KIAA1109 (KIAA1109)

2014-11-01  

Identity

HGNC
KIAA1109
LOCATION
4q27
LOCUSID
84162
ALIAS
ALKKUCS,FSA,Tweek
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84162
MIM: 611565
HGNC: 26953
Ensembl: ENSG00000138688

Variants:

dbSNP: 84162
ClinVar: 84162
TCGA: ENSG00000138688
COSMIC: KIAA1109

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138688ENST00000264501Q2LD37
ENSG00000138688ENST00000306802H3BLT5
ENSG00000138688ENST00000388738Q2LD37
ENSG00000138688ENST00000419325H7C070
ENSG00000138688ENST00000421930H7C2X5
ENSG00000138688ENST00000424425H7C121
ENSG00000138688ENST00000438707H0Y781
ENSG00000138688ENST00000442707H7C0Y8
ENSG00000138688ENST00000446180H7C0G8
ENSG00000138688ENST00000449251H7C3N8

Expression (GTEx)

0
5
10
15
20
25
30
35
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

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
317360832020Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.2
325909542020KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.4
326578462020Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.4
317360832020Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.2
325909542020KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.4
326578462020Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.4
305520672019Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.111
305520672019Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.111
292903372018KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.21
292903372018KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.21
250372742014Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population.5
250372742014Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population.5
228761102012Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis.9
228761102012Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis.9
201977572010Disease 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/haematological-explorer/cancer-prone-explorer/