AutismKB 2.0

Annotation Detail for SPR


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Basic Information Top
Gene Symbol:SPR ( SDR38C1 )
Gene Full Name: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Band: 2p13.2
Quick LinksEntrez ID:6697; OMIM: 182125; Uniprot ID:SPRE_HUMAN; ENSEMBL ID: ENSG00000116096; HGNC ID: 11257
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 body1 / 7076114
blastocyst1 / 6231916
fetus10 / 56401217
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult61 / 193912131
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) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor1 / 2638453
glioma12 / 106883112
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal60 / 336030717
ovarian tumor7 / 7668291
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer7 / 10268068
retinoblastoma4 / 4635686
skin tumor29 / 124949232
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone7 / 7165597
bone marrow3 / 4880161
brain24 / 110098921
cervix3 / 4817162
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye13 / 21105461
heart5 / 8962655
intestine15 / 23447263
kidney8 / 21177737
larynx0 / 241450 
liver9 / 20774343
lung15 / 33697444
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary7 / 10205168
pancreas7 / 21481232
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate14 / 18934573
salivary gland2 / 2015599
skin31 / 210574147
spleen1 / 5395218
stomach2 / 9661920
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203458_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.75
Adipocyte21.05
AdrenalCortex10.7
Adrenalgland28.05
Amygdala9.35
Appendix8.65
AtrioventricularNode6.2
BDCA4+_DentriticCells6.6
Bonemarrow8.3
BronchialEpithelialCells8.35
CD105+_Endothelial8.5
CD14+_Monocytes8.95
CD19+_BCells(neg._sel.)9
CD33+_Myeloid7.8
CD34+7.7
CD4+_Tcells7.35
CD56+_NKCells8.4
CD71+_EarlyErythroid7.9
CD8+_Tcells6.4
CardiacMyocytes10.55
Caudatenucleus9.45
Cerebellum6.85
CerebellumPeduncles9.6
CiliaryGanglion5.8
CingulateCortex7.95
Colorectaladenocarcinoma56.05
DorsalRootGanglion6.35
FetalThyroid13.4
Fetalbrain8.35
Fetalliver7.45
Fetallung7.35
GlobusPallidus6.1
Heart47.3
Hypothalamus9.45
Kidney26.8
Leukemia_chronicMyelogenousK-56214.05
Leukemia_promyelocytic-HL-606.5
Leukemialymphoblastic(MOLT-4)6.9
Liver269
Lung103.95
Lymphnode8.4
Lymphoma_burkitts(Daudi)17.2
Lymphoma_burkitts(Raji)10.65
MedullaOblongata7.8
OccipitalLobe7.55
OlfactoryBulb6.7
Ovary6.25
Pancreas58.25
PancreaticIslet23.6
ParietalLobe9.35
Pituitary10.25
Placenta8.75
Pons8.45
PrefrontalCortex10.75
Prostate68.95
Salivarygland6.75
SkeletalMuscle12.95
Skin6.3
SmoothMuscle19.05
Spinalcord7.25
SubthalamicNucleus7.55
SuperiorCervicalGanglion9.3
TemporalLobe7.7
Testis14.45
TestisGermCell7.3
TestisIntersitial5.95
TestisLeydigCell11.7
TestisSeminiferousTubule7.4
Thalamus8.6
Thymus6.85
Thyroid41.2
Tongue8.25
Tonsil8.2
Trachea8.5
TrigeminalGanglion8.85
Uterus10.7
UterusCorpus10.9
WholeBlood9.3
Wholebrain9.6
colon25.2
pineal_day9.5
pineal_night8.84
retina10.4
small_intestine14.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16492_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
Amygdala3.47 ± 0.67
Basal Forebrain3.14 ± 0.63
Basal Part of Pons3.5 ± 0.64
Cerebellar Cortex2.94 ± 0.58
Cerebellar Nuclei3.41 ± 0.48
Claustrum3.49 ± 0.62
Epithalamus3.96 ± 0.56
Frontal Lobe3.55 ± 0.63
Globus Pallidus3.74 ± 0.48
Hypothalamus3.72 ± 0.75
Insula3.27 ± 0.64
Limbic Lobe3.46 ± 0.56
Mesencephalon3.48 ± 0.62
Myelencephalon3.41 ± 0.61
Occipital Lobe3.23 ± 0.65
Parietal Lobe3.46 ± 0.61
Pontine Tegmentum3.43 ± 0.66
Striatum3.34 ± 0.78
Subthalamus3.31 ± 0.39
Temporal Lobe3.48 ± 0.57
Thalamus3.23 ± 0.6
White Matter3.01 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SprCBCerebellum13.54
17.53
SprCTXCerebral cortex8.2
6.44
SprHIPHippocampal region7.48
9.58
SprHPFHippocampal formation7.87
8.15
SprHYHypothalamus5.78
4.59
SprLSXLateral septal complex1.36
1.28
SprMBMidbrain5.33
5.4
SprMYMedulla16.15
19.43
SprOLFOlfactory bulb8.32
5.88
SprPPons12.29
14.28
SprPALPallidum6.97
6.3
SprRHPRetrohippocampal region8.64
6.12
SprsAMYStriatum-like amygdalar nuclei3.46
2.45
SprSTRStriatum2.39
1.95
SprSTRdStriatum dorsal region2.13
1.9
SprSTRvStriatum ventral region2.91
1.84
SprTHThalamus5.28
4.93
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00065233 15 178 192 DMLFQVLALEEPNVR Peptide Atlas
SPRE_HUMAN_0 0 0 0 LLLINNAGSLGDVSK PRIDE
SPRE_HUMAN_177 15 177 191 DMLFQVLALEEPNVR PRIDE
SPRE_HUMAN_178 15 178 192 DMLFQVLALEEPNVR PRIDE
SPRE_HUMAN_193 18 193 210 VLNYAPGPLDTDMQQLAR PRIDE
SPRE_HUMAN_21 21 21 41 TLAPLLASLLSPGSVLVLSAR PRIDE
SPRE_HUMAN_49 10 49 58 QLEAELGAER PRIDE
SPRE_HUMAN_62 22 62 83 VVRVPADLGAEAGLQQLLGALR PRIDE
SPRE_HUMAN_62 28 62 89 VVRVPADLGAEAGLQQLLGALRELPRPK PRIDE
SPRE_HUMAN_65 19 65 83 VPADLGAEAGLQQLLGALR PRIDE
SPRE_HUMAN_66 19 66 84 VPADLGAEAGLQQLLGALR PRIDE
SPRE_HUMAN_89 6 89 94 PKGLQR PRIDE
SPRE_HUMAN_94 15 94 108 LLLINNAGSLGDVSK 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


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