ODR4

odr-4 GPCR localization factor homolog

Basic information

Region (hg38): 1:186375838-186421378

Previous symbols: [ "C1orf27" ]

Links

ENSG00000157181 ∙ NCBI:54953 ∙ OMIM:609335 ∙ HGNC:24299 ∙ Uniprot:Q5SWX8 ∙ 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 ODR4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ODR4 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5		1	6
Total	0	0	10	0	1

Variants in ODR4

This is a list of pathogenic ClinVar variants found in the ODR4 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-186383149-C-G		not specified	Uncertain significance (Sep 30, 2021)
1-186386079-G-A		not specified	Uncertain significance (Oct 22, 2021)
1-186398335-C-T		not specified	Uncertain significance (Sep 01, 2021)
1-186401058-C-T		not specified	Uncertain significance (Aug 08, 2022)
1-186401059-C-T		not specified	Uncertain significance (Nov 19, 2022)
1-186401100-A-G		not specified	Uncertain significance (Sep 29, 2022)
1-186401119-T-C		not specified	Uncertain significance (Jul 20, 2022)
1-186401131-G-A		not specified	Uncertain significance (Feb 10, 2022)
1-186401149-C-G			Benign (Oct 17, 2018)
1-186401163-A-G		not specified	Uncertain significance (Jun 16, 2024)
1-186406208-G-A		not specified	Uncertain significance (Jun 11, 2021)
1-186419020-G-A		not specified	Uncertain significance (Oct 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ODR4	protein_coding	protein_coding	ENST00000287859	13	45621

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.71e-7	0.919	124606	0	18	124624	0.0000722

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.827	176	210	0.839	0.00000974	2954
Missense in Polyphen		35	52.066	0.67223		697
Synonymous	0.404	67	71.3	0.939	0.00000348	817
Loss of Function	1.75	14	23.1	0.607	0.00000109	334

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000129	0.000129
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000680	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000133
Middle Eastern	0.0000680	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the trafficking of a subset of G- protein coupled receptors. {ECO:0000250|UniProtKB:Q8I7F8}.

Recessive Scores

• pRec: 0.0956

Intolerance Scores

• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.98

Haploinsufficiency Scores

• pHI: 0.421
• hipred: N
• hipred_score: 0.292
• ghis: 0.480

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Odr4

Gene ontology

• Biological process: protein localization
• Cellular component: integral component of membrane