KHDC1 (KH domain containing 1)

2014-11-01 Affiliation

Identity

HGNC

KHDC1

LOCATION

6q13

LOCUSID

80759

ALIAS

C6orf147,C6orf148,Em:AC019205.8,KHDC1L,NDG1,bA257K9.4

FUSION GENES

Show Gene Fusions

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: 80759
MIM: 611688
HGNC: 21366
Ensembl: ENSG00000135314

Variants:

dbSNP: 80759
ClinVar: 80759
TCGA: ENSG00000135314
COSMIC: KHDC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000135314	ENST00000257765	Q4VXA5
ENSG00000135314	ENST00000370384	Q4VXA5
ENSG00000135314	ENST00000433730	A6PVU5
ENSG00000135314	ENST00000610330	A0A087WY38
ENSG00000135314	ENST00000610435	Q4VXA5

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

Citation

Dessen P

KHDC1 (KH domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64842/case-report-explorer/teaching-explorer/css/card-gene.css