KIAA1109 (KIAA1109)

2014-11-01 Affiliation

Identity

HGNC

KIAA1109

LOCATION

4q27

LOCUSID

84162

ALIAS

ALKKUCS,FSA,Tweek

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000138688	ENST00000264501	Q2LD37
ENSG00000138688	ENST00000306802	H3BLT5
ENSG00000138688	ENST00000388738	Q2LD37
ENSG00000138688	ENST00000419325	H7C070
ENSG00000138688	ENST00000421930	H7C2X5
ENSG00000138688	ENST00000424425	H7C121
ENSG00000138688	ENST00000438707	H0Y781
ENSG00000138688	ENST00000442707	H7C0Y8
ENSG00000138688	ENST00000446180	H7C0G8
ENSG00000138688	ENST00000449251	H7C3N8

Expression (GTEx)

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

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/kiaa1109-(kiaa1109)