AutismKB 2.0

Annotation Detail for IMPDH2


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Basic Information Top
Gene Symbol:IMPDH2 ( IMPD2,IMPDH-II )
Gene Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 2
Band: 3p21.31
Quick LinksEntrez ID:3615; OMIM: 146691; Uniprot ID:IMDH2_HUMAN; ENSEMBL ID: ENSG00000178035; HGNC ID: 6053
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 body15 / 70761211
blastocyst29 / 62319465
fetus75 / 564012132
neonate0 / 310970 
infant1 / 2362042
juvenile22 / 55556395
adult337 / 1939121173
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor40 / 94178424
cervical tumor28 / 34366814
chondrosarcoma17 / 82823205
colorectal tumor48 / 114246420
esophageal tumor0 / 172900 
gastrointestinal tumor35 / 119369293
germ cell tumor137 / 263845519
glioma95 / 106883888
head and neck tumor22 / 136302161
kidney tumor39 / 68959565
leukemia32 / 95842333
liver tumor23 / 96359238
lung tumor118 / 1031271144
lymphoma64 / 71755891
non-neoplasia1 / 9725010
normal492 / 3360307146
ovarian tumor39 / 76682508
pancreatic tumor29 / 104616277
primitive neuroectodermal tumor of the CNS58 / 125680461
prostate cancer34 / 102680331
retinoblastoma76 / 463561639
skin tumor101 / 124949808
soft tissue/muscle tissue tumor66 / 125191527
uterine tumor25 / 90257276
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites16 / 40015399
bladder4 / 29757134
blood50 / 123478404
bone17 / 71655237
bone marrow6 / 48801122
brain213 / 1100989193
cervix33 / 48171685
connective tissue12 / 14925580
ear4 / 16212246
embryonic tissue68 / 215722315
esophagus0 / 202090 
eye128 / 211054606
heart9 / 89626100
intestine70 / 234472298
kidney47 / 211777221
larynx0 / 241450 
liver31 / 207743149
lung141 / 336974418
lymph56 / 442701264
lymph node24 / 91610261
mammary gland41 / 153271267
mouth1 / 6705214
muscle36 / 107715334
nerve6 / 15768380
ovary73 / 102051715
pancreas33 / 214812153
parathyroid2 / 2053997
pharynx8 / 41328193
pituitary gland3 / 16585180
placenta121 / 280825430
prostate48 / 189345253
salivary gland10 / 20155496
skin115 / 210574546
spleen5 / 5395292
stomach7 / 9661972
testis33 / 33044299
thymus4 / 8113149
thyroid4 / 4747384
tonsil33 / 169991941
trachea0 / 524130 
umbilical cord0 / 136800 
uterus65 / 232878279
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201892_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1859.35
Adipocyte122.9
AdrenalCortex154.55
Adrenalgland117.9
Amygdala35.8
Appendix45.1
AtrioventricularNode41.15
BDCA4+_DentriticCells254.5
Bonemarrow250.2
BronchialEpithelialCells828.9
CD105+_Endothelial836.55
CD14+_Monocytes153.3
CD19+_BCells(neg._sel.)679.05
CD33+_Myeloid158.9
CD34+2142.75
CD4+_Tcells277.95
CD56+_NKCells198.85
CD71+_EarlyErythroid109.2
CD8+_Tcells265.2
CardiacMyocytes352.75
Caudatenucleus57.3
Cerebellum69.4
CerebellumPeduncles78.2
CiliaryGanglion24.4
CingulateCortex27.5
Colorectaladenocarcinoma885.25
DorsalRootGanglion36.45
FetalThyroid196
Fetalbrain176.05
Fetalliver152.7
Fetallung341.55
GlobusPallidus13.55
Heart185.1
Hypothalamus98.7
Kidney37.45
Leukemia_chronicMyelogenousK-562771.35
Leukemia_promyelocytic-HL-601331.55
Leukemialymphoblastic(MOLT-4)998.5
Liver163.95
Lung304.1
Lymphnode148.9
Lymphoma_burkitts(Daudi)2225.7
Lymphoma_burkitts(Raji)1158.9
MedullaOblongata29.9
OccipitalLobe31.05
OlfactoryBulb114.6
Ovary692.05
Pancreas320.45
PancreaticIslet807.3
ParietalLobe25.1
Pituitary115
Placenta124.7
Pons16.5
PrefrontalCortex76.6
Prostate332.4
Salivarygland174
SkeletalMuscle74.6
Skin119.35
SmoothMuscle445.3
Spinalcord114.2
SubthalamicNucleus36.05
SuperiorCervicalGanglion19.55
TemporalLobe18.65
Testis123.65
TestisGermCell45.4
TestisIntersitial55.45
TestisLeydigCell31.2
TestisSeminiferousTubule45.25
Thalamus59.25
Thymus433.7
Thyroid177.25
Tongue183.55
Tonsil268.6
Trachea137.2
TrigeminalGanglion19.15
Uterus146.4
UterusCorpus91.6
WholeBlood77.25
Wholebrain95.15
colon228.9
pineal_day71.8
pineal_night63.76
retina102.675
small_intestine397.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16103_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
Amygdala6.43 ± 0.39
Basal Forebrain6.22 ± 0.24
Basal Part of Pons6.24 ± 0.27
Cerebellar Cortex5.87 ± 0.24
Cerebellar Nuclei6.49 ± 0.29
Claustrum6.52 ± 0.5
Epithalamus6.21 ± 0.33
Frontal Lobe6.04 ± 0.35
Globus Pallidus6.8 ± 0.17
Hypothalamus6.39 ± 0.38
Insula5.96 ± 0.32
Limbic Lobe6.17 ± 0.38
Mesencephalon6.29 ± 0.4
Myelencephalon6.18 ± 0.35
Occipital Lobe6.23 ± 0.36
Parietal Lobe6.18 ± 0.39
Pontine Tegmentum6.11 ± 0.34
Striatum6.23 ± 0.35
Subthalamus5.92 ± 0.57
Temporal Lobe6.1 ± 0.34
Thalamus6.12 ± 0.3
White Matter6.94 ± 0.44
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
IMDH2_HUMAN_108 16 108 123 KYEQGFITDPVVLSPK PRIDE
IMDH2_HUMAN_118 9 118 126 PVVLSPKDR PRIDE
IMDH2_HUMAN_154 8 154 161 LVGIISSR PRIDE
IMDH2_HUMAN_162 20 162 181 DIDFLKEEEHDCFLEEIMTK PRIDE
IMDH2_HUMAN_181 14 181 194 REDLVVAPAGITLK PRIDE
IMDH2_HUMAN_291 20 291 310 DKYPNLQVIGGNVVTAAQAK PRIDE
IMDH2_HUMAN_311 11 311 321 NLIDAGVDALR PRIDE
IMDH2_HUMAN_355 20 355 374 RFGVPVIADGGIQNVGHIAK PRIDE
IMDH2_HUMAN_356 19 356 374 FGVPVIADGGIQNVGHIAK PRIDE
IMDH2_HUMAN_438 12 438 449 VAQGVSGAVQDK PRIDE
IMDH2_HUMAN_438 17 438 454 VAQGVSGAVQDKGSIHK PRIDE
IMDH2_HUMAN_481 9 481 489 AMMYSGELK PRIDE
IMDH2_HUMAN_505 8 505 512 SLHSYEKR PRIDE
PAp00000676 15 135 149 ARHGFCGIPITDTGR 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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