AutismKB 2.0

Annotation Detail for SLC12A6


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Basic Information Top
Gene Symbol:SLC12A6 ( ACCPN,DKFZp434D2135,KCC3,KCC3A,KCC3B )
Gene Full Name: solute carrier family 12 (potassium/chloride transporters), member 6
Band: 15q14
Quick LinksEntrez ID:9990; OMIM: 604878; Uniprot ID:S12A6_HUMAN; ENSEMBL ID: ENSG00000140199; HGNC ID: 10914
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 
blastocyst4 / 6231964
fetus22 / 56401239
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult68 / 193912135
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 tumor4 / 34366116
chondrosarcoma8 / 8282396
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal103 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone8 / 71655111
bone marrow2 / 4880140
brain27 / 110098924
cervix4 / 4817183
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye7 / 21105433
heart1 / 8962611
intestine3 / 23447212
kidney6 / 21177728
larynx0 / 241450 
liver6 / 20774328
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth5 / 6705274
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta5 / 28082517
prostate6 / 18934531
salivary gland1 / 2015549
skin8 / 21057437
spleen2 / 5395237
stomach1 / 9661910
testis44 / 330442133
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220740_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.85
Adipocyte4.75
AdrenalCortex5.05
Adrenalgland5.3
Amygdala5.1
Appendix4.8
AtrioventricularNode3.75
BDCA4+_DentriticCells5.35
Bonemarrow4.85
BronchialEpithelialCells4.7
CD105+_Endothelial4.65
CD14+_Monocytes5.1
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid6.3
CD34+6
CD4+_Tcells5.2
CD56+_NKCells5.45
CD71+_EarlyErythroid4.45
CD8+_Tcells4.5
CardiacMyocytes6
Caudatenucleus4.35
Cerebellum5.8
CerebellumPeduncles5.4
CiliaryGanglion4.6
CingulateCortex4.9
Colorectaladenocarcinoma4.8
DorsalRootGanglion4.2
FetalThyroid4.7
Fetalbrain4.8
Fetalliver4.15
Fetallung4
GlobusPallidus3.55
Heart6.45
Hypothalamus5.25
Kidney5.75
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.9
Liver6.5
Lung5.25
Lymphnode4.15
Lymphoma_burkitts(Daudi)6.15
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.65
OccipitalLobe4.3
OlfactoryBulb3.8
Ovary4.05
Pancreas3.95
PancreaticIslet5.15
ParietalLobe7.05
Pituitary5.6
Placenta4.95
Pons5.45
PrefrontalCortex5.35
Prostate5.65
Salivarygland3.85
SkeletalMuscle7.85
Skin3.8
SmoothMuscle5.45
Spinalcord5.15
SubthalamicNucleus4.35
SuperiorCervicalGanglion9.05
TemporalLobe4.95
Testis10.55
TestisGermCell5.25
TestisIntersitial30.55
TestisLeydigCell12.55
TestisSeminiferousTubule10.55
Thalamus4.9
Thymus3.75
Thyroid5.9
Tongue4.7
Tonsil4.65
Trachea4.05
TrigeminalGanglion5.35
Uterus3.9
UterusCorpus6.15
WholeBlood12.35
Wholebrain4.1
colon4.8
pineal_day5.7
pineal_night5.42
retina5.65
small_intestine4.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11761_PI416261804
  • 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
Amygdala6.05 ± 0.62
Basal Forebrain6.17 ± 0.28
Basal Part of Pons6.54 ± 0.28
Cerebellar Cortex6 ± 0.2
Cerebellar Nuclei6.53 ± 0.26
Claustrum5.81 ± 0.44
Epithalamus5.86 ± 0.52
Frontal Lobe6.19 ± 0.34
Globus Pallidus6.54 ± 0.24
Hypothalamus6.37 ± 0.23
Insula6.13 ± 0.21
Limbic Lobe6.14 ± 0.3
Mesencephalon6.29 ± 0.28
Myelencephalon6.22 ± 0.36
Occipital Lobe6.53 ± 0.27
Parietal Lobe6.3 ± 0.28
Pontine Tegmentum6.22 ± 0.41
Striatum6.53 ± 0.32
Subthalamus6.57 ± 0.08
Temporal Lobe6.22 ± 0.28
Thalamus6.25 ± 0.29
White Matter7.1 ± 0.08
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc12a6CBCerebellum25.27
37.5
Slc12a6CTXCerebral cortex53.47
41.11
Slc12a6HIPHippocampal region33.16
45.67
Slc12a6HPFHippocampal formation30.66
35.12
Slc12a6HYHypothalamus5.46
4.37
Slc12a6LSXLateral septal complex8.26
5.47
Slc12a6MBMidbrain11.42
10.87
Slc12a6MYMedulla23.73
26.2
Slc12a6OLFOlfactory bulb60.42
55.68
Slc12a6PPons18.38
21.87
Slc12a6PALPallidum7.77
6.95
Slc12a6RHPRetrohippocampal region26.47
21.52
Slc12a6sAMYStriatum-like amygdalar nuclei8.4
6.91
Slc12a6STRStriatum13.79
10.25
Slc12a6STRdStriatum dorsal region13.76
10.38
Slc12a6STRvStriatum ventral region19.12
13.22
Slc12a6THThalamus7.05
6.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00525743 11 1052 1062 LVLLNMPGPPR 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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