INTS1 (integrator complex subunit 1)

2014-08-01  

Identity

HGNC
INTS1
LOCATION
7p22.3
LOCUSID
26173
ALIAS
INT1,NDCAGF,NET28
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26173
MIM: 611345
HGNC: 24555
Ensembl: ENSG00000164880

Variants:

dbSNP: 26173
ClinVar: 26173
TCGA: ENSG00000164880
COSMIC: INTS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164880ENST00000404767Q8N201
ENSG00000164880ENST00000483196H7C582

Expression (GTEx)

0
50
100
150
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
small intestine
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
314289192020Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.6
323677512020A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.0
314289192020Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.6
323677512020A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.0
306223262019Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.15
306223262019Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.15
285421702017Human mutations in integrator complex subunits link transcriptome integrity to brain development.51
285421702017Human mutations in integrator complex subunits link transcriptome integrity to brain development.51

Citation

Dessen P

INTS1 (integrator complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54380