AutismKB 2.0

Annotation Detail for SLC7A5


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Basic Information Top
Gene Symbol:SLC7A5 ( 4F2LC,CD98,D16S469E,E16,LAT1,MPE16,hLAT1 )
Gene Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
Band: 16q24.2
Quick LinksEntrez ID:8140; OMIM: 600182; Uniprot ID:LAT1_HUMAN; ENSEMBL ID: ENSG00000103257; HGNC ID: 11063
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 body40 / 70761565
blastocyst13 / 62319208
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile9 / 55556161
adult227 / 1939121117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor17 / 94178180
cervical tumor35 / 343661018
chondrosarcoma4 / 8282348
colorectal tumor82 / 114246717
esophageal tumor1 / 1729057
gastrointestinal tumor38 / 119369318
germ cell tumor31 / 263845117
glioma7 / 10688365
head and neck tumor16 / 136302117
kidney tumor12 / 68959174
leukemia11 / 95842114
liver tumor4 / 9635941
lung tumor22 / 103127213
lymphoma47 / 71755655
non-neoplasia1 / 9725010
normal222 / 336030766
ovarian tumor12 / 76682156
pancreatic tumor50 / 104616477
primitive neuroectodermal tumor of the CNS38 / 125680302
prostate cancer12 / 102680116
retinoblastoma16 / 46356345
skin tumor119 / 124949952
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites17 / 40015424
bladder0 / 297570 
blood14 / 123478113
bone4 / 7165555
bone marrow1 / 4880120
brain54 / 110098949
cervix41 / 48171851
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue61 / 215722282
esophagus1 / 2020949
eye30 / 211054142
heart1 / 8962611
intestine95 / 234472405
kidney12 / 21177756
larynx4 / 24145165
liver11 / 20774352
lung26 / 33697477
lymph45 / 442701016
lymph node9 / 9161098
mammary gland25 / 153271163
mouth2 / 6705229
muscle9 / 10771583
nerve2 / 15768126
ovary19 / 102051186
pancreas52 / 214812242
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta27 / 28082596
prostate19 / 189345100
salivary gland8 / 20155396
skin139 / 210574660
spleen3 / 5395255
stomach10 / 96619103
testis20 / 33044260
thymus0 / 811310 
thyroid2 / 4747342
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201195_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts657.35
Adipocyte12.55
AdrenalCortex9.5
Adrenalgland11
Amygdala167.95
Appendix9.45
AtrioventricularNode8.65
BDCA4+_DentriticCells1285.75
Bonemarrow195.05
BronchialEpithelialCells1965.05
CD105+_Endothelial129.55
CD14+_Monocytes10.85
CD19+_BCells(neg._sel.)36.85
CD33+_Myeloid15.15
CD34+259.45
CD4+_Tcells15.45
CD56+_NKCells16.75
CD71+_EarlyErythroid1804.8
CD8+_Tcells13.8
CardiacMyocytes426.4
Caudatenucleus61.6
Cerebellum71.1
CerebellumPeduncles54.8
CiliaryGanglion6.4
CingulateCortex82.85
Colorectaladenocarcinoma1789.05
DorsalRootGanglion10.25
FetalThyroid9.1
Fetalbrain73.5
Fetalliver278.05
Fetallung31.7
GlobusPallidus38.05
Heart11.75
Hypothalamus102.65
Kidney9.4
Leukemia_chronicMyelogenousK-562902.7
Leukemia_promyelocytic-HL-60259.15
Leukemialymphoblastic(MOLT-4)430.7
Liver23.75
Lung15.65
Lymphnode11.7
Lymphoma_burkitts(Daudi)259.3
Lymphoma_burkitts(Raji)727.9
MedullaOblongata31.25
OccipitalLobe66.05
OlfactoryBulb78.55
Ovary8.8
Pancreas105.55
PancreaticIslet301.65
ParietalLobe45.55
Pituitary13.1
Placenta597.7
Pons17.2
PrefrontalCortex455.65
Prostate18.6
Salivarygland12.05
SkeletalMuscle15.1
Skin10.45
SmoothMuscle155.1
Spinalcord58.35
SubthalamicNucleus38
SuperiorCervicalGanglion10.35
TemporalLobe42.2
Testis346.45
TestisGermCell746.35
TestisIntersitial178.7
TestisLeydigCell109.2
TestisSeminiferousTubule255.9
Thalamus154
Thymus25.45
Thyroid11.9
Tongue88.4
Tonsil20.55
Trachea15.3
TrigeminalGanglion11.75
Uterus8.15
UterusCorpus8.3
WholeBlood14.9
Wholebrain191.45
colon11.3
pineal_day865.76
pineal_night1120.36
retina639.975
small_intestine12.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P3792
  • 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
Amygdala5.58 ± 0.51
Basal Forebrain5.55 ± 0.43
Basal Part of Pons5.68 ± 0.35
Cerebellar Cortex5.54 ± 0.35
Cerebellar Nuclei5.98 ± 0.38
Claustrum6.16 ± 0.44
Epithalamus5.36 ± 0.35
Frontal Lobe5.58 ± 0.42
Globus Pallidus6.45 ± 0.24
Hypothalamus5.54 ± 0.33
Insula5.54 ± 0.36
Limbic Lobe5.57 ± 0.42
Mesencephalon5.73 ± 0.51
Myelencephalon5.73 ± 0.45
Occipital Lobe5.73 ± 0.41
Parietal Lobe5.66 ± 0.43
Pontine Tegmentum5.6 ± 0.46
Striatum5.59 ± 0.49
Subthalamus5.89 ± 0.52
Temporal Lobe5.58 ± 0.42
Thalamus5.8 ± 0.47
White Matter6.51 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc7a5CBCerebellum29.81
29.27
Slc7a5CTXCerebral cortex29.02
20.82
Slc7a5HIPHippocampal region31.21
29.49
Slc7a5HPFHippocampal formation33.7
29.54
Slc7a5HYHypothalamus32.73
28.15
Slc7a5LSXLateral septal complex29.11
24.36
Slc7a5MBMidbrain24.91
20.98
Slc7a5MYMedulla38.38
36.77
Slc7a5OLFOlfactory bulb44.7
35.35
Slc7a5PPons35.37
34.28
Slc7a5PALPallidum20.8
17.58
Slc7a5RHPRetrohippocampal region39.63
30.99
Slc7a5sAMYStriatum-like amygdalar nuclei20.98
15.83
Slc7a5STRStriatum17.16
12.35
Slc7a5STRdStriatum dorsal region13.52
9.3
Slc7a5STRvStriatum ventral region20.13
13.6
Slc7a5THThalamus15.78
12.43
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LAT1_HUMAN_2 7 2 8 AGAGPKR PRIDE
LAT1_HUMAN_31 18 31 48 SADGSAPAGEGEGVTLQR PRIDE
PAp00039440 14 10 23 ALAAPAAEEKEEAR 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