AutismKB 2.0

Annotation Detail for SLC7A8


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Basic Information Top
Gene Symbol:SLC7A8 ( LAT2,LPI-PC1 )
Gene Full Name: solute carrier family 7 (amino acid transporter, L-type), member 8
Band: 14q11.2
Quick LinksEntrez ID:23428; OMIM: 604235; Uniprot ID:LAT2_HUMAN; ENSEMBL ID: ENSG00000092068; HGNC ID: 11066
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 
blastocyst10 / 62319160
fetus17 / 56401230
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult169 / 193912187
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma8 / 10688374
head and neck tumor38 / 136302278
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal219 / 336030765
ovarian tumor6 / 7668278
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor16 / 124949128
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder2 / 2975767
blood1 / 1234788
bone1 / 7165513
bone marrow2 / 4880140
brain41 / 110098937
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus2 / 2020998
eye19 / 21105490
heart0 / 896260 
intestine4 / 23447217
kidney13 / 21177761
larynx18 / 24145745
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland13 / 15327184
mouth15 / 67052223
muscle2 / 10771518
nerve0 / 157680 
ovary10 / 10205197
pancreas27 / 214812125
parathyroid9 / 20539438
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta49 / 280825174
prostate12 / 18934563
salivary gland0 / 201550 
skin37 / 210574175
spleen1 / 5395218
stomach1 / 9661910
testis21 / 33044263
thymus2 / 8113124
thyroid6 / 47473126
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217248_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.4
Adipocyte3.5
AdrenalCortex3.7
Adrenalgland2.95
Amygdala3.7
Appendix3.55
AtrioventricularNode2.65
BDCA4+_DentriticCells3.9
Bonemarrow3.45
BronchialEpithelialCells3.45
CD105+_Endothelial3.55
CD14+_Monocytes3.85
CD19+_BCells(neg._sel.)3.8
CD33+_Myeloid4.5
CD34+4.5
CD4+_Tcells3.8
CD56+_NKCells4.15
CD71+_EarlyErythroid3.35
CD8+_Tcells3.4
CardiacMyocytes4.5
Caudatenucleus3.15
Cerebellum2.8
CerebellumPeduncles3.95
CiliaryGanglion2.5
CingulateCortex3.6
Colorectaladenocarcinoma3.55
DorsalRootGanglion2.65
FetalThyroid3.4
Fetalbrain3.5
Fetalliver3.05
Fetallung2.95
GlobusPallidus2.6
Heart4.45
Hypothalamus3.8
Kidney6.45
Leukemia_chronicMyelogenousK-5623.15
Leukemia_promyelocytic-HL-603.1
Leukemialymphoblastic(MOLT-4)2.8
Liver4.65
Lung3.85
Lymphnode3.05
Lymphoma_burkitts(Daudi)4.5
Lymphoma_burkitts(Raji)4.9
MedullaOblongata3.25
OccipitalLobe3.15
OlfactoryBulb2.75
Ovary3.45
Pancreas2.8
PancreaticIslet4
ParietalLobe3.65
Pituitary4.1
Placenta3.7
Pons3.35
PrefrontalCortex4.4
Prostate4.1
Salivarygland2.8
SkeletalMuscle4.05
Skin2.75
SmoothMuscle4
Spinalcord3.75
SubthalamicNucleus3.2
SuperiorCervicalGanglion4
TemporalLobe3.2
Testis3
TestisGermCell2.9
TestisIntersitial2.95
TestisLeydigCell3.5
TestisSeminiferousTubule3
Thalamus3.55
Thymus2.8
Thyroid4.45
Tongue3.5
Tonsil3.4
Trachea2.9
TrigeminalGanglion3.55
Uterus2.9
UterusCorpus3.15
WholeBlood3.85
Wholebrain3
colon3.55
pineal_day4.42
pineal_night4.32
retina4.275
small_intestine3.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4772_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
Amygdala4.02 ± 0.85
Basal Forebrain3.71 ± 0.43
Basal Part of Pons3.96 ± 0.52
Cerebellar Cortex3.82 ± 0.57
Cerebellar Nuclei3.82 ± 0.69
Claustrum4.28 ± 0.65
Epithalamus3.55 ± 0.97
Frontal Lobe3.93 ± 0.65
Globus Pallidus3.99 ± 0.48
Hypothalamus3.88 ± 0.38
Insula3.89 ± 0.54
Limbic Lobe3.73 ± 0.53
Mesencephalon4.05 ± 0.6
Myelencephalon3.99 ± 0.6
Occipital Lobe4.27 ± 0.51
Parietal Lobe4.05 ± 0.55
Pontine Tegmentum3.95 ± 0.65
Striatum4.23 ± 0.58
Subthalamus3.95 ± 1
Temporal Lobe3.85 ± 0.53
Thalamus4.31 ± 0.48
White Matter2.08 ± 0.87
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc7a8CBCerebellum100
100
Slc7a8CTXCerebral cortex100
100
Slc7a8HIPHippocampal region87.43
100
Slc7a8HPFHippocampal formation98.02
100
Slc7a8HYHypothalamus37.82
29.84
Slc7a8LSXLateral septal complex59.29
42.83
Slc7a8MBMidbrain44.58
40.5
Slc7a8MYMedulla64.75
69.84
Slc7a8OLFOlfactory bulb97.85
96.77
Slc7a8PPons51.24
53.27
Slc7a8PALPallidum34.1
28.91
Slc7a8RHPRetrohippocampal region100
100
Slc7a8sAMYStriatum-like amygdalar nuclei62.62
46.68
Slc7a8STRStriatum76.59
56.81
Slc7a8STRdStriatum dorsal region79.43
59.56
Slc7a8STRvStriatum ventral region85.78
60.59
Slc7a8THThalamus99.56
96.77
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01048961 24 14 37 KHPGGGESDASPEAGSGGGGVALK 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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