AutismKB 2.0

Annotation Detail for SLC12A9


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC12A9 ( CIP1,FLJ46905 )
Gene Full Name: solute carrier family 12 (potassium/chloride transporters), member 9
Band: 7q22.1
Quick LinksEntrez ID:56996; OMIM: NA; Uniprot ID:S12A9_HUMAN; ENSEMBL ID: ENSG00000146828; HGNC ID: 17435
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 body4 / 7076156
blastocyst5 / 6231980
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult68 / 193912135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor9 / 26384534
glioma13 / 106883121
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal76 / 336030722
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder2 / 2975767
blood5 / 12347840
bone4 / 7165555
bone marrow0 / 488010 
brain24 / 110098921
cervix7 / 48171145
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye4 / 21105418
heart3 / 8962633
intestine6 / 23447225
kidney7 / 21177733
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node4 / 9161043
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve2 / 15768126
ovary5 / 10205148
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta21 / 28082574
prostate7 / 18934536
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach8 / 9661982
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220371_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.15
Adipocyte10.05
AdrenalCortex10.4
Adrenalgland8.2
Amygdala10.45
Appendix9.15
AtrioventricularNode16.65
BDCA4+_DentriticCells45.8
Bonemarrow9.8
BronchialEpithelialCells7.95
CD105+_Endothelial10.2
CD14+_Monocytes168.2
CD19+_BCells(neg._sel.)25.7
CD33+_Myeloid63
CD34+13.8
CD4+_Tcells45.6
CD56+_NKCells51.85
CD71+_EarlyErythroid11.55
CD8+_Tcells22.6
CardiacMyocytes11.9
Caudatenucleus10.6
Cerebellum7.95
CerebellumPeduncles11.3
CiliaryGanglion6.85
CingulateCortex10.1
Colorectaladenocarcinoma20.6
DorsalRootGanglion8.3
FetalThyroid9.8
Fetalbrain9.7
Fetalliver8.45
Fetallung8.8
GlobusPallidus11.95
Heart12.4
Hypothalamus12.1
Kidney8.05
Leukemia_chronicMyelogenousK-5629
Leukemia_promyelocytic-HL-608.45
Leukemialymphoblastic(MOLT-4)9.8
Liver13
Lung17.8
Lymphnode13.3
Lymphoma_burkitts(Daudi)12.8
Lymphoma_burkitts(Raji)13.7
MedullaOblongata9.35
OccipitalLobe11.3
OlfactoryBulb9.1
Ovary6.6
Pancreas8
PancreaticIslet10.45
ParietalLobe10.45
Pituitary11.55
Placenta13.6
Pons12.95
PrefrontalCortex12.65
Prostate11.65
Salivarygland7.9
SkeletalMuscle14.2
Skin10.7
SmoothMuscle10.9
Spinalcord13.05
SubthalamicNucleus11.4
SuperiorCervicalGanglion11.05
TemporalLobe9.15
Testis8.15
TestisGermCell7.55
TestisIntersitial8.2
TestisLeydigCell9.55
TestisSeminiferousTubule8.4
Thalamus10.2
Thymus7.45
Thyroid12.8
Tongue10.45
Tonsil9.8
Trachea8.4
TrigeminalGanglion9.8
Uterus8.35
UterusCorpus8.9
WholeBlood22.75
Wholebrain8.05
colon9.65
pineal_day13.64
pineal_night11.9
retina12.3
small_intestine9.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P126471
  • 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
Amygdala3.29 ± 0.46
Basal Forebrain3.08 ± 0.87
Basal Part of Pons2.78 ± 0.61
Cerebellar Cortex2.89 ± 0.64
Cerebellar Nuclei2.96 ± 0.45
Claustrum3.05 ± 0.79
Epithalamus2.86 ± 0.72
Frontal Lobe2.94 ± 0.61
Globus Pallidus3.65 ± 0.47
Hypothalamus2.93 ± 0.69
Insula2.3 ± 0.55
Limbic Lobe2.93 ± 0.63
Mesencephalon2.94 ± 0.62
Myelencephalon2.96 ± 0.62
Occipital Lobe2.66 ± 0.64
Parietal Lobe2.95 ± 0.62
Pontine Tegmentum2.85 ± 0.65
Striatum3.05 ± 0.61
Subthalamus2.67 ± 0.64
Temporal Lobe2.9 ± 0.62
Thalamus3.03 ± 0.56
White Matter4.25 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc12a9HYHypothalamus3.51
2.68
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039890 19 896 914 DLGPTLLVHGVTPVTCTDL 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