AutismKB 2.0

Annotation Detail for SLC20A1


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Basic Information Top
Gene Symbol:SLC20A1 ( DKFZp686J2397,FLJ41426,GLVR1,Glvr-1,PIT1,PiT-1 )
Gene Full Name: solute carrier family 20 (phosphate transporter), member 1
Band: 2q14.1
Quick LinksEntrez ID:6574; OMIM: 137570; Uniprot ID:S20A1_HUMAN; ENSEMBL ID: ENSG00000144136; HGNC ID: 10946
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 body7 / 7076198
blastocyst11 / 62319176
fetus32 / 56401256
neonate1 / 3109732
infant2 / 2362084
juvenile5 / 5555689
adult201 / 1939121103
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma15 / 82823181
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor39 / 263845147
glioma12 / 106883112
head and neck tumor21 / 136302154
kidney tumor8 / 68959116
leukemia9 / 9584293
liver tumor13 / 96359134
lung tumor5 / 10312748
lymphoma10 / 71755139
non-neoplasia9 / 9725092
normal233 / 336030769
ovarian tumor6 / 7668278
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer2 / 10268019
retinoblastoma12 / 46356258
skin tumor15 / 124949120
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor40 / 90257443
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder3 / 29757100
blood3 / 12347824
bone11 / 71655153
bone marrow10 / 48801204
brain76 / 110098969
cervix1 / 4817120
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus0 / 202090 
eye20 / 21105494
heart1 / 8962611
intestine19 / 23447281
kidney24 / 211777113
larynx0 / 241450 
liver30 / 207743144
lung13 / 33697438
lymph4 / 4427090
lymph node8 / 9161087
mammary gland6 / 15327139
mouth6 / 6705289
muscle16 / 107715148
nerve1 / 1576863
ovary10 / 10205197
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta35 / 280825124
prostate3 / 18934515
salivary gland8 / 20155396
skin20 / 21057494
spleen1 / 5395218
stomach2 / 9661920
testis48 / 330442145
thymus3 / 8113136
thyroid9 / 47473189
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus46 / 232878197
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201920_at
Cell line Expression level Expression bar
721_B_lymphoblasts367.25
Adipocyte67.75
AdrenalCortex15.05
Adrenalgland8.55
Amygdala57.75
Appendix11.05
AtrioventricularNode9
BDCA4+_DentriticCells963.45
Bonemarrow50.9
BronchialEpithelialCells464.2
CD105+_Endothelial467.45
CD14+_Monocytes236.55
CD19+_BCells(neg._sel.)86
CD33+_Myeloid400.8
CD34+647
CD4+_Tcells456
CD56+_NKCells751.55
CD71+_EarlyErythroid524.15
CD8+_Tcells497.8
CardiacMyocytes390.85
Caudatenucleus14.75
Cerebellum122.7
CerebellumPeduncles47.65
CiliaryGanglion16.65
CingulateCortex67.75
Colorectaladenocarcinoma391.7
DorsalRootGanglion10.15
FetalThyroid13.1
Fetalbrain38.4
Fetalliver91.2
Fetallung68.1
GlobusPallidus10.65
Heart7.1
Hypothalamus97.7
Kidney9
Leukemia_chronicMyelogenousK-562489.95
Leukemia_promyelocytic-HL-60109.85
Leukemialymphoblastic(MOLT-4)178.6
Liver7.05
Lung31.5
Lymphnode164.45
Lymphoma_burkitts(Daudi)371.45
Lymphoma_burkitts(Raji)125.1
MedullaOblongata38.1
OccipitalLobe57.15
OlfactoryBulb53.6
Ovary8.05
Pancreas91.95
PancreaticIslet42.2
ParietalLobe37.4
Pituitary12
Placenta597.55
Pons29.55
PrefrontalCortex190.65
Prostate14.65
Salivarygland19.7
SkeletalMuscle10.3
Skin7.1
SmoothMuscle496.05
Spinalcord48.6
SubthalamicNucleus42.2
SuperiorCervicalGanglion12
TemporalLobe33.25
Testis47.25
TestisGermCell66.7
TestisIntersitial23.9
TestisLeydigCell15.85
TestisSeminiferousTubule41.45
Thalamus91.6
Thymus94.55
Thyroid12.85
Tongue9.15
Tonsil73.4
Trachea64.3
TrigeminalGanglion18.3
Uterus12.5
UterusCorpus22.85
WholeBlood219.3
Wholebrain80.4
colon95.4
pineal_day404.96
pineal_night353.02
retina146.875
small_intestine48.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_578_PI416408490
  • 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
Amygdala5.78 ± 0.65
Basal Forebrain5.61 ± 0.3
Basal Part of Pons6.11 ± 0.24
Cerebellar Cortex6.22 ± 0.32
Cerebellar Nuclei6.6 ± 0.39
Claustrum7.18 ± 0.37
Epithalamus5.12 ± 0.47
Frontal Lobe5.78 ± 0.55
Globus Pallidus5.53 ± 0.38
Hypothalamus5.58 ± 0.42
Insula5.8 ± 0.41
Limbic Lobe5.67 ± 0.57
Mesencephalon5.85 ± 0.62
Myelencephalon5.8 ± 0.55
Occipital Lobe6.3 ± 0.44
Parietal Lobe6.01 ± 0.43
Pontine Tegmentum5.96 ± 0.63
Striatum4.93 ± 0.52
Subthalamus6.46 ± 0.27
Temporal Lobe5.82 ± 0.44
Thalamus6.02 ± 0.43
White Matter5.27 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc20a1CBCerebellum26.52
99.42
Slc20a1CTXCerebral cortex80.97
65.62
Slc20a1HIPHippocampal region42.79
42.69
Slc20a1HPFHippocampal formation55.51
49.89
Slc20a1HYHypothalamus34.62
25.58
Slc20a1LSXLateral septal complex32.79
21.22
Slc20a1MBMidbrain53.03
48.72
Slc20a1MYMedulla61.09
81.95
Slc20a1OLFOlfactory bulb66.77
80.75
Slc20a1PPons58.73
78.52
Slc20a1PALPallidum37.25
36.96
Slc20a1RHPRetrohippocampal region82.82
64.52
Slc20a1sAMYStriatum-like amygdalar nuclei22.5
17.23
Slc20a1STRStriatum22.39
15.79
Slc20a1STRdStriatum dorsal region14.61
10.82
Slc20a1STRvStriatum ventral region37.81
23.2
Slc20a1THThalamus48.96
39.27
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040797 20 296 315 HPVSEVGPATVPLQAVVEER 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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