AutismKB 2.0

Annotation Detail for SLC29A1


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Basic Information Top
Gene Symbol:SLC29A1 ( ENT1,MGC1465,MGC3778 )
Gene Full Name: solute carrier family 29 (nucleoside transporters), member 1
Band: 6p21.1
Quick LinksEntrez ID:2030; OMIM: 602193; Uniprot ID:S29A1_HUMAN; ENSEMBL ID: ENSG00000112759; HGNC ID: 11003
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 
blastocyst5 / 6231980
fetus47 / 56401283
neonate11 / 31097353
infant4 / 23620169
juvenile24 / 55556431
adult199 / 1939121102
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor13 / 94178138
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor10 / 11424687
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor46 / 263845174
glioma12 / 106883112
head and neck tumor7 / 13630251
kidney tumor10 / 68959145
leukemia9 / 9584293
liver tumor20 / 96359207
lung tumor4 / 10312738
lymphoma10 / 71755139
non-neoplasia12 / 97250123
normal343 / 3360307102
ovarian tumor9 / 76682117
pancreatic tumor18 / 104616172
primitive neuroectodermal tumor of the CNS66 / 125680525
prostate cancer8 / 10268077
retinoblastoma10 / 46356215
skin tumor8 / 12494964
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland21 / 33197632
ascites2 / 4001549
bladder0 / 297570 
blood10 / 12347880
bone8 / 71655111
bone marrow4 / 4880181
brain131 / 1100989118
cervix7 / 48171145
connective tissue23 / 149255154
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye14 / 21105466
heart22 / 89626245
intestine26 / 234472110
kidney20 / 21177794
larynx2 / 2414582
liver23 / 207743110
lung25 / 33697474
lymph6 / 44270135
lymph node2 / 9161021
mammary gland19 / 153271123
mouth3 / 6705244
muscle12 / 107715111
nerve1 / 1576863
ovary15 / 102051146
pancreas21 / 21481297
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta58 / 280825206
prostate10 / 18934552
salivary gland0 / 201550 
skin27 / 210574128
spleen6 / 53952111
stomach6 / 9661962
testis31 / 33044293
thymus40 / 81131493
thyroid4 / 4747384
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord9 / 13680657
uterus24 / 232878103
vascular17 / 51780328
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201801_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts54.85
Adipocyte3.2
AdrenalCortex3.2
Adrenalgland2.7
Amygdala3.35
Appendix3.7
AtrioventricularNode2.35
BDCA4+_DentriticCells4.4
Bonemarrow3.1
BronchialEpithelialCells3.15
CD105+_Endothelial34.95
CD14+_Monocytes3.4
CD19+_BCells(neg._sel.)3.4
CD33+_Myeloid5.8
CD34+9.65
CD4+_Tcells3.45
CD56+_NKCells3.85
CD71+_EarlyErythroid96.85
CD8+_Tcells3.1
CardiacMyocytes3.95
Caudatenucleus2.8
Cerebellum2.55
CerebellumPeduncles3.5
CiliaryGanglion2.25
CingulateCortex3.2
Colorectaladenocarcinoma3.3
DorsalRootGanglion2.4
FetalThyroid3.05
Fetalbrain3.1
Fetalliver6
Fetallung2.65
GlobusPallidus2.3
Heart48.3
Hypothalamus3.4
Kidney2.5
Leukemia_chronicMyelogenousK-5626.5
Leukemia_promyelocytic-HL-6043.05
Leukemialymphoblastic(MOLT-4)6.15
Liver4.1
Lung3.5
Lymphnode2.75
Lymphoma_burkitts(Daudi)4.05
Lymphoma_burkitts(Raji)41.65
MedullaOblongata2.9
OccipitalLobe2.85
OlfactoryBulb2.5
Ovary2.1
Pancreas2.5
PancreaticIslet4.05
ParietalLobe3.3
Pituitary3.7
Placenta5.1
Pons3
PrefrontalCortex4
Prostate3.75
Salivarygland2.5
SkeletalMuscle3.55
Skin2.35
SmoothMuscle3.6
Spinalcord3.35
SubthalamicNucleus2.85
SuperiorCervicalGanglion3.5
TemporalLobe2.9
Testis2.7
TestisGermCell2.7
TestisIntersitial2.65
TestisLeydigCell3.1
TestisSeminiferousTubule2.75
Thalamus3.15
Thymus12.5
Thyroid12.25
Tongue3
Tonsil3.05
Trachea2.65
TrigeminalGanglion3.05
Uterus2.65
UterusCorpus2.75
WholeBlood3.5
Wholebrain3.5
colon7
pineal_day3.98
pineal_night3.9
retina8.025
small_intestine3.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P133694
  • 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
Amygdala6.22 ± 0.22
Basal Forebrain6.84 ± 0.23
Basal Part of Pons7.26 ± 0.27
Cerebellar Cortex6.74 ± 0.29
Cerebellar Nuclei7.4 ± 0.28
Claustrum5.76 ± 0.45
Epithalamus6.33 ± 0.35
Frontal Lobe6.9 ± 0.45
Globus Pallidus6.02 ± 0.24
Hypothalamus7.08 ± 0.25
Insula6.9 ± 0.19
Limbic Lobe6.53 ± 0.49
Mesencephalon6.89 ± 0.43
Myelencephalon6.73 ± 0.5
Occipital Lobe6.84 ± 0.4
Parietal Lobe6.85 ± 0.45
Pontine Tegmentum6.69 ± 0.41
Striatum6.67 ± 0.44
Subthalamus7.33 ± 0.08
Temporal Lobe6.8 ± 0.39
Thalamus6.95 ± 0.34
White Matter4.81 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc29a1CBCerebellum5.94
4.36
Slc29a1CTXCerebral cortex4.07
2.83
Slc29a1HIPHippocampal region15.53
7.25
Slc29a1HPFHippocampal formation12.22
6.27
Slc29a1HYHypothalamus7.21
5.21
Slc29a1LSXLateral septal complex2.87
1.49
Slc29a1MBMidbrain7.56
5.72
Slc29a1MYMedulla9.6
6.53
Slc29a1OLFOlfactory bulb12.76
7.68
Slc29a1PPons9.35
6.17
Slc29a1PALPallidum5.61
3.85
Slc29a1RHPRetrohippocampal region6.4
4.83
Slc29a1sAMYStriatum-like amygdalar nuclei5.58
3.55
Slc29a1STRStriatum3.5
1.86
Slc29a1STRdStriatum dorsal region2.5
1.34
Slc29a1STRvStriatum ventral region6.76
3.09
Slc29a1THThalamus47.31
38.78
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000362 23 340 362 AGKEESGVSVSNSQPTNESHSIK 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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