AutismKB 2.0

Annotation Detail for SPG11


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Basic Information Top
Gene Symbol:SPG11 ( DKFZp762B1512,FLJ21439,KIAA1840 )
Gene Full Name: spastic paraplegia 11 (autosomal recessive)
Band: 15q21.1
Quick LinksEntrez ID:80208; OMIM: 610844; Uniprot ID:SPTCS_HUMAN; ENSEMBL ID: ENSG00000104133; HGNC ID: 11226
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
fetus35 / 56401262
neonate1 / 3109732
infant1 / 2362042
juvenile3 / 5555653
adult137 / 193912170
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor6 / 26384522
glioma2 / 10688318
head and neck tumor26 / 136302190
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor4 / 9635941
lung tumor9 / 10312787
lymphoma5 / 7175569
non-neoplasia4 / 9725041
normal179 / 336030753
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer10 / 10268097
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland6 / 33197180
ascites1 / 4001524
bladder3 / 29757100
blood13 / 123478105
bone6 / 7165583
bone marrow2 / 4880140
brain38 / 110098934
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye6 / 21105428
heart4 / 8962644
intestine15 / 23447263
kidney6 / 21177728
larynx1 / 2414541
liver9 / 20774343
lung27 / 33697480
lymph3 / 4427067
lymph node10 / 91610109
mammary gland11 / 15327171
mouth8 / 67052119
muscle4 / 10771537
nerve1 / 1576863
ovary2 / 10205119
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx10 / 41328241
pituitary gland2 / 16585120
placenta5 / 28082517
prostate18 / 18934595
salivary gland0 / 201550 
skin3 / 21057414
spleen3 / 5395255
stomach8 / 9661982
testis23 / 33044269
thymus3 / 8113136
thyroid8 / 47473168
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus14 / 23287860
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203513_at
Cell line Expression level Expression bar
721_B_lymphoblasts289.75
Adipocyte37.75
AdrenalCortex45.45
Adrenalgland31.5
Amygdala74.6
Appendix73.45
AtrioventricularNode22.3
BDCA4+_DentriticCells272.75
Bonemarrow42.6
BronchialEpithelialCells63.2
CD105+_Endothelial136.9
CD14+_Monocytes377.25
CD19+_BCells(neg._sel.)365.25
CD33+_Myeloid593.85
CD34+338.9
CD4+_Tcells318.95
CD56+_NKCells444.7
CD71+_EarlyErythroid31.05
CD8+_Tcells357.1
CardiacMyocytes42.05
Caudatenucleus34.65
Cerebellum21.45
CerebellumPeduncles29.9
CiliaryGanglion25.75
CingulateCortex33.35
Colorectaladenocarcinoma40.8
DorsalRootGanglion23.65
FetalThyroid114.2
Fetalbrain80.8
Fetalliver24.5
Fetallung57.65
GlobusPallidus20
Heart34.25
Hypothalamus113
Kidney29
Leukemia_chronicMyelogenousK-562115.9
Leukemia_promyelocytic-HL-6074.45
Leukemialymphoblastic(MOLT-4)48.15
Liver31
Lung45.55
Lymphnode223.95
Lymphoma_burkitts(Daudi)34
Lymphoma_burkitts(Raji)64.7
MedullaOblongata29.6
OccipitalLobe45
OlfactoryBulb54.05
Ovary18.5
Pancreas32.75
PancreaticIslet74.45
ParietalLobe29.3
Pituitary101.65
Placenta26.7
Pons25.8
PrefrontalCortex66.95
Prostate179.35
Salivarygland68
SkeletalMuscle33.3
Skin23.9
SmoothMuscle56.55
Spinalcord65.9
SubthalamicNucleus24.35
SuperiorCervicalGanglion31.45
TemporalLobe25.25
Testis44.85
TestisGermCell128
TestisIntersitial100.2
TestisLeydigCell116.65
TestisSeminiferousTubule73.9
Thalamus36.55
Thymus81.8
Thyroid340.9
Tongue51.1
Tonsil127.85
Trachea63.6
TrigeminalGanglion30.9
Uterus98.2
UterusCorpus27.85
WholeBlood243.4
Wholebrain41.75
colon72.05
pineal_day289.68
pineal_night285.7
retina73.425
small_intestine44.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P65699
  • 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
Amygdala7.44 ± 0.32
Basal Forebrain7.62 ± 0.28
Basal Part of Pons7.75 ± 0.27
Cerebellar Cortex7.87 ± 0.15
Cerebellar Nuclei7.95 ± 0.23
Claustrum7.34 ± 0.45
Epithalamus8.25 ± 0.39
Frontal Lobe7.69 ± 0.28
Globus Pallidus7.91 ± 0.26
Hypothalamus7.76 ± 0.26
Insula7.65 ± 0.21
Limbic Lobe7.47 ± 0.29
Mesencephalon7.71 ± 0.32
Myelencephalon7.67 ± 0.31
Occipital Lobe7.68 ± 0.28
Parietal Lobe7.65 ± 0.34
Pontine Tegmentum7.66 ± 0.31
Striatum7.63 ± 0.29
Subthalamus7.78 ± 0.11
Temporal Lobe7.66 ± 0.27
Thalamus7.71 ± 0.23
White Matter8.64 ± 0.24
Mouse Brain ISH
Peptide Top

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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