AutismKB 2.0

Annotation Detail for GNPDA1


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Basic Information Top
Gene Symbol:GNPDA1 ( GNP1,GNPDA,GNPI,GPI,HLN,KIAA0060 )
Gene Full Name: glucosamine-6-phosphate deaminase 1
Band: 5q31.3
Quick LinksEntrez ID:10007; OMIM: 601798; Uniprot ID:GNPI1_HUMAN; ENSEMBL ID: ENSG00000113552; HGNC ID: 4417
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 body4 / 7076156
blastocyst6 / 6231996
fetus24 / 56401242
neonate6 / 31097192
infant3 / 23620127
juvenile8 / 55556143
adult194 / 1939121100
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma4 / 17475228
breast (mammary gland) tumor8 / 9417884
cervical tumor3 / 3436687
chondrosarcoma9 / 82823108
colorectal tumor12 / 114246105
esophageal tumor1 / 1729057
gastrointestinal tumor14 / 119369117
germ cell tumor66 / 263845250
glioma15 / 106883140
head and neck tumor8 / 13630258
kidney tumor7 / 68959101
leukemia15 / 95842156
liver tumor8 / 9635983
lung tumor6 / 10312758
lymphoma6 / 7175583
non-neoplasia6 / 9725061
normal268 / 336030779
ovarian tumor20 / 76682260
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer5 / 10268048
retinoblastoma12 / 46356258
skin tumor20 / 124949160
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites4 / 4001599
bladder7 / 29757235
blood13 / 123478105
bone7 / 7165597
bone marrow8 / 48801163
brain101 / 110098991
cervix4 / 4817183
connective tissue11 / 14925573
ear3 / 16212185
embryonic tissue17 / 21572278
esophagus2 / 2020998
eye21 / 21105499
heart7 / 8962678
intestine22 / 23447293
kidney30 / 211777141
larynx1 / 2414541
liver13 / 20774362
lung21 / 33697462
lymph0 / 442700 
lymph node3 / 9161032
mammary gland10 / 15327165
mouth2 / 6705229
muscle0 / 1077150 
nerve2 / 15768126
ovary25 / 102051244
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta25 / 28082589
prostate12 / 18934563
salivary gland0 / 201550 
skin34 / 210574161
spleen6 / 53952111
stomach6 / 9661962
testis59 / 330442178
thymus3 / 8113136
thyroid6 / 47473126
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus21 / 23287890
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202382_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts40.1
Adipocyte44.3
AdrenalCortex39.45
Adrenalgland108.45
Amygdala52.25
Appendix33.6
AtrioventricularNode37.05
BDCA4+_DentriticCells61.55
Bonemarrow33.3
BronchialEpithelialCells143.1
CD105+_Endothelial108.15
CD14+_Monocytes62.25
CD19+_BCells(neg._sel.)23.05
CD33+_Myeloid108.2
CD34+45.1
CD4+_Tcells53.5
CD56+_NKCells71.6
CD71+_EarlyErythroid24.65
CD8+_Tcells55.5
CardiacMyocytes43.65
Caudatenucleus49.85
Cerebellum31.55
CerebellumPeduncles50.65
CiliaryGanglion26.75
CingulateCortex62.45
Colorectaladenocarcinoma89.35
DorsalRootGanglion40.05
FetalThyroid38.35
Fetalbrain32.75
Fetalliver26.45
Fetallung31.1
GlobusPallidus39.75
Heart46.4
