AutismKB 2.0

Annotation Detail for SPAST


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Basic Information Top
Gene Symbol:SPAST ( ADPSP,FSP2,KIAA1083,SPG4 )
Gene Full Name: spastin
Band: 2p22.3
Quick LinksEntrez ID:6683; OMIM: 604277; Uniprot ID:SPAST_HUMAN; ENSEMBL ID: ENSG00000021574; HGNC ID: 11233
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
blastocyst2 / 6231932
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult51 / 193912126
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor17 / 136302124
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal62 / 336030718
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain27 / 110098924
cervix1 / 4817120
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue7 / 21572232
esophagus2 / 2020998
eye3 / 21105414
heart0 / 896260 
intestine2 / 2344728
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node5 / 9161054
mammary gland4 / 15327126
mouth3 / 6705244
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis7 / 33044221
thymus1 / 8113112
thyroid14 / 47473294
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207724_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.1
Adipocyte6.85
AdrenalCortex8.8
Adrenalgland6.2
Amygdala7.05
Appendix10.1
AtrioventricularNode7.55
BDCA4+_DentriticCells7.4
Bonemarrow7.6
BronchialEpithelialCells6.65
CD105+_Endothelial8.9
CD14+_Monocytes7.35
CD19+_BCells(neg._sel.)7.2
CD33+_Myeloid9.05
CD34+9
CD4+_Tcells7.3
CD56+_NKCells7.95
CD71+_EarlyErythroid6.75
CD8+_Tcells6.65
CardiacMyocytes10.45
Caudatenucleus6.25
Cerebellum5.75
CerebellumPeduncles8.25
CiliaryGanglion6.25
CingulateCortex7.3
Colorectaladenocarcinoma7
DorsalRootGanglion6.5
FetalThyroid7
Fetalbrain6.85
Fetalliver6.2
Fetallung5.4
GlobusPallidus5.55
Heart9.95
Hypothalamus7.15
Kidney6.25
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-606.15
Leukemialymphoblastic(MOLT-4)5.35
Liver10.2
Lung7.5
Lymphnode5.75
Lymphoma_burkitts(Daudi)9.1
Lymphoma_burkitts(Raji)10.5
MedullaOblongata6.25
OccipitalLobe6.15
OlfactoryBulb5.5
Ovary5.2
Pancreas5.75
PancreaticIslet7.55
ParietalLobe7.65
Pituitary8.25
Placenta6.8
Pons6.9
PrefrontalCortex8.45
Prostate7.85
Salivarygland5.9
SkeletalMuscle10.15
Skin7.35
SmoothMuscle7.8
Spinalcord7.45
SubthalamicNucleus6.75
SuperiorCervicalGanglion16.25
TemporalLobe6.65
Testis5.95
TestisGermCell5.55
TestisIntersitial6.2
TestisLeydigCell7.4
TestisSeminiferousTubule6
Thalamus7.2
Thymus5.15
Thyroid8.3
Tongue7.95
Tonsil6.95
Trachea5.75
TrigeminalGanglion9.95
Uterus5.55
UterusCorpus7.05
WholeBlood8.45
Wholebrain5.45
colon6.95
pineal_day8.56
pineal_night8.42
retina8.5
small_intestine6.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P209356
  • 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
Amygdala6.69 ± 0.36
Basal Forebrain6.49 ± 0.25
Basal Part of Pons6.45 ± 0.27
Cerebellar Cortex6.48 ± 0.35
Cerebellar Nuclei6.87 ± 0.29
Claustrum6.65 ± 0.56
Epithalamus6.36 ± 0.36
Frontal Lobe6.54 ± 0.35
Globus Pallidus7.07 ± 0.23
Hypothalamus6.53 ± 0.41
Insula6.57 ± 0.35
Limbic Lobe6.81 ± 0.37
Mesencephalon6.68 ± 0.36
Myelencephalon6.6 ± 0.35
Occipital Lobe6.96 ± 0.35
Parietal Lobe6.58 ± 0.34
Pontine Tegmentum6.69 ± 0.36
Striatum6.46 ± 0.37
Subthalamus6.62 ± 0.48
Temporal Lobe6.58 ± 0.3
Thalamus6.6 ± 0.27
White Matter7.54 ± 0.23
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011533 28 207 234 SQTDVYNDSTNLACRNGHLQSESGAVPK Peptide Atlas
SPAST_HUMAN_158 18 158 175 GIAVIVTGQGEQCERARR 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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