ICE1 (interactor of little elongation complex ELL subunit 1)

2014-11-01  

Identity

HGNC
ICE1
LOCATION
5p15.32
LOCUSID
23379
ALIAS
KIAA0947
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23379
MIM: 617958
HGNC: 29154
Ensembl: ENSG00000164151

Variants:

dbSNP: 23379
ClinVar: 23379
TCGA: ENSG00000164151
COSMIC: ICE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164151ENST00000296564Q9Y2F5
ENSG00000164151ENST00000512608A0A096LPH9

Expression (GTEx)

0
5
10
15
20
25
30
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
Gene ExpressionREACTOMER-HSA-74160
RNA polymerase II transcribes snRNA genesREACTOMER-HSA-6807505

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
295282872018ICE1 promotes the link between splicing and nonsense-mediated mRNA decay.13
266016582016Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.6
272681412016p53 represses the transcription of snRNA genes by preventing the formation of little elongation complex.2

Citation

Dessen P

ICE1 (interactor of little elongation complex ELL subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64491/ice1