AutismKB 2.0

Annotation Detail for SLC6A8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC6A8 ( CRT,CRTR,CT1,MGC87396 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Band: Xq28
Quick LinksEntrez ID:6535; OMIM: 300036; Uniprot ID:SC6A8_HUMAN; ENSEMBL ID: ENSG00000130821; HGNC ID: 11055
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body3 / 7076142
blastocyst12 / 62319192
fetus30 / 56401253
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult170 / 193912187
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor15 / 114246131
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor8 / 26384530
glioma25 / 106883233
head and neck tumor12 / 13630288
kidney tumor8 / 68959116
leukemia5 / 9584252
liver tumor1 / 9635910
lung tumor10 / 10312796
lymphoma0 / 717550 
non-neoplasia12 / 97250123
normal205 / 336030761
ovarian tumor13 / 76682169
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer12 / 102680116
retinoblastoma4 / 4635686
skin tumor41 / 124949328
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites4 / 4001599
bladder1 / 2975733
blood2 / 12347816
bone8 / 71655111
bone marrow0 / 488010 
brain91 / 110098982
cervix3 / 4817162
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye30 / 211054142
heart5 / 8962655
intestine35 / 234472149
kidney23 / 211777108
larynx2 / 2414582
liver1 / 2077434
lung19 / 33697456
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth6 / 6705289
muscle6 / 10771555
nerve0 / 157680 
ovary15 / 102051146
pancreas8 / 21481237
parathyroid6 / 20539292
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta17 / 28082560
prostate18 / 18934595
salivary gland1 / 2015549
skin60 / 210574284
spleen0 / 539520 
stomach4 / 9661941
testis17 / 33044251
thymus3 / 8113136
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213843_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts5
Adipocyte5.35
AdrenalCortex5.2
Adrenalgland4.4
Amygdala11.45
Appendix5.2
AtrioventricularNode3.55
BDCA4+_DentriticCells4.4
Bonemarrow5.9
BronchialEpithelialCells27.4
CD105+_Endothelial51.65
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.85
CD33+_Myeloid5.15
CD34+5.85
CD4+_Tcells4.85
CD56+_NKCells4.8
CD71+_EarlyErythroid420.5
CD8+_Tcells4.4
CardiacMyocytes6.7
Caudatenucleus6.55
Cerebellum4.3
CerebellumPeduncles5.85
CiliaryGanglion3.6
CingulateCortex5.8
Colorectaladenocarcinoma11.2
DorsalRootGanglion3.5
FetalThyroid5.05
Fetalbrain5.35
Fetalliver6.55
Fetallung4.45
GlobusPallidus3.5
Heart22.2
Hypothalamus6.25
Kidney4.95
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4.1
Liver6.1
Lung5.6
Lymphnode4.4
Lymphoma_burkitts(Daudi)6
Lymphoma_burkitts(Raji)7.3
MedullaOblongata6.55
OccipitalLobe5.55
OlfactoryBulb4.15
Ovary3.9
Pancreas4.2
PancreaticIslet4.95
ParietalLobe5.55
Pituitary6
Placenta12.65
Pons5.6
PrefrontalCortex10.8
Prostate6.9
Salivarygland5.3
SkeletalMuscle6
Skin3.5
SmoothMuscle8.85
Spinalcord5.8
SubthalamicNucleus4.75
SuperiorCervicalGanglion5.8
TemporalLobe4.75
Testis13.4
TestisGermCell10.8
TestisIntersitial7.65
TestisLeydigCell6.95
TestisSeminiferousTubule8.4
Thalamus5.25
Thymus4.15
Thyroid6.45
Tongue6.9
Tonsil5.1
Trachea4.55
TrigeminalGanglion5.1
Uterus4.3
UterusCorpus4.65
WholeBlood5.05
Wholebrain6.45
colon5.3
pineal_day48.78
pineal_night45.92
retina20.5
small_intestine5.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P23400
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala6.78 ± 0.35
Basal Forebrain7.26 ± 0.65
Basal Part of Pons7.17 ± 0.31
Cerebellar Cortex6.79 ± 0.39
Cerebellar Nuclei6.94 ± 0.38
Claustrum6.49 ± 0.46
Epithalamus6.89 ± 0.54
Frontal Lobe6.96 ± 0.46
Globus Pallidus7.18 ± 0.34
Hypothalamus6.47 ± 0.35
Insula6.89 ± 0.46
Limbic Lobe6.97 ± 0.49
Mesencephalon6.9 ± 0.39
Myelencephalon6.96 ± 0.43
Occipital Lobe7.01 ± 0.36
Parietal Lobe7.01 ± 0.39
Pontine Tegmentum6.82 ± 0.42
Striatum7.08 ± 0.38
Subthalamus6.89 ± 0.21
Temporal Lobe6.98 ± 0.36
Thalamus7.02 ± 0.36
White Matter7.75 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc6a8CBCerebellum18.12
23.48
Slc6a8CTXCerebral cortex43.69
31.95
Slc6a8HIPHippocampal region28.03
29.59
Slc6a8HPFHippocampal formation29.56
27.4
Slc6a8HYHypothalamus8.78
7.12
Slc6a8LSXLateral septal complex5.65
3.83
Slc6a8MBMidbrain13.89
14.19
Slc6a8MYMedulla25.48
29.72
Slc6a8OLFOlfactory bulb29.02
22.11
Slc6a8PPons22.84
25.48
Slc6a8PALPallidum14.23
14.13
Slc6a8RHPRetrohippocampal region32.23
24.81
Slc6a8sAMYStriatum-like amygdalar nuclei6.16
5.14
Slc6a8STRStriatum10.3
7.4
Slc6a8STRdStriatum dorsal region10.53
7.51
Slc6a8STRvStriatum ventral region11.71
8
Slc6a8THThalamus17.42
15.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00878371 7 78 84 FPYLCYK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018