AutismKB 2.0

Annotation Detail for ATIC


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Basic Information Top
Gene Symbol:ATIC ( AICAR,AICARFT,FLJ93545,IMPCHASE,PURH )
Gene Full Name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Band: 2q35
Quick LinksEntrez ID:471; OMIM: 601731; Uniprot ID:PUR9_HUMAN; ENSEMBL ID: ENSG00000138363; HGNC ID: 794
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
blastocyst9 / 62319144
fetus51 / 56401290
neonate2 / 3109764
infant8 / 23620338
juvenile20 / 55556359
adult227 / 1939121117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor13 / 94178138
cervical tumor6 / 34366174
chondrosarcoma8 / 8282396
colorectal tumor48 / 114246420
esophageal tumor3 / 17290173
gastrointestinal tumor23 / 119369192
germ cell tumor56 / 263845212
glioma21 / 106883196
head and neck tumor5 / 13630236
kidney tumor9 / 68959130
leukemia15 / 95842156
liver tumor19 / 96359197
lung tumor16 / 103127155
lymphoma37 / 71755515
non-neoplasia14 / 97250143
normal340 / 3360307101
ovarian tumor14 / 76682182
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS48 / 125680381
prostate cancer25 / 102680243
retinoblastoma22 / 46356474
skin tumor41 / 124949328
soft tissue/muscle tissue tumor25 / 125191199
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland7 / 33197210
ascites12 / 40015299
bladder3 / 29757100
blood19 / 123478153
bone8 / 71655111
bone marrow15 / 48801307
brain166 / 1100989150
cervix10 / 48171207
connective tissue20 / 149255133
ear1 / 1621261
embryonic tissue27 / 215722125
esophagus3 / 20209148
eye32 / 211054151
heart12 / 89626133
intestine66 / 234472281
kidney23 / 211777108
larynx1 / 2414541
liver28 / 207743134
lung26 / 33697477
lymph29 / 44270655
lymph node13 / 91610141
mammary gland19 / 153271123
mouth3 / 6705244
muscle8 / 10771574
nerve3 / 15768190
ovary15 / 102051146
pancreas21 / 21481297
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta32 / 280825113
prostate28 / 189345147
salivary gland0 / 201550 
skin47 / 210574223
spleen8 / 53952148
stomach11 / 96619113
testis45 / 330442136
thymus9 / 81131110
thyroid3 / 4747363
tonsil5 / 16999294
trachea1 / 5241319
umbilical cord1 / 1368073
uterus22 / 23287894
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208758_at
Cell line Expression level Expression bar
721_B_lymphoblasts1837.2
Adipocyte68.05
AdrenalCortex24.7
Adrenalgland33.45
Amygdala35.15
Appendix13.25
AtrioventricularNode9.4
BDCA4+_DentriticCells238.75
Bonemarrow38.25
BronchialEpithelialCells248.65
CD105+_Endothelial359.65
CD14+_Monocytes47.25
CD19+_BCells(neg._sel.)361.7
CD33+_Myeloid43
CD34+617.25
CD4+_Tcells199.65
CD56+_NKCells184.9
CD71+_EarlyErythroid31.25
CD8+_Tcells213.3
CardiacMyocytes46.3
Caudatenucleus26.8
Cerebellum11.8
CerebellumPeduncles10.05
CiliaryGanglion4.6
CingulateCortex27.05
Colorectaladenocarcinoma255.95
DorsalRootGanglion8.9
FetalThyroid12.55
Fetalbrain30.15
Fetalliver30.35
Fetallung32.55
GlobusPallidus10.25
Heart63.9
Hypothalamus89.05
Kidney21.7
Leukemia_chronicMyelogenousK-562353.2
Leukemia_promyelocytic-HL-60507.05
Leukemialymphoblastic(MOLT-4)242.25
Liver38.95
Lung74.75
