AutismKB 2.0

Annotation Detail for SLC12A1


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Basic Information Top
Gene Symbol:SLC12A1 ( BSC1,MGC48843,NKCC2 )
Gene Full Name: solute carrier family 12 (sodium/potassium/chloride transporters), member 1
Band: 15q21.1
Quick LinksEntrez ID:6557; OMIM: 600839; Uniprot ID:S12A1_HUMAN; ENSEMBL ID: ENSG00000074803; HGNC ID: 10910
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 body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult9 / 19391214
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal156 / 336030746
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney158 / 211777746
larynx0 / 241450 
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
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: 220281_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.25
Adipocyte8.9
AdrenalCortex14.9
Adrenalgland9.05
Amygdala9.2
Appendix13.95
AtrioventricularNode10.9
BDCA4+_DentriticCells8.95
Bonemarrow10.1
BronchialEpithelialCells9.05
CD105+_Endothelial9.1
CD14+_Monocytes10.45
CD19+_BCells(neg._sel.)9.5
CD33+_Myeloid10.45
CD34+11.25
CD4+_Tcells8.95
CD56+_NKCells9.5
CD71+_EarlyErythroid9.35
CD8+_Tcells7.6
CardiacMyocytes16.55
Caudatenucleus8.4
Cerebellum7.7
CerebellumPeduncles11.6
CiliaryGanglion11.2
CingulateCortex9.7
Colorectaladenocarcinoma9.25
DorsalRootGanglion10.4
FetalThyroid10.05
Fetalbrain9
Fetalliver8.75
Fetallung6.5
GlobusPallidus7.2
Heart20.35
Hypothalamus10.2
Kidney580.35
Leukemia_chronicMyelogenousK-5628.6
Leukemia_promyelocytic-HL-608.35
Leukemialymphoblastic(MOLT-4)7.3
Liver17.4
Lung10.3
Lymphnode7.25
Lymphoma_burkitts(Daudi)12.4
Lymphoma_burkitts(Raji)16.7
MedullaOblongata8.15
OccipitalLobe8.15
OlfactoryBulb7.1
Ovary8.2
Pancreas8.65
PancreaticIslet10.45
ParietalLobe11.25
Pituitary11.1
Placenta8.4
Pons10.3
PrefrontalCortex10.25
Prostate11
Salivarygland8.4
SkeletalMuscle19
Skin11.35
SmoothMuscle10.75
Spinalcord10.1
SubthalamicNucleus9.8
SuperiorCervicalGanglion23.1
TemporalLobe9.3
Testis8.05
TestisGermCell7.7
TestisIntersitial8.45
TestisLeydigCell9.8
TestisSeminiferousTubule8
Thalamus9.9
Thymus6.65
Thyroid10.4
Tongue11.2
Tonsil9.65
Trachea7.9
TrigeminalGanglion13.65
Uterus7
UterusCorpus11.15
WholeBlood10.3
Wholebrain7.3
colon9.5
pineal_day11
pineal_night10.84
retina11.35
small_intestine8.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P136029
  • 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
Amygdala2.59 ± 0.96
Basal Forebrain2.18 ± 0.24
Basal Part of Pons1.9 ± 0.43
Cerebellar Cortex2.07 ± 0.65
Cerebellar Nuclei2.43 ± 0.71
Claustrum2.94 ± 0.8
Epithalamus1.97 ± 0.72
Frontal Lobe2.04 ± 0.64
Globus Pallidus2.43 ± 0.36
Hypothalamus2.36 ± 0.71
Insula2.02 ± 0.56
Limbic Lobe2.17 ± 0.65
Mesencephalon2.36 ± 0.68
Myelencephalon2.21 ± 0.61
Occipital Lobe2.36 ± 0.6
Parietal Lobe2.21 ± 0.65
Pontine Tegmentum2.23 ± 0.66
Striatum2.32 ± 0.65
Subthalamus2.32 ± 0.64
Temporal Lobe2.12 ± 0.63
Thalamus2.13 ± 0.59
White Matter2.42 ± 0.09
Mouse Brain ISH
Peptide Top

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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