AutismKB 2.0

Annotation Detail for SLC7A2


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Basic Information Top
Gene Symbol:SLC7A2 ( ATRC2,CAT2,HCAT2 )
Gene Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
Band: 8p22
Quick LinksEntrez ID:6542; OMIM: 601872; Uniprot ID:CTR2_HUMAN; ENSEMBL ID: ENSG00000003989; HGNC ID: 11060
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 body2 / 7076128
blastocyst1 / 6231916
fetus47 / 56401283
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult158 / 193912181
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) tumor2 / 9417821
cervical tumor10 / 34366290
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor9 / 13630266
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal188 / 336030755
ovarian tumor1 / 7668213
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain15 / 110098913
cervix10 / 48171207
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye11 / 21105452
heart6 / 8962666
intestine4 / 23447217
kidney2 / 2117779
larynx2 / 2414582
liver25 / 207743120
lung18 / 33697453
lymph0 / 442700 
lymph node0 / 916100 
mammary gland13 / 15327184
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas34 / 214812158
parathyroid45 / 205392190
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta35 / 280825124
prostate5 / 18934526
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid7 / 47473147
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207626_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.15
Adipocyte3.3
AdrenalCortex3.45
Adrenalgland2.8
Amygdala3.55
Appendix3.4
AtrioventricularNode2.6
BDCA4+_DentriticCells3.7
Bonemarrow3.35
BronchialEpithelialCells3.3
CD105+_Endothelial3.4
CD14+_Monocytes3.6
CD19+_BCells(neg._sel.)3.6
CD33+_Myeloid4.3
CD34+4.25
CD4+_Tcells3.65
CD56+_NKCells4.05
CD71+_EarlyErythroid3.1
CD8+_Tcells3.25
CardiacMyocytes4.5
Caudatenucleus2.95
Cerebellum2.7
CerebellumPeduncles3.75
CiliaryGanglion2.35
CingulateCortex3.4
Colorectaladenocarcinoma3.35
DorsalRootGanglion2.6
FetalThyroid3.25
Fetalbrain3.3
Fetalliver2.9
Fetallung2.8
GlobusPallidus2.45
Heart4.45
Hypothalamus3.6
Kidney2.65
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-602.9
Leukemialymphoblastic(MOLT-4)2.65
Liver4.4
Lung3.7
Lymphnode2.9
Lymphoma_burkitts(Daudi)4.25
Lymphoma_burkitts(Raji)4.65
MedullaOblongata3.05
OccipitalLobe3
OlfactoryBulb2.65
Ovary2.2
Pancreas2.65
PancreaticIslet3.55
ParietalLobe3.55
Pituitary3.9
Placenta4.2
Pons3.15
PrefrontalCortex4.15
Prostate3.9
Salivarygland2.7
SkeletalMuscle4
Skin2.55
SmoothMuscle3.8
Spinalcord3.55
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.9
TemporalLobe3
Testis2.9
TestisGermCell2.8
TestisIntersitial2.85
TestisLeydigCell3.3
TestisSeminiferousTubule2.9
Thalamus3.35
Thymus2.65
Thyroid4.25
Tongue3.25
Tonsil3.25
Trachea2.8
TrigeminalGanglion3.45
Uterus2.75
UterusCorpus3.05
WholeBlood3.7
Wholebrain2.85
colon3.35
pineal_day4.2
pineal_night4.1
retina4.05
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10921_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
Amygdala2.9 ± 0.89
Basal Forebrain2.11 ± 0.27
Basal Part of Pons2.22 ± 0.46
Cerebellar Cortex2.56 ± 0.8
Cerebellar Nuclei2.63 ± 0.74
Claustrum3 ± 0.85
Epithalamus2.57 ± 0.91
Frontal Lobe2.49 ± 0.76
Globus Pallidus2.67 ± 0.33
Hypothalamus2.24 ± 0.69
Insula2.19 ± 0.57
Limbic Lobe2.67 ± 0.88
Mesencephalon2.67 ± 0.72
Myelencephalon2.61 ± 0.75
Occipital Lobe2.79 ± 0.72
Parietal Lobe2.59 ± 0.66
Pontine Tegmentum2.68 ± 0.69
Striatum2.59 ± 0.81
Subthalamus2.6 ± 0.67
Temporal Lobe2.44 ± 0.73
Thalamus2.86 ± 0.8
White Matter2.9 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc7a2CBCerebellum19.13
23.86
Slc7a2CTXCerebral cortex37.77
28.05
Slc7a2HIPHippocampal region16.21
17.72
Slc7a2HPFHippocampal formation19.95
18.75
Slc7a2HYHypothalamus12.02
9.46
Slc7a2LSXLateral septal complex3.43
2.08
Slc7a2MBMidbrain17.85
17.19
Slc7a2MYMedulla27.79
31.65
Slc7a2OLFOlfactory bulb39.43
35.16
Slc7a2PPons32.15
34.69
Slc7a2PALPallidum21.36
19.01
Slc7a2RHPRetrohippocampal region27.19
20.71
Slc7a2sAMYStriatum-like amygdalar nuclei16.02
12.14
Slc7a2STRStriatum24.66
17.72
Slc7a2STRdStriatum dorsal region23.5
16.67
Slc7a2STRvStriatum ventral region39
27.09
Slc7a2THThalamus20.12
16.28
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00504387 20 613 632 DENNEEDAYPDNVHAAAEEK 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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