AutismKB 2.0

Annotation Detail for SLC7A1


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Basic Information Top
Gene Symbol:SLC7A1 ( ATRC1,CAT-1,ERR,HCAT1,REC1L )
Gene Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
Band: 13q12.3
Quick LinksEntrez ID:6541; OMIM: 104615; Uniprot ID:CTR1_HUMAN; ENSEMBL ID: ENSG00000139514; HGNC ID: 11057
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 body14 / 70761197
blastocyst3 / 6231948
fetus30 / 56401253
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult105 / 193912154
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor6 / 34366174
chondrosarcoma6 / 8282372
colorectal tumor19 / 114246166
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor10 / 26384537
glioma15 / 106883140
head and neck tumor7 / 13630251
kidney tumor5 / 6895972
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor6 / 10312758
lymphoma5 / 7175569
non-neoplasia2 / 9725020
normal187 / 336030755
ovarian tumor3 / 7668239
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer4 / 10268038
retinoblastoma4 / 4635686
skin tumor8 / 12494964
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone7 / 7165597
bone marrow3 / 4880161
brain74 / 110098967
cervix6 / 48171124
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus0 / 202090 
eye14 / 21105466
heart2 / 8962622
intestine33 / 234472140
kidney11 / 21177751
larynx0 / 241450 
liver7 / 20774333
lung20 / 33697459
lymph4 / 4427090
lymph node9 / 9161098
mammary gland14 / 15327191
mouth5 / 6705274
muscle9 / 10771583
nerve4 / 15768253
ovary4 / 10205139
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta15 / 28082553
prostate5 / 18934526
salivary gland0 / 201550 
skin16 / 21057475
spleen2 / 5395237
stomach7 / 9661972
testis14 / 33044242
thymus4 / 8113149
thyroid2 / 4747342
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus18 / 23287877
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212295_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1204.15
Adipocyte73.7
AdrenalCortex115.65
Adrenalgland62.5
Amygdala323.7
Appendix76
AtrioventricularNode56.9
BDCA4+_DentriticCells328.05
Bonemarrow195.1
BronchialEpithelialCells348.25
CD105+_Endothelial1439.9
CD14+_Monocytes60.4
CD19+_BCells(neg._sel.)136.65
CD33+_Myeloid235.55
CD34+1079.7
CD4+_Tcells95.9
CD56+_NKCells159.45
CD71+_EarlyErythroid1494.35
CD8+_Tcells112.95
CardiacMyocytes99.2
Caudatenucleus87.95
Cerebellum189.5
CerebellumPeduncles139.05
CiliaryGanglion56.95
CingulateCortex230.15
Colorectaladenocarcinoma1320.6
DorsalRootGanglion56.25
FetalThyroid69.7
Fetalbrain209.1
Fetalliver122.3
Fetallung64.1
GlobusPallidus92.35
Heart78.6
Hypothalamus389.75
Kidney38.4
Leukemia_chronicMyelogenousK-562151.3
Leukemia_promyelocytic-HL-60390.05
Leukemialymphoblastic(MOLT-4)446.8
Liver83.2
Lung74.9
Lymphnode52.6
Lymphoma_burkitts(Daudi)663.25
Lymphoma_burkitts(Raji)338.8
MedullaOblongata145.05
OccipitalLobe149
OlfactoryBulb136.55
Ovary59
Pancreas878.6
PancreaticIslet248.75
ParietalLobe102.75
Pituitary85.75
Placenta367.35
Pons74.55
PrefrontalCortex553.85
Prostate202.7
Salivarygland216.75
SkeletalMuscle55.2
Skin63.8
SmoothMuscle394.15
Spinalcord276.8
SubthalamicNucleus114
SuperiorCervicalGanglion94.9
TemporalLobe91.5
Testis181.2
TestisGermCell154.6
TestisIntersitial67.4
TestisLeydigCell77.65
TestisSeminiferousTubule83.25
Thalamus102.8
Thymus96.15
Thyroid68.4
Tongue319.6
Tonsil97.05
Trachea89.95
TrigeminalGanglion86.7
Uterus72.4
UterusCorpus54.9
WholeBlood55.45
Wholebrain338.15
colon240.6
pineal_day376.26
pineal_night417.32
retina180.925
small_intestine566.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P117242
  • 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
Amygdala2.27 ± 0.98
Basal Forebrain1.66 ± 0.24
Basal Part of Pons1.61 ± 0.46
Cerebellar Cortex1.94 ± 0.85
Cerebellar Nuclei2.05 ± 0.89
Claustrum2.31 ± 0.68
Epithalamus1.4 ± 0.74
Frontal Lobe1.79 ± 0.69
Globus Pallidus1.87 ± 0.39
Hypothalamus1.7 ± 0.52
Insula1.4 ± 0.56
Limbic Lobe1.9 ± 0.61
Mesencephalon1.93 ± 0.66
Myelencephalon1.85 ± 0.71
Occipital Lobe1.93 ± 0.66
Parietal Lobe1.76 ± 0.7
Pontine Tegmentum1.78 ± 0.77
Striatum1.6 ± 0.55
Subthalamus1.92 ± 0.84
Temporal Lobe1.68 ± 0.77
Thalamus1.71 ± 0.67
White Matter2.09 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc7a1CBCerebellum19.8
23.35
Slc7a1CTXCerebral cortex35.3
27.07
Slc7a1HIPHippocampal region20.47
23.52
Slc7a1HPFHippocampal formation20
19.78
Slc7a1HYHypothalamus12.78
11.74
Slc7a1LSXLateral septal complex7.95
5.5
Slc7a1MBMidbrain8.74
9.67
Slc7a1MYMedulla16.66
22.65
Slc7a1OLFOlfactory bulb25.35
19.76
Slc7a1PPons14.41
18.32
Slc7a1PALPallidum15.31
15.37
Slc7a1RHPRetrohippocampal region19.5
14.97
Slc7a1sAMYStriatum-like amygdalar nuclei12.15
9.68
Slc7a1STRStriatum11.29
8.68
Slc7a1STRdStriatum dorsal region10.19
8.13
Slc7a1STRvStriatum ventral region16.1
10.99
Slc7a1THThalamus11.84
10.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CTR1_HUMAN_5 11 5 15 VLLNIGQQMLR PRIDE
PAp00039589 19 131 149 AWSATFDELIGRPIGEFSR 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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