DIRC1 (disrupted in renal carcinoma 1)

2004-06-01 Anita Bonné , Eric Schoenmakers , Ad Geurts van Kessel Affiliation

Department of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

Identity

HGNC

DIRC1

LOCATION

2q32.2

LOCUSID

116093

ALIAS

FUSION GENES

Show Gene Fusions

DNA/RNA

Description

The DIRC1 gene contains 2 exons and spans approximately 57 kb of genomic DNA

Proteins

Expression

Expression in adult placenta, testis, ovary, prostate, and in fetal kidney, spleen, and skeletal muscle.

Function

unknown

Implicated in

Entity name

t(2;3)(q33;q21) in hereditary renal cell cancer.

Disease

Familial renal cell cancer.

Cytogenetics

Disruption of the gene because of the t(2;3) translocation.

Bibliography

Pubmed ID	Last Year	Title	Authors
11587072	2001	The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.	Druck T et al
11776380	2001	Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.	Podolski J et al

Other Information

Locus ID:

NCBI: 116093
MIM: 606423
HGNC: 15760
Ensembl: ENSG00000174325

Variants:

dbSNP: 116093
ClinVar: 116093
TCGA: ENSG00000174325
COSMIC: DIRC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000174325	ENST00000308100	Q969H9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
30575946	2018	Significant association of DIRC1 overexpression with tumor progression and poor prognosis in gastric cancer.	1

Citation

Anita Bonné ; Eric Schoenmakers ; Ad Geurts van Kessel

DIRC1 (disrupted in renal carcinoma 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-06-01

Online version: http://atlasgeneticsoncology.org/gene/499/dirc1