SLITRK1 (SLIT and NTRK like family member 1)

2014-11-01  

Identity

HGNC
SLITRK1
LOCATION
13q31.1
LOCUSID
114798
ALIAS
LRRC12,TTM

Other Information

Locus ID:

NCBI: 114798
MIM: 609678
HGNC: 20297
Ensembl: ENSG00000178235

Variants:

dbSNP: 114798
ClinVar: 114798
TCGA: ENSG00000178235
COSMIC: SLITRK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178235ENST00000377084Q96PX8
ENSG00000178235ENST00000674365Q96PX8

Expression (GTEx)

0
5
10
15
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
162240242005Sequence variants in SLITRK1 are associated with Tourette's syndrome.286
162240242005Sequence variants in SLITRK1 are associated with Tourette's syndrome.286
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
170352472006Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses.44
214584012011Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy.32
184135752008Lack of association between SLITRK1var321 and Tourette syndrome in a large family-based sample.29
170038092006SLITRK1 mutations in trichotillomania.28
170833402006Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome.23
186985762009Association of SLITRK1 to Gilles de la Tourette Syndrome.23
233337602013The genetic basis of Gilles de la Tourette Syndrome.23

Citation

Dessen P

SLITRK1 (SLIT and NTRK like family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73519/slitrk1