Hypothalamus65.75
Kidney211.05
Leukemia_chronicMyelogenousK-56247.35
Leukemia_promyelocytic-HL-6020.15
Leukemialymphoblastic(MOLT-4)106.75
Liver50.2
Lung52.4
Lymphnode41.05
Lymphoma_burkitts(Daudi)24.65
Lymphoma_burkitts(Raji)29.05
MedullaOblongata39.95
OccipitalLobe34.7
OlfactoryBulb35.05
Ovary19
Pancreas95.25
PancreaticIslet120.75
ParietalLobe49.25
Pituitary67.55
Placenta126.25
Pons66.3
PrefrontalCortex91.45
Prostate52
Salivarygland28
SkeletalMuscle43.1
Skin39.85
SmoothMuscle43.7
Spinalcord41.5
SubthalamicNucleus37.7
SuperiorCervicalGanglion48.3
TemporalLobe42.5
Testis64.35
TestisGermCell79.6
TestisIntersitial18.6
TestisLeydigCell31.1
TestisSeminiferousTubule37.85
Thalamus40.05
Thymus48.4
Thyroid99
Tongue35.95
Tonsil32.4
Trachea28.45
TrigeminalGanglion39.6
Uterus35.5
UterusCorpus40.2
WholeBlood42.35
Wholebrain58.75
colon26.65
pineal_day88.92
pineal_night109.76
retina79.825
small_intestine83.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10255_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
Amygdala8.45 ± 0.23
Basal Forebrain8.28 ± 0.17
Basal Part of Pons8.46 ± 0.2
Cerebellar Cortex8.17 ± 0.14
Cerebellar Nuclei8.55 ± 0.3
Claustrum8.28 ± 0.34
Epithalamus8.4 ± 0.15
Frontal Lobe8.48 ± 0.26
Globus Pallidus8.28 ± 0.33
Hypothalamus8.76 ± 0.32
Insula8.43 ± 0.32
Limbic Lobe8.47 ± 0.27
Mesencephalon8.5 ± 0.31
Myelencephalon8.4 ± 0.32
Occipital Lobe8.27 ± 0.29
Parietal Lobe8.51 ± 0.28
Pontine Tegmentum8.52 ± 0.33
Striatum8.42 ± 0.34
Subthalamus8.78 ± 0.36
Temporal Lobe8.56 ± 0.26
Thalamus8.2 ± 0.25
White Matter8.11 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gnpda1CBCerebellum5.88
5.79
Gnpda1CTXCerebral cortex5.71
3.98
Gnpda1HIPHippocampal region7.14
6.71
Gnpda1HPFHippocampal formation7.68
6.45
Gnpda1HYHypothalamus1.43
0.98
Gnpda1LSXLateral septal complex0.48
0.44
Gnpda1MBMidbrain1.93
1.61
Gnpda1MYMedulla5.69
5.13
Gnpda1OLFOlfactory bulb7.57
5.85
Gnpda1PPons3.55
3.1
Gnpda1PALPallidum2.22
1.68
Gnpda1RHPRetrohippocampal region8.52
6.06
Gnpda1sAMYStriatum-like amygdalar nuclei2.18
1.51
Gnpda1STRStriatum0.97
0.68
Gnpda1STRdStriatum dorsal region0.78
0.58
Gnpda1STRvStriatum ventral region1.34
0.78
Gnpda1THThalamus1.98
1.55
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GNPI1_HUMAN_0 0 0 0 IIQFNPGPEK PRIDE
GNPI1_HUMAN_126 32 126 157 AAGGIELFVGGIGPDGHIAFNEPGSSLVSRTR PRIDE
GNPI1_HUMAN_160 12 160 171 TLAMDTILANAR PRIDE
GNPI1_HUMAN_160 13 160 172 KTLAMDTILANAR PRIDE
GNPI1_HUMAN_161 12 161 172 TLAMDTILANAR PRIDE
GNPI1_HUMAN_2 16 2 17 LIILEHYSQASEWAAK PRIDE
GNPI1_HUMAN_23 10 23 32 IIQFNPGPEK PRIDE
GNPI1_HUMAN_67 12 67 78 TFNMDEYVGLPR PRIDE
GNPI1_HUMAN_68 12 68 79 TFNMDEYVGLPR PRIDE
PAp00003368 29 96 124 HIDIHPENTHILDGNAVDLQAECDAFEEK 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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