AutismKB 2.0

Annotation Detail for IMPDH1


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Basic Information Top
Gene Symbol:IMPDH1 ( DKFZp781N0678,IMPD,IMPD1,LCA11,RP10,sWSS2608 )
Gene Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 1
Band: 7q32.1
Quick LinksEntrez ID:3614; OMIM: 146690; Uniprot ID:IMDH1_HUMAN; ENSEMBL ID: ENSG00000106348; HGNC ID: 6052
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 body2 / 7076128
blastocyst2 / 6231932
fetus26 / 56401246
neonate9 / 31097289
infant0 / 236200 
juvenile19 / 55556341
adult112 / 193912157
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) tumor13 / 94178138
cervical tumor6 / 34366174
chondrosarcoma4 / 8282348
colorectal tumor13 / 114246113
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor26 / 26384598
glioma14 / 106883130
head and neck tumor8 / 13630258
kidney tumor13 / 68959188
leukemia5 / 9584252
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma4 / 7175555
non-neoplasia6 / 9725061
normal178 / 336030752
ovarian tumor6 / 7668278
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS32 / 125680254
prostate cancer9 / 10268087
retinoblastoma4 / 4635686
skin tumor7 / 12494956
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland3 / 3319790
ascites8 / 40015199
bladder0 / 297570 
blood9 / 12347872
bone7 / 7165597
bone marrow2 / 4880140
brain80 / 110098972
cervix6 / 48171124
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye19 / 21105490
heart7 / 8962678
intestine18 / 23447276
kidney28 / 211777132
larynx0 / 241450 
liver11 / 20774352
lung13 / 33697438
lymph1 / 4427022
lymph node2 / 9161021
mammary gland14 / 15327191
mouth6 / 6705289
muscle0 / 1077150 
nerve0 / 157680 
ovary11 / 102051107
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate15 / 18934579
salivary gland1 / 2015549
skin17 / 21057480
spleen9 / 53952166
stomach1 / 9661910
testis19 / 33044257
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord3 / 13680219
uterus9 / 23287838
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204169_at
Cell line Expression level Expression bar
721_B_lymphoblasts72.1
Adipocyte24.8
AdrenalCortex16.35
Adrenalgland13.95
Amygdala18.15
Appendix16.4
AtrioventricularNode12.4
BDCA4+_DentriticCells40.1
Bonemarrow21.85
BronchialEpithelialCells28.4
CD105+_Endothelial17.9
CD14+_Monocytes194.95
CD19+_BCells(neg._sel.)57.8
CD33+_Myeloid182
CD34+47.35
CD4+_Tcells45.45
CD56+_NKCells37.15
CD71+_EarlyErythroid16.05
CD8+_Tcells25.75
CardiacMyocytes30.95
Caudatenucleus15.1
Cerebellum13.1
CerebellumPeduncles19
CiliaryGanglion12.45
CingulateCortex21.45
Colorectaladenocarcinoma20.1
DorsalRootGanglion18.15
FetalThyroid16.55
Fetalbrain23.9
Fetalliver12.8
Fetallung14.45
GlobusPallidus12.2
Heart21
Hypothalamus18.75
Kidney13.55
Leukemia_chronicMyelogenousK-56216.95
Leukemia_promyelocytic-HL-6040.6
Leukemialymphoblastic(MOLT-4)15.1
Liver11.5
Lung22.2
Lymphnode19.55
Lymphoma_burkitts(Daudi)31.15
Lymphoma_burkitts(Raji)28.7
MedullaOblongata14.6
OccipitalLobe12.95
OlfactoryBulb13.1
Ovary11.15
Pancreas14.45
PancreaticIslet16.7
ParietalLobe17.2
Pituitary19.55
Placenta17.25
Pons16.15
PrefrontalCortex21
Prostate20.45
Salivarygland13.5
SkeletalMuscle13.25
Skin12.65
SmoothMuscle41.4
Spinalcord18.4
SubthalamicNucleus15.35
SuperiorCervicalGanglion18.95
TemporalLobe15.6
Testis15.95
TestisGermCell13.6
TestisIntersitial11.95
TestisLeydigCell16.9
TestisSeminiferousTubule15.35
Thalamus17.4
Thymus13.8
Thyroid10.8
Tongue22.6
Tonsil16.2
Trachea12.65
TrigeminalGanglion34.45
Uterus11.2
UterusCorpus13
WholeBlood173.2
Wholebrain16.35
colon16.95
pineal_day103.46
pineal_night52.32
retina20.75
small_intestine12.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P157240
  • 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
Amygdala4.13 ± 0.89
Basal Forebrain4.07 ± 0.44
Basal Part of Pons4.47 ± 0.46
Cerebellar Cortex4.2 ± 0.59
Cerebellar Nuclei4.44 ± 0.45
Claustrum4.36 ± 0.76
Epithalamus3.28 ± 0.66
Frontal Lobe3.83 ± 0.63
Globus Pallidus4.18 ± 0.67
Hypothalamus3.17 ± 0.54
Insula3.62 ± 0.46
Limbic Lobe3.95 ± 0.67
Mesencephalon3.9 ± 0.67
Myelencephalon3.92 ± 0.63
Occipital Lobe3.99 ± 0.68
Parietal Lobe3.95 ± 0.68
Pontine Tegmentum3.9 ± 0.79
Striatum4.15 ± 0.76
Subthalamus4.26 ± 0.28
Temporal Lobe3.77 ± 0.55
Thalamus4.01 ± 0.57
White Matter3.15 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Impdh1CBCerebellum100
100
Impdh1CTXCerebral cortex80.1
64.8
Impdh1HIPHippocampal region34.8
45.8
Impdh1HPFHippocampal formation34.24
38.07
Impdh1HYHypothalamus36.84
29.26
Impdh1LSXLateral septal complex31.24
25.83
Impdh1MBMidbrain47.7
43.23
Impdh1MYMedulla51.4
53.11
Impdh1OLFOlfactory bulb78.67
85.37
Impdh1PPons42.72
40.81
Impdh1PALPallidum40.69
32.6
Impdh1RHPRetrohippocampal region33.71
26.93
Impdh1sAMYStriatum-like amygdalar nuclei19.6
13.46
Impdh1STRStriatum40.34
32.36
Impdh1STRdStriatum dorsal region38.92
30.81
Impdh1STRvStriatum ventral region58.14
44.09
Impdh1THThalamus44.5
34.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
IMDH1_HUMAN_170 13 170 182 DHTTLLSEVMTPR PRIDE
PAp00005725 12 143 154 NCTPEFQANEVR 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