Identity
HGNC
LOCATION
4q27
LOCUSID
ALIAS
ALKKUCS,FSA,Tweek
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: 84162
MIM: 611565
HGNC: 26953
Ensembl: ENSG00000138688
Variants:
dbSNP: 84162
ClinVar: 84162
TCGA: ENSG00000138688
COSMIC: KIAA1109
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31736083 | 2020 | Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy. | 2 |
| 32590954 | 2020 | KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature. | 4 |
| 32657846 | 2020 | Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers. | 4 |
| 31736083 | 2020 | Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy. | 2 |
| 32590954 | 2020 | KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature. | 4 |
| 32657846 | 2020 | Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers. | 4 |
| 30552067 | 2019 | Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study. | 111 |
| 30552067 | 2019 | Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study. | 111 |
| 29290337 | 2018 | KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. | 21 |
| 29290337 | 2018 | KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. | 21 |
| 25037274 | 2014 | Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population. | 5 |
| 25037274 | 2014 | Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population. | 5 |
| 22876110 | 2012 | Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis. | 9 |
| 22876110 | 2012 | Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis. | 9 |
| 20197757 | 2010 | Disease activity, ANCA, and IL23R genotype status determine early response to infliximab in patients with ulcerative colitis. | 64 |
Citation
Dessen P
KIAA1109 (KIAA1109)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64872/submit-meetings/
