AutismKB 2.0

Annotation Detail for SPG20


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Basic Information Top
Gene Symbol:SPG20 ( KIAA0610,SPARTIN,TAHCCP1 )
Gene Full Name: spastic paraplegia 20 (Troyer syndrome)
Band: 13q13.3
Quick LinksEntrez ID:23111; OMIM: 607111; Uniprot ID:SPG20_HUMAN; ENSEMBL ID: ENSG00000133104; HGNC ID:
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
blastocyst9 / 62319144
fetus35 / 56401262
neonate6 / 31097192
infant0 / 236200 
juvenile6 / 55556107
adult161 / 193912183
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor0 / 1142460 
esophageal tumor3 / 17290173
gastrointestinal tumor2 / 11936916
germ cell tumor37 / 263845140
glioma4 / 10688337
head and neck tumor6 / 13630244
kidney tumor5 / 6895972
leukemia7 / 9584273
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal315 / 336030793
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood7 / 12347856
bone3 / 7165541
bone marrow5 / 48801102
brain132 / 1100989119
cervix0 / 481710 
connective tissue6 / 14925540
ear2 / 16212123
embryonic tissue20 / 21572292
esophagus3 / 20209148
eye33 / 211054156
heart2 / 8962622
intestine1 / 2344724
kidney21 / 21177799
larynx4 / 24145165
liver8 / 20774338
lung17 / 33697450
lymph0 / 442700 
lymph node0 / 916100 
mammary gland11 / 15327171
mouth1 / 6705214
muscle6 / 10771555
nerve1 / 1576863
ovary4 / 10205139
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta31 / 280825110
prostate10 / 18934552
salivary gland1 / 2015549
skin14 / 21057466
spleen4 / 5395274
stomach4 / 9661941
testis38 / 330442114
thymus6 / 8113173
thyroid3 / 4747363
tonsil0 / 169990 
trachea10 / 52413190
umbilical cord0 / 136800 
uterus21 / 23287890
vascular14 / 51780270
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212526_at
Cell line Expression level Expression bar
721_B_lymphoblasts44.05
Adipocyte18.6
AdrenalCortex12.95
Adrenalgland12.1
Amygdala53.35
Appendix18.15
AtrioventricularNode16.4
BDCA4+_DentriticCells19.3
Bonemarrow15.45
BronchialEpithelialCells14.9
CD105+_Endothelial25.25
CD14+_Monocytes16.75
CD19+_BCells(neg._sel.)12.85
CD33+_Myeloid21.55
CD34+49.8
CD4+_Tcells15.25
CD56+_NKCells18.55
CD71+_EarlyErythroid16.25
CD8+_Tcells10.25
CardiacMyocytes20.95
Caudatenucleus19.95
Cerebellum10.5
CerebellumPeduncles14.75
CiliaryGanglion10.1
CingulateCortex13.6
Colorectaladenocarcinoma10.55
DorsalRootGanglion13.7
FetalThyroid11.1
Fetalbrain10.7
Fetalliver17.15
Fetallung12
GlobusPallidus11.45
Heart22.4
Hypothalamus30.2
Kidney9.65
Leukemia_chronicMyelogenousK-56212.2
Leukemia_promyelocytic-HL-608.55
Leukemialymphoblastic(MOLT-4)7.45
Liver23.1
Lung11.8
Lymphnode12.9
Lymphoma_burkitts(Daudi)12.55
Lymphoma_burkitts(Raji)14.2
MedullaOblongata14.05
OccipitalLobe13.15
OlfactoryBulb18
Ovary22.8
Pancreas9.3
PancreaticIslet14.85
ParietalLobe16.75
Pituitary37.9
Placenta12.9
Pons11.15
PrefrontalCortex18.15
Prostate13.75
Salivarygland11.4
SkeletalMuscle12.6
Skin13.45
SmoothMuscle14.6
Spinalcord42.7
SubthalamicNucleus13.6
SuperiorCervicalGanglion15.6
TemporalLobe12.05
Testis10.05
TestisGermCell12.5
TestisIntersitial12.7
TestisLeydigCell14.55
TestisSeminiferousTubule10.1
Thalamus16.45
Thymus6.9
Thyroid35.4
Tongue14.1
Tonsil9.3
Trachea10.75
TrigeminalGanglion19.2
Uterus82.9
UterusCorpus9.35
WholeBlood14.15
Wholebrain10.95
colon17.1
pineal_day54
pineal_night46.26
retina29.825
small_intestine13.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P12430
  • 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
Amygdala5.71 ± 0.46
Basal Forebrain6.14 ± 0.17
Basal Part of Pons6.1 ± 0.4
Cerebellar Cortex6.25 ± 0.24
Cerebellar Nuclei6.46 ± 0.22
Claustrum5.4 ± 0.71
Epithalamus6.57 ± 0.52
Frontal Lobe6.12 ± 0.47
Globus Pallidus6.57 ± 0.36
Hypothalamus6.29 ± 0.48
Insula6.14 ± 0.24
Limbic Lobe5.83 ± 0.42
Mesencephalon6.1 ± 0.53
Myelencephalon6.09 ± 0.45
Occipital Lobe6.06 ± 0.44
Parietal Lobe6.13 ± 0.43
Pontine Tegmentum6.21 ± 0.44
Striatum6.17 ± 0.44
Subthalamus6.66 ± 0.17
Temporal Lobe6.03 ± 0.43
Thalamus6.15 ± 0.36
White Matter7.31 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Spg20CBCerebellum8.6
13.13
Spg20CTXCerebral cortex25.84
19.99
Spg20HIPHippocampal region19.02
26.63
Spg20HPFHippocampal formation15.6
19.22
Spg20HYHypothalamus10.05
9.44
Spg20LSXLateral septal complex9.16
6.69
Spg20MBMidbrain7.41
8.8
Spg20MYMedulla6.21
10.14
Spg20OLFOlfactory bulb24.51
19.08
Spg20PPons7.27
11.09
Spg20PALPallidum15.4
14.18
Spg20RHPRetrohippocampal region8.52
7.22
Spg20sAMYStriatum-like amygdalar nuclei5.72
4.21
Spg20STRStriatum15.62
11.92
Spg20STRdStriatum dorsal region19.11
14.83
Spg20STRvStriatum ventral region13.45
9.79
Spg20THThalamus15.51
14.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009869 24 391 414 DTSSEEVNLSHIVPCEPVPEEKPK Peptide Atlas
SPG20_HUMAN_1 17 1 17 MEQEPQNGEPAEIKIIR PRIDE
SPG20_HUMAN_76 14 76 89 QMQQKMKETLQNVR 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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