AutismKB 2.0

Annotation Detail for SLC6A1


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Basic Information Top
Gene Symbol:SLC6A1 ( GABATHG,GABATR,GAT1 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Band: 3p25.3
Quick LinksEntrez ID:6529; OMIM: 137165; Uniprot ID:SC6A1_HUMAN; ENSEMBL ID: ENSG00000157103; HGNC ID: 11042
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 body1 / 7076114
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult44 / 193912122
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma12 / 106883112
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal87 / 336030725
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain97 / 110098988
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver8 / 20774338
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205152_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.3
Adipocyte7.5
AdrenalCortex10.3
Adrenalgland7.35
Amygdala819.4
Appendix12.55
AtrioventricularNode7.35
BDCA4+_DentriticCells6.85
Bonemarrow9.4
BronchialEpithelialCells6.3
CD105+_Endothelial8.15
CD14+_Monocytes8.25
CD19+_BCells(neg._sel.)7.6
CD33+_Myeloid8.95
CD34+10.4
CD4+_Tcells6
CD56+_NKCells7.55
CD71+_EarlyErythroid7.8
CD8+_Tcells5.45
CardiacMyocytes11.3
Caudatenucleus188.25
Cerebellum263.7
CerebellumPeduncles206.4
CiliaryGanglion7.1
CingulateCortex185.5
Colorectaladenocarcinoma6.8
DorsalRootGanglion8.1
FetalThyroid8.45
Fetalbrain128.65
Fetalliver41.15
Fetallung6.15
GlobusPallidus86.85
Heart17.35
Hypothalamus397
Kidney7.6
Leukemia_chronicMyelogenousK-5626.15
Leukemia_promyelocytic-HL-606.45
Leukemialymphoblastic(MOLT-4)5.95
Liver146.5
Lung8.3
Lymphnode6
Lymphoma_burkitts(Daudi)10.45
Lymphoma_burkitts(Raji)11.8
MedullaOblongata142.85
OccipitalLobe287.05
OlfactoryBulb16.4
Ovary5.75
Pancreas6.6
PancreaticIslet8.8
ParietalLobe209.7
Pituitary9
Placenta7.25
Pons63.4
PrefrontalCortex387.95
Prostate8.2
Salivarygland6.75
SkeletalMuscle13.3
Skin6.5
SmoothMuscle8.35
Spinalcord209.5
SubthalamicNucleus129.1
SuperiorCervicalGanglion49.55
TemporalLobe97.1
Testis6.85
TestisGermCell7.15
TestisIntersitial7.2
TestisLeydigCell9.9
TestisSeminiferousTubule6.9
Thalamus249.7
Thymus10
Thyroid7.85
Tongue9
Tonsil7.8
Trachea5.8
TrigeminalGanglion26.6
Uterus5.75
UterusCorpus8.3
WholeBlood8.35
Wholebrain515.3
colon8.65
pineal_day27.38
pineal_night34.72
retina128.35
small_intestine7.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P166758
  • 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
Amygdala8.38 ± 0.51
Basal Forebrain8.31 ± 0.2
Basal Part of Pons7.55 ± 0.32
Cerebellar Cortex7.65 ± 0.45
Cerebellar Nuclei8.16 ± 0.35
Claustrum7.89 ± 0.8
Epithalamus7.37 ± 0.65
Frontal Lobe8.03 ± 0.63
Globus Pallidus8.97 ± 0.47
Hypothalamus7.83 ± 0.49
Insula7.96 ± 0.57
Limbic Lobe8.02 ± 0.6
Mesencephalon8.29 ± 0.47
Myelencephalon8.15 ± 0.66
Occipital Lobe8.1 ± 0.62
Parietal Lobe8.28 ± 0.59
Pontine Tegmentum8.34 ± 0.57
Striatum8.43 ± 0.56
Subthalamus8.48 ± 0.45
Temporal Lobe8.16 ± 0.59
Thalamus8.6 ± 0.47
White Matter8.5 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc6a1CBCerebellum90.12
92.65
Slc6a1CTXCerebral cortex35.16
41.57
Slc6a1HIPHippocampal region29.1
51.16
Slc6a1HPFHippocampal formation36.48
52.82
Slc6a1HYHypothalamus19.01
14.93
Slc6a1LSXLateral septal complex36.81
31.04
Slc6a1MBMidbrain30.26
27
Slc6a1MYMedulla17.87
14.9
Slc6a1OLFOlfactory bulb51.25
46.72
Slc6a1PPons29.18
25.72
Slc6a1PALPallidum44.89
53.08
Slc6a1RHPRetrohippocampal region46.7
53.95
Slc6a1sAMYStriatum-like amygdalar nuclei42.12
36.9
Slc6a1STRStriatum25.02
22
Slc6a1STRdStriatum dorsal region15.86
14.73
Slc6a1STRvStriatum ventral region46.13
35.86
Slc6a1THThalamus7.25
5.21
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00067613 7 70 76 FPYLCGK 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


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