Lymphnode40.05
Lymphoma_burkitts(Daudi)720.8
Lymphoma_burkitts(Raji)263.3
MedullaOblongata27.7
OccipitalLobe28.55
OlfactoryBulb27.05
Ovary10.2
Pancreas55.25
PancreaticIslet61
ParietalLobe25.1
Pituitary63.65
Placenta58.5
Pons22.25
PrefrontalCortex67.3
Prostate38.2
Salivarygland31.5
SkeletalMuscle14.55
Skin12.6
SmoothMuscle203
Spinalcord38.8
SubthalamicNucleus13.8
SuperiorCervicalGanglion17.05
TemporalLobe13.15
Testis47.75
TestisGermCell46.6
TestisIntersitial13.85
TestisLeydigCell16.2
TestisSeminiferousTubule17.35
Thalamus54.35
Thymus134.45
Thyroid25.4
Tongue12.8
Tonsil64.75
Trachea17.1
TrigeminalGanglion11.8
Uterus32.4
UterusCorpus24
WholeBlood60
Wholebrain67.05
colon48.85
pineal_day86.56
pineal_night73.36
retina73.05
small_intestine87.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P68087
  • 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
Amygdala6.84 ± 0.38
Basal Forebrain7.1 ± 0.26
Basal Part of Pons7.31 ± 0.28
Cerebellar Cortex6.73 ± 0.15
Cerebellar Nuclei7.26 ± 0.17
Claustrum6.76 ± 0.62
Epithalamus7.36 ± 0.22
Frontal Lobe7.27 ± 0.35
Globus Pallidus7.53 ± 0.28
Hypothalamus7.34 ± 0.36
Insula7.26 ± 0.27
Limbic Lobe6.92 ± 0.53
Mesencephalon7.1 ± 0.4
Myelencephalon7.12 ± 0.4
Occipital Lobe6.6 ± 0.54
Parietal Lobe7.21 ± 0.36
Pontine Tegmentum7.2 ± 0.41
Striatum7.29 ± 0.39
Subthalamus7.46 ± 0.37
Temporal Lobe7.25 ± 0.34
Thalamus7.23 ± 0.3
White Matter7.76 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AticCBCerebellum3.9
4.24
AticCTXCerebral cortex2.38
1.85
AticHIPHippocampal region3.6
3.32
AticHPFHippocampal formation4.76
4
AticHYHypothalamus4.02
3.53
AticLSXLateral septal complex0.54
0.52
AticMBMidbrain3.05
3.3
AticMYMedulla7.17
9.36
AticOLFOlfactory bulb3.07
2.37
AticPPons5.17
6.47
AticPALPallidum2.97
3.12
AticRHPRetrohippocampal region7.18
5.3
AticsAMYStriatum-like amygdalar nuclei1.68
1.42
AticSTRStriatum1.06
0.94
AticSTRdStriatum dorsal region0.86
0.76
AticSTRvStriatum ventral region1.37
1.17
AticTHThalamus2.71
2.44
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003612 19 267 285 HVSPAGAAVGIPLSEDEAK Peptide Atlas
PUR9_HUMAN_1 14 1 14 MAPGQLALFSVSDK PRIDE
PUR9_HUMAN_108 25 108 132 TVASPGVTVEEAVEQIDIGGVTLLR PRIDE
PUR9_HUMAN_173 22 173 194 QLALKAFTHTAQYDEAISDYFR PRIDE
PUR9_HUMAN_173 9 173 181 QLALKAFTH PRIDE
PUR9_HUMAN_2 21 2 22 APGQLALFSVSDKTGLVEFAR PRIDE
PUR9_HUMAN_200 8 200 207 GVSQMPLR PRIDE
PUR9_HUMAN_207 18 207 224 YGMNPHQTPAQLYTLQPK PRIDE
PUR9_HUMAN_22 17 22 38 NLTALGLNLVASGGTAK PRIDE
PUR9_HUMAN_225 26 225 250 LPITVLNGAPGFINLCDALNAWQLVK PRIDE
PUR9_HUMAN_266 19 266 284 HVSPAGAAVGIPLSEDEAK PRIDE
PUR9_HUMAN_294 11 294 304 TLTPISAAYAR PRIDE
PUR9_HUMAN_469 9 469 477 HHPQVLSMK PRIDE
PUR9_HUMAN_49 15 49 63 DVSELTGFPEMLGGR PRIDE
PUR9_HUMAN_50 15 50 64 DVSELTGFPEMLGGR PRIDE
PUR9_HUMAN_509 16 509 524 ALFEEVPELLTEAEKK PRIDE
PUR9_HUMAN_553 35 553 587 SGVAYIAAPSGSAADKVVIEACDELGIILAHTNLR PRIDE
PUR9_HUMAN_66 13 66 78 TLHPAVHAGILAR PRIDE
PUR9_HUMAN_80 11 80 90 NIPEDNADMAR PRIDE
PUR9_HUMAN_97 11 97 107 VVACNLYPFVK 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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