Identity
HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
INT1,NDCAGF,NET28
FUSION GENES
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: 26173
MIM: 611345
HGNC: 24555
Ensembl: ENSG00000164880
Variants:
dbSNP: 26173
ClinVar: 26173
TCGA: ENSG00000164880
COSMIC: INTS1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164880 | ENST00000404767 | Q8N201 |
| ENSG00000164880 | ENST00000483196 | H7C582 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| RNA polymerase II transcribes snRNA genes | REACTOME | R-HSA-6807505 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31428919 | 2020 | Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. | 6 |
| 32367751 | 2020 | A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing. | 0 |
| 31428919 | 2020 | Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. | 6 |
| 32367751 | 2020 | A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing. | 0 |
| 30622326 | 2019 | Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. | 15 |
| 30622326 | 2019 | Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. | 15 |
| 28542170 | 2017 | Human mutations in integrator complex subunits link transcriptome integrity to brain development. | 51 |
| 28542170 | 2017 | Human 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/ints1-(integrator-complex-subunit-1)
