DIRC1 disrupted in renal carcinoma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DIRC1provided by HGNC
Official Full Name: disrupted in renal carcinoma 1provided by HGNC
Primary source: HGNC:HGNC:15760
See related: MIM:606423; AllianceGenome:HGNC:15760
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Disruption of DIRC1 by translocation is associated with familial clear cell renal cancer. Overexpression of DIRC1 is associated with tumor progression and poor prognosis in gastric cancer. [provided by RefSeq, Mar 2019]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 2q32.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (188733738..188790123, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (189222651..189279027, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (189598465..189654850, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study results showed that high expression of DIRC1 was found in gastric cancer (GC) tissues compared with normal gastric tissues. High expression of DIRC1 was associated with more cases of severer tumor malignancy and shorter overall survival; besides, high-level of DIRC1 was suggested to be an independent prognostic factor for GC. Knockdown of DIRC1 inhibited SGC-7901 GC cells proliferation, migration and invasion.
Title: Significant association of DIRC1 overexpression with tumor progression and poor prognosis in gastric cancer.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

D2S1815 (e-PCR)
- UniSTS:63840

NoName (e-PCR)
- UniSTS:483519

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.

Genomic

NG_027691.1 RefSeqGene

Range

4982..61367

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GenBank, FASTA, Sequence Viewer (Graphics)

RNA

NR_161166.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC079613

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

188733738..188790123 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

189222651..189279027 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_052952.3: Suppressed sequence

Description

NM_052952.3: This RefSeq was removed because currently there is support for the transcript but not for the protein.