COL6A4P1 (collagen type VI alpha 4 pseudogene 1)

2014-11-01 Affiliation

Identity

HGNC

COL6A4P1

LOCATION

3p25.1

LOCUSID

344875

ALIAS

COL6A4,COL6A4P,DIVA,DVWA,FAME3,VWA6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 344875
MIM: 612397
HGNC: 33484
Ensembl: ENSG00000230524

Variants:

dbSNP: 344875
ClinVar: 344875
TCGA: ENSG00000230524
COSMIC: COL6A4P1

RNA/Proteins

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
18400749	2008	Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI).	58
19054821	2009	Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations.	29
20939878	2010	Prediction model for knee osteoarthritis based on genetic and clinical information.	19
20848793	2010	[Association between polymorphism in DVWA and IL-1beta and Kashin-Beck disease].	1
20848793	2010	[Association between polymorphism in DVWA and IL-1beta and Kashin-Beck disease].	1
18622395	2008	Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis.	0
19181678	2009	Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations.	0
19181678	2009	Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations.	0
20238217	2011	Lack of evidence for association between DVWA gene polymorphisms and developmental dysplasia of the hip in Chinese Han population.	0
20238217	2011	Lack of evidence for association between DVWA gene polymorphisms and developmental dysplasia of the hip in Chinese Han population.	0

Citation

Dessen P

COL6A4P1 (collagen type VI alpha 4 pseudogene 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61997/col6a4p1