PRDM6 (PR/SET domain 6)

2014-11-01  

Identity

HGNC
PRDM6
LOCATION
5q23.2
LOCUSID
93166
ALIAS
KMT8C,PDA3,PRISM
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 93166
MIM: 616982
HGNC: 9350
Ensembl: ENSG00000061455

Variants:

dbSNP: 93166
ClinVar: 93166
TCGA: ENSG00000061455
COSMIC: PRDM6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000061455ENST00000407847Q9NQX0
ENSG00000061455ENST00000434521H7BZR2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
380714332024Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants.0
380714332024Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants.0
306770292019Genetic architecture of human thinness compared to severe obesity.39
306770292019Genetic architecture of human thinness compared to severe obesity.39
271816812016Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.15
271816812016Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.15
250354202014Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.23
250354202014Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.23
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

PRDM6 (PR/SET domain 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72196