AutismKB 2.0

Annotation Detail for SPG21


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Basic Information Top
Gene Symbol:SPG21 ( ACP33,GL010,MASPARDIN,MAST )
Gene Full Name: spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Band: 15q22.31
Quick LinksEntrez ID:51324; OMIM: 608181; Uniprot ID:SPG21_HUMAN; ENSEMBL ID: ENSG00000090487; HGNC ID: 20373
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 body6 / 7076184
blastocyst1 / 6231916
fetus43 / 56401276
neonate2 / 3109764
infant3 / 23620127
juvenile4 / 5555671
adult220 / 1939121113
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) tumor14 / 94178148
cervical tumor9 / 34366261
chondrosarcoma4 / 8282348
colorectal tumor13 / 114246113
esophageal tumor4 / 17290231
gastrointestinal tumor5 / 11936941
germ cell tumor16 / 26384560
glioma7 / 10688365
head and neck tumor37 / 136302271
kidney tumor4 / 6895958
leukemia11 / 95842114
liver tumor8 / 9635983
lung tumor8 / 10312777
lymphoma5 / 7175569
non-neoplasia6 / 9725061
normal259 / 336030777
ovarian tumor7 / 7668291
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer8 / 10268077
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland2 / 3319760
ascites2 / 4001549
bladder1 / 2975733
blood5 / 12347840
bone14 / 71655195
bone marrow9 / 48801184
brain67 / 110098960
cervix9 / 48171186
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue13 / 21572260
esophagus4 / 20209197
eye18 / 21105485
heart7 / 8962678
intestine19 / 23447281
kidney9 / 21177742
larynx8 / 24145331
liver13 / 20774362
lung30 / 33697489
lymph2 / 4427045
lymph node5 / 9161054
mammary gland18 / 153271117
mouth3 / 6705244
muscle5 / 10771546
nerve2 / 15768126
ovary11 / 102051107
pancreas27 / 214812125
parathyroid5 / 20539243
pharynx5 / 41328120
pituitary gland4 / 16585241
placenta44 / 280825156
prostate16 / 18934584
salivary gland1 / 2015549
skin11 / 21057452
spleen0 / 539520 
stomach5 / 9661951
testis15 / 33044245
thymus3 / 8113136
thyroid23 / 47473484
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord2 / 13680146
uterus14 / 23287860
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217827_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts808.35
Adipocyte187.05
AdrenalCortex55.95
Adrenalgland205.8
Amygdala167.55
Appendix67.6
AtrioventricularNode21.95
BDCA4+_DentriticCells617.05
Bonemarrow162.6
BronchialEpithelialCells330.35
CD105+_Endothelial182.05
CD14+_Monocytes1558.55
CD19+_BCells(neg._sel.)712.9
CD33+_Myeloid1515.95
CD34+547.6
CD4+_Tcells250.15
CD56+_NKCells479.65
CD71+_EarlyErythroid61.85
CD8+_Tcells175.55
CardiacMyocytes91.2
Caudatenucleus84.5
Cerebellum64.5
CerebellumPeduncles66.15
CiliaryGanglion41.1
CingulateCortex65.65
Colorectaladenocarcinoma99.05
DorsalRootGanglion42.05
FetalThyroid192.9
Fetalbrain77.75
Fetalliver46.7
Fetallung210.6
GlobusPallidus42.15
Heart115.15
Hypothalamus179.85
Kidney231.1
Leukemia_chronicMyelogenousK-562226.7
Leukemia_promyelocytic-HL-60384.4
Leukemialymphoblastic(MOLT-4)170.15
Liver602.95
Lung617.95
Lymphnode172.8
Lymphoma_burkitts(Daudi)314.1
Lymphoma_burkitts(Raji)666.8
MedullaOblongata66.9
OccipitalLobe67.9
OlfactoryBulb168.9
Ovary50.55
Pancreas82.55
PancreaticIslet261.75
ParietalLobe70.55
Pituitary179.6
Placenta581.3
Pons58.05
PrefrontalCortex157.35
Prostate265.4
Salivarygland80.05
SkeletalMuscle46.25
Skin51.65
SmoothMuscle161.7
Spinalcord202.1
SubthalamicNucleus60.85
SuperiorCervicalGanglion58.1
TemporalLobe50.15
Testis220.35
TestisGermCell224.7
TestisIntersitial49.7
TestisLeydigCell66.35
TestisSeminiferousTubule61.5
Thalamus79.75
Thymus205.6
Thyroid507.65
Tongue81.15
Tonsil104.2
Trachea123.6
TrigeminalGanglion30.45
Uterus174.45
UterusCorpus74.8
WholeBlood800.45
Wholebrain153.35
colon209.4
pineal_day322.98
pineal_night311.92
retina434.1
small_intestine308.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P147450
  • 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
Amygdala8.1 ± 0.36
Basal Forebrain8.53 ± 0.09
Basal Part of Pons8.51 ± 0.22
Cerebellar Cortex8.22 ± 0.14
Cerebellar Nuclei8.7 ± 0.16
Claustrum8.21 ± 0.35
Epithalamus8.79 ± 0.25
Frontal Lobe8.48 ± 0.24
Globus Pallidus8.89 ± 0.09
Hypothalamus8.68 ± 0.23
Insula8.38 ± 0.16
Limbic Lobe8.36 ± 0.3
Mesencephalon8.39 ± 0.27
Myelencephalon8.42 ± 0.3
Occipital Lobe8.13 ± 0.33
Parietal Lobe8.39 ± 0.25
Pontine Tegmentum8.45 ± 0.27
Striatum8.63 ± 0.21
Subthalamus8.71 ± 0.04
Temporal Lobe8.44 ± 0.27
Thalamus8.36 ± 0.21
White Matter9.16 ± 0.08
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Spg21CBCerebellum13.97
17.9
Spg21CTXCerebral cortex24.52
18.11
Spg21HIPHippocampal region25.69
35.06
Spg21HPFHippocampal formation20.55
24.16
Spg21HYHypothalamus3.77
2.86
Spg21LSXLateral septal complex34.42
29.87
Spg21MBMidbrain7.32
6.7
Spg21MYMedulla8.59
9.43
Spg21OLFOlfactory bulb17.05
13
Spg21PPons6.32
6.53
Spg21PALPallidum8.94
8.46
Spg21RHPRetrohippocampal region13.3
11
Spg21sAMYStriatum-like amygdalar nuclei21.61
20.17
Spg21STRStriatum23.16
17.31
Spg21STRdStriatum dorsal region21.73
15.75
Spg21STRvStriatum ventral region24.06
15.65
Spg21THThalamus6.55
6.87
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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