AutismKB 2.0

Annotation Detail for SLC7A4


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Basic Information Top
Gene Symbol:SLC7A4 ( CAT-4,CAT4,HCAT3,MGC129976,MGC129977,VH )
Gene Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 4
Band: 22q11.21
Quick LinksEntrez ID:6545; OMIM: 603752; Uniprot ID:CTR4_HUMAN; ENSEMBL ID: ENSG00000099960; HGNC ID: 11062
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 
blastocyst1 / 6231916
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult13 / 19391216
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor11 / 26384541
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal21 / 33603076
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain6 / 11009895
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205864_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.1
Adipocyte3.35
AdrenalCortex3.45
Adrenalgland2.85
Amygdala3.65
Appendix3.4
AtrioventricularNode2.5
BDCA4+_DentriticCells3.6
Bonemarrow3.3
BronchialEpithelialCells3.35
CD105+_Endothelial3.4
CD14+_Monocytes3.55
CD19+_BCells(neg._sel.)3.5
CD33+_Myeloid4.3
CD34+4.25
CD4+_Tcells3.65
CD56+_NKCells4
CD71+_EarlyErythroid3.15
CD8+_Tcells3.15
CardiacMyocytes4.25
Caudatenucleus3.05
Cerebellum2.7
CerebellumPeduncles3.8
CiliaryGanglion2.35
CingulateCortex3.45
Colorectaladenocarcinoma3.4
DorsalRootGanglion2.6
FetalThyroid3.3
Fetalbrain3.4
Fetalliver2.9
Fetallung2.8
GlobusPallidus2.55
Heart4.35
Hypothalamus3.7
Kidney2.9
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.7
Liver4.45
Lung3.75
Lymphnode2.9
Lymphoma_burkitts(Daudi)4.3
Lymphoma_burkitts(Raji)4.65
MedullaOblongata3.15
OccipitalLobe3.35
OlfactoryBulb2.7
Ovary2.2
Pancreas2.65
PancreaticIslet3.55
ParietalLobe3.6
Pituitary3.95
Placenta15.15
Pons5.65
PrefrontalCortex4.25
Prostate4
Salivarygland2.85
SkeletalMuscle3.8
Skin2.55
SmoothMuscle3.85
Spinalcord3.6
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.8
TemporalLobe3.1
Testis13.25
TestisGermCell6.75
TestisIntersitial2.95
TestisLeydigCell3.85
TestisSeminiferousTubule3.95
Thalamus3.45
Thymus2.7
Thyroid4.3
Tongue3.35
Tonsil3.3
Trachea2.8
TrigeminalGanglion3.3
Uterus2.8
UterusCorpus3
WholeBlood3.75
Wholebrain3.15
colon3.4
pineal_day4.18
pineal_night4.08
retina4.05
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6141_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
Amygdala4.72 ± 0.56
Basal Forebrain4.68 ± 0.34
Basal Part of Pons4.79 ± 0.42
Cerebellar Cortex5.08 ± 0.29
Cerebellar Nuclei4.55 ± 0.38
Claustrum4.43 ± 0.82
Epithalamus4.57 ± 0.43
Frontal Lobe4.98 ± 0.48
Globus Pallidus3.8 ± 0.22
Hypothalamus5.13 ± 0.88
Insula5.08 ± 0.37
Limbic Lobe4.77 ± 0.57
Mesencephalon4.59 ± 0.57
Myelencephalon4.76 ± 0.6
Occipital Lobe4.26 ± 0.5
Parietal Lobe4.51 ± 0.49
Pontine Tegmentum4.57 ± 0.75
Striatum3.79 ± 0.62
Subthalamus5.12 ± 0.44
Temporal Lobe4.95 ± 0.43
Thalamus4.51 ± 0.62
White Matter3.82 ± 0.85
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc7a4CBCerebellum0
0
Slc7a4CTXCerebral cortex0
0
Slc7a4HIPHippocampal region0
0
Slc7a4HPFHippocampal formation0
0
Slc7a4HYHypothalamus0
0
Slc7a4LSXLateral septal complex0
0
Slc7a4MBMidbrain0
0
Slc7a4MYMedulla0
0
Slc7a4OLFOlfactory bulb0
0
Slc7a4PPons0
0
Slc7a4PALPallidum0
0
Slc7a4RHPRetrohippocampal region0
0
Slc7a4sAMYStriatum-like amygdalar nuclei0
0
Slc7a4STRStriatum0
0
Slc7a4STRdStriatum dorsal region0
0
Slc7a4STRvStriatum ventral region0
0
Slc7a4THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CTR4_HUMAN_143 8 143 150 SMFSHSIR PRIDE

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