AutismKB 2.0

Annotation Detail for SLC12A5


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Basic Information Top
Gene Symbol:SLC12A5 ( KCC2,KIAA1176 )
Gene Full Name: solute carrier family 12 (potassium/chloride transporter), member 5
Band: 20q13.12
Quick LinksEntrez ID:57468; OMIM: 606726; Uniprot ID:S12A5_HUMAN; ENSEMBL ID: ENSG00000124140; HGNC ID: 13818
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 
adult44 / 193912122
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 tumor1 / 2638453
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal122 / 336030736
ovarian tumor0 / 766820 
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 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain78 / 110098970
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye30 / 211054142
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210040_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.75
Adipocyte8.55
AdrenalCortex12.65
Adrenalgland18.6
Amygdala961.85
Appendix27.7
AtrioventricularNode9.2
BDCA4+_DentriticCells7.6
Bonemarrow10.35
BronchialEpithelialCells7.95
CD105+_Endothelial8.25
CD14+_Monocytes7.9
CD19+_BCells(neg._sel.)7.2
CD33+_Myeloid9.75
CD34+9.1
CD4+_Tcells7.9
CD56+_NKCells7.75
CD71+_EarlyErythroid7.4
CD8+_Tcells5.9
CardiacMyocytes10.45
Caudatenucleus387.3
Cerebellum1167.05
CerebellumPeduncles832.8
CiliaryGanglion7.5
CingulateCortex431.5
Colorectaladenocarcinoma7.35
DorsalRootGanglion11.75
FetalThyroid7.4
Fetalbrain98.05
Fetalliver9.6
Fetallung6
GlobusPallidus282.15
Heart21.8
Hypothalamus411.4
Kidney13.65
Leukemia_chronicMyelogenousK-5627
Leukemia_promyelocytic-HL-606.6
Leukemialymphoblastic(MOLT-4)6.3
Liver14.75
Lung10
Lymphnode7.55
Lymphoma_burkitts(Daudi)8.35
Lymphoma_burkitts(Raji)13.25
MedullaOblongata509.15
OccipitalLobe507.95
OlfactoryBulb9.95
Ovary6.95
Pancreas6.7
PancreaticIslet7.85
ParietalLobe418.8
Pituitary10.9
Placenta8.9
Pons195.8
PrefrontalCortex1362.3
Prostate10.55
Salivarygland22.6
SkeletalMuscle17.95
Skin15.05
SmoothMuscle7.25
Spinalcord97.5
SubthalamicNucleus455.15
SuperiorCervicalGanglion91.3
TemporalLobe285.55
Testis6.6
TestisGermCell6.3
TestisIntersitial5.85
TestisLeydigCell12.55
TestisSeminiferousTubule6.3
Thalamus441.1
Thymus5.9
Thyroid9.95
Tongue7.7
Tonsil7.35
Trachea6.15
TrigeminalGanglion11.45
Uterus7.05
UterusCorpus34.85
WholeBlood9.15
Wholebrain904.1
colon8.05
pineal_day825.3
pineal_night745.8
retina181.9
small_intestine8.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8512_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
Amygdala9.33 ± 0.38
Basal Forebrain8.61 ± 0.3
Basal Part of Pons8.77 ± 0.43
Cerebellar Cortex8.89 ± 0.36
Cerebellar Nuclei8.99 ± 0.58
Claustrum9.1 ± 0.54
Epithalamus7.15 ± 0.92
Frontal Lobe8.76 ± 0.57
Globus Pallidus7.98 ± 0.35
Hypothalamus8.15 ± 1.04
Insula8.82 ± 0.52
Limbic Lobe9.33 ± 0.49
Mesencephalon8.95 ± 0.64
Myelencephalon8.92 ± 0.66
Occipital Lobe9.54 ± 0.59
Parietal Lobe9.12 ± 0.51
Pontine Tegmentum9.03 ± 0.49
Striatum9.42 ± 0.42
Subthalamus8.85 ± 0.09
Temporal Lobe8.97 ± 0.46
Thalamus9.04 ± 0.46
White Matter6.03 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc12a5CBCerebellum49.39
97.3
Slc12a5CTXCerebral cortex100
100
Slc12a5HIPHippocampal region74.71
100
Slc12a5HPFHippocampal formation81.48
100
Slc12a5HYHypothalamus70.31
63.55
Slc12a5LSXLateral septal complex77.68
64.28
Slc12a5MBMidbrain91.78
96.02
Slc12a5MYMedulla65.84
79.95
Slc12a5OLFOlfactory bulb79.21
79.38
Slc12a5PPons67.93
80.21
Slc12a5PALPallidum63.39
64.09
Slc12a5RHPRetrohippocampal region93.1
91.12
Slc12a5sAMYStriatum-like amygdalar nuclei66.69
57.15
Slc12a5STRStriatum87.71
70.92
Slc12a5STRdStriatum dorsal region92.47
75.75
Slc12a5STRvStriatum ventral region89.04
67.19
Slc12a5THThalamus65.28
62.91
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00525743 11 1069 1079 LVLLNMPGPPR Peptide Atlas
S12A5_HUMAN_1069 11 1069 1079 LVLLNMPGPPR PRIDE

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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