OFCC1 orofacial cleft 1 candidate 1 (pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: OFCC1provided by HGNC
Official Full Name: orofacial cleft 1 candidate 1 (pseudogene)provided by HGNC
Primary source: HGNC:HGNC:21017
See related: MIM:614287; AllianceGenome:HGNC:21017
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Opo; MRDS1
Summary: Predicted to be located in several cellular components, including endoplasmic reticulum; microtubule cytoskeleton; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6p24.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (9704978..10211608, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (9573688..10079948, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (9705211..10211841, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Found OFCC1 R129G variant is probably a rare cause of Tourette syndrome/chronic tic phenotype in Chinese Han patients.
Title: Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.
Observational study of gene-disease association. (HuGE Navigator)
Title: Web-based, participant-driven studies yield novel genetic associations for common traits.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70751 (e-PCR)
- UniSTS:85788

SHGC-68683 (e-PCR)
- UniSTS:100666

D6S940 (e-PCR)
- UniSTS:149059

RH103555 (e-PCR)
- UniSTS:97880

D6S470 (e-PCR), detects polymorphism
- UniSTS:68191

SHGC-149829 (e-PCR)
- UniSTS:177247

RH119792 (e-PCR)
- UniSTS:133267

RH118520 (e-PCR)
- UniSTS:137921

D6S470 (e-PCR), detects polymorphism
- UniSTS:4306

DXS8199 (e-PCR)
- UniSTS:49879

NoName (e-PCR)
- UniSTS:485854

stdJ237I13T7 (e-PCR)
- UniSTS:181732

GDB:306049 (e-PCR)
- UniSTS:156414

Other Names

ojoplano
orofacial cleft 1 candidate gene 1 protein
orofacial clefting chromosomal breakpoint region candidate 1 protein

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.