AutismKB 2.0

Annotation Detail for SLC2A4RG


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Basic Information Top
Gene Symbol:SLC2A4RG ( GEF,HDBP1,Si-1-2,Si-1-2-19 )
Gene Full Name: SLC2A4 regulator
Band: 20q13.33
Quick LinksEntrez ID:56731; OMIM: 609493; Uniprot ID:S2A4R_HUMAN; ENSEMBL ID: ENSG00000125520; HGNC ID: 15930
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 body3 / 7076142
blastocyst0 / 623190 
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult94 / 193912148
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor5 / 26384518
glioma14 / 106883130
head and neck tumor8 / 13630258
kidney tumor14 / 68959203
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor13 / 103127126
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal162 / 336030748
ovarian tumor11 / 76682143
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone11 / 71655153
bone marrow0 / 488010 
brain22 / 110098919
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye16 / 21105475
heart6 / 8962666
intestine16 / 23447268
kidney29 / 211777136
larynx0 / 241450 
liver8 / 20774338
lung23 / 33697468
lymph1 / 4427022
lymph node10 / 91610109
mammary gland7 / 15327145
mouth1 / 6705214
muscle6 / 10771555
nerve0 / 157680 
ovary11 / 102051107
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta17 / 28082560
prostate25 / 189345132
salivary gland3 / 20155148
skin11 / 21057452
spleen1 / 5395218
stomach4 / 9661941
testis3 / 3304429
thymus5 / 8113161
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218494_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts43.2
Adipocyte27.15
AdrenalCortex16.45
Adrenalgland15.9
Amygdala11.7
Appendix13.35
AtrioventricularNode7.8
BDCA4+_DentriticCells19.1
Bonemarrow15.25
BronchialEpithelialCells25.5
CD105+_Endothelial61.8
CD14+_Monocytes16.75
CD19+_BCells(neg._sel.)14.5
CD33+_Myeloid14.35
CD34+28.85
CD4+_Tcells22.1
CD56+_NKCells27.7
CD71+_EarlyErythroid98.1
CD8+_Tcells23.6
CardiacMyocytes23.65
Caudatenucleus10.4
Cerebellum8.95
CerebellumPeduncles14.05
CiliaryGanglion8.95
CingulateCortex11
Colorectaladenocarcinoma49.4
DorsalRootGanglion9.95
FetalThyroid15.15
Fetalbrain9.2
Fetalliver27.4
Fetallung12.6
GlobusPallidus9.35
Heart50.1
Hypothalamus14.85
Kidney74.25
Leukemia_chronicMyelogenousK-56210.8
Leukemia_promyelocytic-HL-6011.85
Leukemialymphoblastic(MOLT-4)16.3
Liver132.45
Lung30.8
Lymphnode11.75
Lymphoma_burkitts(Daudi)13.35
Lymphoma_burkitts(Raji)16.95
MedullaOblongata11.95
OccipitalLobe11.1
OlfactoryBulb10.35
Ovary11.55
Pancreas11.6
PancreaticIslet14.3
ParietalLobe12.3
Pituitary15.75
Placenta14.2
Pons10
PrefrontalCortex18.2
Prostate60.4
Salivarygland9.5
SkeletalMuscle14.95
Skin9.15
SmoothMuscle19.2
Spinalcord14.4
SubthalamicNucleus8.9
SuperiorCervicalGanglion14.85
TemporalLobe10.85
Testis14
TestisGermCell14.75
TestisIntersitial11.3
TestisLeydigCell13.15
TestisSeminiferousTubule20.15
Thalamus10.3
Thymus16.85
Thyroid116.7
Tongue16.65
Tonsil14.9
Trachea11.85
TrigeminalGanglion11.65
Uterus17.2
UterusCorpus11.8
WholeBlood15.6
Wholebrain9
colon13.65
pineal_day13.88
pineal_night14.54
retina16.775
small_intestine12.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P365442
  • 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
Amygdala5.73 ± 0.68
Basal Forebrain5.63 ± 0.37
Basal Part of Pons5.38 ± 0.34
Cerebellar Cortex5.25 ± 0.52
Cerebellar Nuclei5.16 ± 0.63
Claustrum5.71 ± 0.73
Epithalamus4.74 ± 0.66
Frontal Lobe5.15 ± 0.56
Globus Pallidus5.99 ± 0.53
Hypothalamus5.43 ± 0.74
Insula5.21 ± 0.58
Limbic Lobe5.39 ± 0.65
Mesencephalon5.39 ± 0.49
Myelencephalon5.32 ± 0.65
Occipital Lobe5.37 ± 0.7
Parietal Lobe5.29 ± 0.67
Pontine Tegmentum5.26 ± 0.87
Striatum5.62 ± 0.65
Subthalamus5.36 ± 0.25
Temporal Lobe5.18 ± 0.67
Thalamus5.2 ± 0.55
White Matter5.51 ± 0.56
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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