AutismKB 2.0

Annotation Detail for ASPM


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Basic Information Top
Gene Symbol:ASPM ( ASP,Calmbp1,DKFZp686N06184,FLJ10517,FLJ10549,FLJ43117,MCPH5 )
Gene Full Name: asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
Band: 1q31.3
Quick LinksEntrez ID:259266; OMIM: 605481; Uniprot ID:ASPM_HUMAN; ENSEMBL ID: ENSG00000066279; HGNC ID: 19048
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 body3 / 7076142
blastocyst4 / 6231964
fetus26 / 56401246
neonate1 / 3109732
infant1 / 2362042
juvenile4 / 5555671
adult39 / 193912120
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor3 / 17290173
gastrointestinal tumor1 / 1193698
germ cell tumor24 / 26384590
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal79 / 336030723
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone4 / 7165555
bone marrow1 / 4880120
brain11 / 11009899
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus3 / 20209148
eye4 / 21105418
heart2 / 8962622
intestine3 / 23447212
kidney6 / 21177728
larynx0 / 241450 
liver16 / 20774377
lung3 / 3369748
lymph2 / 4427045
lymph node19 / 91610207
mammary gland2 / 15327113
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach0 / 966190 
testis17 / 33044251
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus8 / 23287834
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219918_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts456.15
Adipocyte5.55
AdrenalCortex6.55
Adrenalgland5
Amygdala5.7
Appendix13.95
AtrioventricularNode5.25
BDCA4+_DentriticCells8.15
Bonemarrow6
BronchialEpithelialCells5.5
CD105+_Endothelial161.7
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)5.9
CD33+_Myeloid11.9
CD34+107.25
CD4+_Tcells5.9
CD56+_NKCells6.45
CD71+_EarlyErythroid335.25
CD8+_Tcells5.3
CardiacMyocytes93.7
Caudatenucleus5.1
Cerebellum4.65
CerebellumPeduncles6.8
CiliaryGanglion4.45
CingulateCortex5.95
Colorectaladenocarcinoma58.8
DorsalRootGanglion4.7
FetalThyroid5.55
Fetalbrain5.45
Fetalliver99.05
Fetallung5.05
GlobusPallidus4.4
Heart8.2
Hypothalamus5.9
Kidney5.05
Leukemia_chronicMyelogenousK-56260.4
Leukemia_promyelocytic-HL-60144.65
Leukemialymphoblastic(MOLT-4)295.45
Liver8.25
Lung6.15
Lymphnode4.7
Lymphoma_burkitts(Daudi)211.85
Lymphoma_burkitts(Raji)8.6
MedullaOblongata5.1
OccipitalLobe5.05
OlfactoryBulb4.4
Ovary4.05
Pancreas4.9
PancreaticIslet6.1
ParietalLobe6.35
Pituitary6.55
Placenta5.6
Pons5.55
PrefrontalCortex6.75
Prostate6.45
Salivarygland4.75
SkeletalMuscle8
Skin4.8
SmoothMuscle6.4
Spinalcord6
SubthalamicNucleus5.3
SuperiorCervicalGanglion7.9
TemporalLobe5.3
Testis4.85
TestisGermCell5.7
TestisIntersitial5.35
TestisLeydigCell6.9
TestisSeminiferousTubule7.95
Thalamus5.85
Thymus4.9
Thyroid6.9
Tongue6.1
Tonsil7.25
Trachea4.7
TrigeminalGanglion6.65
Uterus4.5
UterusCorpus5.45
WholeBlood6.1
Wholebrain4.55
colon5.65
pineal_day6.88
pineal_night6.82
retina6.8
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P911179
  • 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
Amygdala2.71 ± 1.09
Basal Forebrain2.25 ± 0.18
Basal Part of Pons1.87 ± 0.56
Cerebellar Cortex1.96 ± 0.72
Cerebellar Nuclei2.44 ± 0.75
Claustrum3.04 ± 0.88
Epithalamus1.96 ± 0.76
Frontal Lobe2.1 ± 0.73
Globus Pallidus3.12 ± 0.52
Hypothalamus2.42 ± 0.71
Insula2 ± 0.44
Limbic Lobe2.18 ± 0.7
Mesencephalon2.38 ± 0.76
Myelencephalon2.24 ± 0.74
Occipital Lobe2.29 ± 0.7
Parietal Lobe2.12 ± 0.8
Pontine Tegmentum2.28 ± 0.73
Striatum2.27 ± 0.53
Subthalamus2.22 ± 0.61
Temporal Lobe2.14 ± 0.78
Thalamus2.17 ± 0.62
White Matter2.67 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AspmCBCerebellum0.25
0.74
AspmCTXCerebral cortex0.41
0.44
AspmHIPHippocampal region0.7
0.67
AspmHPFHippocampal formation0.55
0.52
AspmHYHypothalamus0.73
0.49
AspmLSXLateral septal complex1.01
1.3
AspmMBMidbrain0.18
0.28
AspmMYMedulla0.51
0.67
AspmOLFOlfactory bulb0.55
0.41
AspmPPons0.27
0.31
AspmPALPallidum0.5
0.33
AspmRHPRetrohippocampal region0.27
0.27
AspmsAMYStriatum-like amygdalar nuclei0.05
0.02
AspmSTRStriatum0.43
0.43
AspmSTRdStriatum dorsal region0.37
0.39
AspmSTRvStriatum ventral region0.5
0.36
AspmTHThalamus0.54
0.54
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ASPM_HUMAN_1101 14 1101 1114 RDSGSFEQYSENIK PRIDE
ASPM_HUMAN_1102 13 1102 1114 DSGSFEQYSENIK PRIDE
ASPM_HUMAN_219 24 219 242 IPISPISPAFNECHGATCLPLSVR PRIDE
ASPM_HUMAN_257 18 257 274 ELLNVHSANVSKVSFNEK PRIDE
ASPM_HUMAN_26 21 26 46 GPAAEEEASSPPVLSLSHFCR PRIDE
ASPM_HUMAN_275 16 275 290 AVTETSFNSVNVNGQR PRIDE
ASPM_HUMAN_3424 15 3424 3438 NSSISIPFIPETPVR PRIDE
ASPM_HUMAN_346 19 346 364 DNSQPVHLESTIAHEIYQK PRIDE
ASPM_HUMAN_365 9 365 373 ILSPDSFIK PRIDE
ASPM_HUMAN_374 25 374 398 DNYGLNQDLESESVNPILSPNQFLK PRIDE
ASPM_HUMAN_413 19 413 431 VPLSNENSQVPQSPEDWRK PRIDE
ASPM_HUMAN_459 8 459 466 SNYYSFIK PRIDE
ASPM_HUMAN_560 14 560 573 NEVTPSSTTASVAR PRIDE
ASPM_HUMAN_602 9 602 610 IHFSPSEPK PRIDE
ASPM_HUMAN_640 12 640 651 TDLSIFRTPISK PRIDE
ASPM_HUMAN_9 10 9 18 GCWEVSPTER 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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