AutismKB 2.0

Annotation Detail for SLC19A1


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Basic Information Top
Gene Symbol:SLC19A1 ( CHMD,FOLT,IFC1,REFC,RFC1 )
Gene Full Name: solute carrier family 19 (folate transporter), member 1
Band: 21q22.3
Quick LinksEntrez ID:6573; OMIM: 600424; Uniprot ID:S19A1_HUMAN; ENSEMBL ID: ENSG00000173638; HGNC ID: 10937
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 body8 / 70761113
blastocyst5 / 6231980
fetus43 / 56401276
neonate3 / 3109796
infant3 / 23620127
juvenile3 / 5555653
adult110 / 193912156
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor9 / 26384534
glioma11 / 106883102
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor8 / 9635983
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal184 / 336030754
ovarian tumor6 / 7668278
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood8 / 12347864
bone3 / 7165541
bone marrow8 / 48801163
brain61 / 110098955
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus1 / 2020949
eye12 / 21105456
heart6 / 8962666
intestine14 / 23447259
kidney8 / 21177737
larynx0 / 241450 
liver10 / 20774348
lung16 / 33697447
lymph1 / 4427022
lymph node10 / 91610109
mammary gland12 / 15327178
mouth4 / 6705259
muscle1 / 1077159
nerve1 / 1576863
ovary7 / 10205168
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta22 / 28082578
prostate15 / 18934579
salivary gland0 / 201550 
skin8 / 21057437
spleen3 / 5395255
stomach2 / 9661920
testis1 / 3304423
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus5 / 23287821
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209776_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.1
Adipocyte4.8
AdrenalCortex5.4
Adrenalgland4.15
Amygdala5
Appendix4.95
AtrioventricularNode3.9
BDCA4+_DentriticCells5.15
Bonemarrow4.9
BronchialEpithelialCells4.75
CD105+_Endothelial4.85
CD14+_Monocytes5.2
CD19+_BCells(neg._sel.)5.2
CD33+_Myeloid6.2
CD34+7.25
CD4+_Tcells5.25
CD56+_NKCells5.75
CD71+_EarlyErythroid4.6
CD8+_Tcells4.65
CardiacMyocytes6.8
Caudatenucleus4.35
Cerebellum3.95
CerebellumPeduncles5.55
CiliaryGanglion3.55
CingulateCortex5
Colorectaladenocarcinoma4.9
DorsalRootGanglion3.85
FetalThyroid4.7
Fetalbrain4.75
Fetalliver4.25
Fetallung3.8
GlobusPallidus3.6
Heart6.6
Hypothalamus5.15
Kidney4
Leukemia_chronicMyelogenousK-5624.35
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.85
Liver6.8
Lung5.3
Lymphnode4.05
Lymphoma_burkitts(Daudi)6.2
Lymphoma_burkitts(Raji)7.1
MedullaOblongata4.4
OccipitalLobe4.35
OlfactoryBulb3.8
Ovary3.35
Pancreas3.95
PancreaticIslet5.15
ParietalLobe5.2
Pituitary5.6
Placenta5
Pons4.6
PrefrontalCortex5.9
Prostate5.6
Salivarygland3.9
SkeletalMuscle5.8
Skin3.9
SmoothMuscle5.45
Spinalcord5.15
SubthalamicNucleus4.4
SuperiorCervicalGanglion5.95
TemporalLobe4.4
Testis4.1
TestisGermCell3.9
TestisIntersitial4.05
TestisLeydigCell4.8
TestisSeminiferousTubule4.1
Thalamus4.95
Thymus3.75
Thyroid5.95
Tongue4.8
Tonsil4.7
Trachea4.05
TrigeminalGanglion5.05
Uterus3.95
UterusCorpus4.4
WholeBlood7.85
Wholebrain4
colon4.85
pineal_day5.96
pineal_night5.9
retina5.85
small_intestine4.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15736_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
Amygdala3.77 ± 0.71
Basal Forebrain3.2 ± 0.44
Basal Part of Pons3.32 ± 0.45
Cerebellar Cortex3.55 ± 0.64
Cerebellar Nuclei3.73 ± 0.5
Claustrum3.84 ± 0.88
Epithalamus3.17 ± 0.77
Frontal Lobe3.63 ± 0.67
Globus Pallidus4.09 ± 0.53
Hypothalamus3.4 ± 0.56
Insula3.67 ± 0.24
Limbic Lobe3.47 ± 0.61
Mesencephalon3.82 ± 0.67
Myelencephalon3.61 ± 0.62
Occipital Lobe3.64 ± 0.5
Parietal Lobe3.6 ± 0.49
Pontine Tegmentum3.62 ± 0.59
Striatum3.95 ± 0.58
Subthalamus3.08 ± 0.63
Temporal Lobe3.5 ± 0.56
Thalamus3.82 ± 0.56
White Matter3.27 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc19a1CBCerebellum92.57
69.85
Slc19a1CTXCerebral cortex77.73
48.82
Slc19a1HIPHippocampal region81.81
62.42
Slc19a1HPFHippocampal formation86.54
65.54
Slc19a1HYHypothalamus49.41
34.13
Slc19a1LSXLateral septal complex49.88
32.48
Slc19a1MBMidbrain52.64
40.16
Slc19a1MYMedulla66.27
60.2
Slc19a1OLFOlfactory bulb92.27
55.75
Slc19a1PPons62.81
56.52
Slc19a1PALPallidum46.19
34.27
Slc19a1RHPRetrohippocampal region92.59
69.02
Slc19a1sAMYStriatum-like amygdalar nuclei62.53
41.92
Slc19a1STRStriatum55.83
35.77
Slc19a1STRdStriatum dorsal region52.24
34.42
Slc19a1STRvStriatum ventral region69.7
38.67
Slc19a1THThalamus54.8
39.91
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00043218 25 304 328 VYNGAADAASTLLGAITSFAAGFVK 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