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.35
295282872018ICE1 promotes the link between splicing and nonsense-mediated mRNA decay.35
266016582016Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.11
272681412016p53 represses the transcription of snRNA genes by preventing the formation of little elongation complex.2
266016582016Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.11
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