AutismKB 2.0

Annotation Detail for SPG7


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Basic Information Top
Gene Symbol:SPG7 ( CAR,CMAR,FLJ37308,MGC126331,MGC126332,PGN,SPG5C )
Gene Full Name: spastic paraplegia 7 (pure and complicated autosomal recessive)
Band: 16q24.3
Quick LinksEntrez ID:6687; OMIM: 602783; Uniprot ID:SPG7_HUMAN; ENSEMBL ID: ENSG00000197912; HGNC ID: 11237
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 body10 / 70761141
blastocyst10 / 62319160
fetus34 / 56401260
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult185 / 193912195
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) tumor13 / 94178138
cervical tumor0 / 343660 
chondrosarcoma17 / 82823205
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor22 / 26384583
glioma11 / 106883102
head and neck tumor10 / 13630273
kidney tumor10 / 68959145
leukemia9 / 9584293
liver tumor9 / 9635993
lung tumor9 / 10312787
lymphoma6 / 7175583
non-neoplasia5 / 9725051
normal271 / 336030780
ovarian tumor3 / 7668239
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer10 / 10268097
retinoblastoma4 / 4635686
skin tumor21 / 124949168
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites6 / 40015149
bladder2 / 2975767
blood5 / 12347840
bone7 / 7165597
bone marrow1 / 4880120
brain72 / 110098965
cervix0 / 481710 
connective tissue11 / 14925573
ear2 / 16212123
embryonic tissue25 / 215722115
esophagus0 / 202090 
eye15 / 21105471
heart12 / 89626133
intestine21 / 23447289
kidney16 / 21177775
larynx4 / 24145165
liver19 / 20774391
lung39 / 336974115
lymph0 / 442700 
lymph node6 / 9161065
mammary gland19 / 153271123
mouth2 / 6705229
muscle8 / 10771574
nerve3 / 15768190
ovary15 / 102051146
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland2 / 16585120
placenta16 / 28082556
prostate16 / 18934584
salivary gland1 / 2015549
skin74 / 210574351
spleen5 / 5395292
stomach11 / 96619113
testis26 / 33044278
thymus3 / 8113136
thyroid5 / 47473105
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus23 / 23287898
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214494_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts123.95
Adipocyte64.5
AdrenalCortex122.4
Adrenalgland95.3
Amygdala179.85
Appendix64.25
AtrioventricularNode32
BDCA4+_DentriticCells174.6
Bonemarrow56.85
BronchialEpithelialCells51.05
CD105+_Endothelial111.7
CD14+_Monocytes160.5
CD19+_BCells(neg._sel.)174.5
CD33+_Myeloid243.65
CD34+318.05
CD4+_Tcells551.7
CD56+_NKCells202.7
CD71+_EarlyErythroid61.65
CD8+_Tcells605.35
CardiacMyocytes74.4
Caudatenucleus101.95
Cerebellum90.95
CerebellumPeduncles115.15
CiliaryGanglion37
CingulateCortex140.95
Colorectaladenocarcinoma102.4
DorsalRootGanglion45.9
FetalThyroid331.95
Fetalbrain161.7
Fetalliver40.15
Fetallung88.9
GlobusPallidus86.65
Heart147.1
Hypothalamus210.95
Kidney60.35
Leukemia_chronicMyelogenousK-562153.95
Leukemia_promyelocytic-HL-6047.9
Leukemialymphoblastic(MOLT-4)107.1
Liver196.5
Lung148.6
Lymphnode171.1
Lymphoma_burkitts(Daudi)68.05
Lymphoma_burkitts(Raji)116.25
MedullaOblongata113.7
OccipitalLobe123.25
OlfactoryBulb55.6
Ovary56.45
Pancreas76.3
PancreaticIslet93.25
ParietalLobe104.05
Pituitary90.4
Placenta57.9
Pons90
PrefrontalCortex373.8
Prostate201.05
Salivarygland59.85
SkeletalMuscle61.25
Skin45.25
SmoothMuscle61.55
Spinalcord103.8
SubthalamicNucleus110.9
SuperiorCervicalGanglion33.45
TemporalLobe76.65
Testis102.55
TestisGermCell152.65
TestisIntersitial133.5
TestisLeydigCell99
TestisSeminiferousTubule133.8
Thalamus130.9
Thymus125.2
Thyroid455.35
Tongue102.95
Tonsil100.3
Trachea36.95
TrigeminalGanglion58
Uterus140.6
UterusCorpus59.2
WholeBlood56.35
Wholebrain219.6
colon88.15
pineal_day321.9
pineal_night226.76
retina170.025
small_intestine67.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P5305
  • 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
Amygdala6.24 ± 0.48
Basal Forebrain5.67 ± 0.1
Basal Part of Pons5.96 ± 0.3
Cerebellar Cortex5.9 ± 0.44
Cerebellar Nuclei5.66 ± 0.46
Claustrum6.27 ± 0.62
Epithalamus5.21 ± 0.55
Frontal Lobe5.77 ± 0.43
Globus Pallidus5.86 ± 0.32
Hypothalamus5.48 ± 0.41
Insula5.74 ± 0.34
Limbic Lobe6.02 ± 0.46
Mesencephalon5.85 ± 0.43
Myelencephalon5.84 ± 0.43
Occipital Lobe5.92 ± 0.39
Parietal Lobe5.84 ± 0.31
Pontine Tegmentum5.65 ± 0.4
Striatum5.6 ± 0.39
Subthalamus5.73 ± 0.21
Temporal Lobe5.82 ± 0.44
Thalamus5.75 ± 0.35
White Matter5.59 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Spg7CBCerebellum1.23
1.67
Spg7CTXCerebral cortex1.94
2.67
Spg7HIPHippocampal region1.09
1.65
Spg7HPFHippocampal formation1.45
1.9
Spg7HYHypothalamus0.28
0.26
Spg7LSXLateral septal complex0.28
0.26
Spg7MBMidbrain0.8
0.97
Spg7MYMedulla1.75
2
Spg7OLFOlfactory bulb1.49
1.76
Spg7PPons1.16
1.11
Spg7PALPallidum0.8
1.64
Spg7RHPRetrohippocampal region2.04
2.16
Spg7sAMYStriatum-like amygdalar nuclei1.38
1.85
Spg7STRStriatum0.65
0.9
Spg7STRdStriatum dorsal region0.69
0.97
Spg7STRvStriatum ventral region0.28
0.31
Spg7THThalamus0.47
0.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SPG7_HUMAN_226 15 226 240 LRAAEDELNIEAKDR 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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