82	0.69643		666
Synonymous	-0.445	56	51.9	1.08	0.00000239	536
Loss of Function	1.30	11	16.8	0.656	9.60e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000977	0.0000967
Middle Eastern	0.0000544	0.0000544
South Asian	0.000229	0.000229
Other	0.000661	0.000652

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.573
• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.49

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.229
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: AW549877

Gene ontology

• Cellular component: nucleoplasm;cytosol