AutismKB 2.0

Annotation Detail for SPTB


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Basic Information Top
Gene Symbol:SPTB ( EL3,HS2,HSPTB1,SPH2 )
Gene Full Name: spectrin, beta, erythrocytic
Band: 14q23.3
Quick LinksEntrez ID:6710; OMIM: 182870; Uniprot ID:SPTB1_HUMAN; ENSEMBL ID: ENSG00000070182; HGNC ID: 11274
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 body1 / 7076114
blastocyst1 / 6231916
fetus23 / 56401240
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult36 / 193912118
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 tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain37 / 110098933
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye9 / 21105442
heart3 / 8962633
intestine1 / 2344724
kidney0 / 2117770 
larynx2 / 2414582
liver3 / 20774314
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth3 / 6705244
muscle7 / 10771564
nerve2 / 15768126
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate7 / 18934536
salivary gland0 / 201550 
skin0 / 2105740 
spleen4 / 5395274
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214145_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.55
Adipocyte7.55
AdrenalCortex8.05
Adrenalgland6.35
Amygdala10.85
Appendix8
AtrioventricularNode6.05
BDCA4+_DentriticCells8.9
Bonemarrow7.4
BronchialEpithelialCells7.45
CD105+_Endothelial10.3
CD14+_Monocytes8.8
CD19+_BCells(neg._sel.)8.3
CD33+_Myeloid15.2
CD34+10.6
CD4+_Tcells8.45
CD56+_NKCells9.05
CD71+_EarlyErythroid10.8
CD8+_Tcells7.5
CardiacMyocytes9.55
Caudatenucleus12.2
Cerebellum20.3
CerebellumPeduncles74.9
CiliaryGanglion6.95
CingulateCortex8.05
Colorectaladenocarcinoma7.65
DorsalRootGanglion6.7
FetalThyroid7.45
Fetalbrain8.15
Fetalliver6.35
Fetallung5.9
GlobusPallidus6.35
Heart9.45
Hypothalamus8.25
Kidney6.05
Leukemia_chronicMyelogenousK-5626.85
Leukemia_promyelocytic-HL-606.75
Leukemialymphoblastic(MOLT-4)5.9
Liver8.5
Lung8.3
Lymphnode6.25
Lymphoma_burkitts(Daudi)9.7
Lymphoma_burkitts(Raji)10.7
MedullaOblongata7.1
OccipitalLobe6.9
OlfactoryBulb6
Ovary5.15
Pancreas6.1
PancreaticIslet8.6
ParietalLobe8.65
Pituitary9
Placenta7.2
Pons9.9
PrefrontalCortex22.25
Prostate8.65
Salivarygland6.5
SkeletalMuscle226.85
Skin7.65
SmoothMuscle8.7
Spinalcord8.15
SubthalamicNucleus7.45
SuperiorCervicalGanglion8.75
TemporalLobe7
Testis6.5
TestisGermCell6.4
TestisIntersitial6.35
TestisLeydigCell7.65
TestisSeminiferousTubule6.55
Thalamus8.4
Thymus4.45
Thyroid9.5
Tongue9
Tonsil7.4
Trachea6.35
TrigeminalGanglion8.45
Uterus6.2
UterusCorpus6.75
WholeBlood8.3
Wholebrain6.55
colon7.65
pineal_day12.16
pineal_night9.58
retina9.2
small_intestine7.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11989_PI416261804
  • 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
Amygdala10.51 ± 0.32
Basal Forebrain10.36 ± 0.28
Basal Part of Pons10.53 ± 0.26
Cerebellar Cortex10.02 ± 0.16
Cerebellar Nuclei10.28 ± 0.34
Claustrum10.92 ± 0.25
Epithalamus10.01 ± 0.39
Frontal Lobe10.37 ± 0.41
Globus Pallidus10.8 ± 0.21
Hypothalamus9.95 ± 0.45
Insula10.41 ± 0.28
Limbic Lobe10.53 ± 0.33
Mesencephalon10.35 ± 0.28
Myelencephalon10.41 ± 0.34
Occipital Lobe10.44 ± 0.3
Parietal Lobe10.41 ± 0.34
Pontine Tegmentum10.26 ± 0.36
Striatum10.51 ± 0.37
Subthalamus10.03 ± 0.43
Temporal Lobe10.43 ± 0.39
Thalamus10.53 ± 0.25
White Matter10.48 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Spnb1CBCerebellum12.77
23.87
Spnb1CTXCerebral cortex5.3
3.74
Spnb1HIPHippocampal region5.66
5.02
Spnb1HPFHippocampal formation5.81
4.71
Spnb1HYHypothalamus0.41
0.32
Spnb1LSXLateral septal complex0.45
0.55
Spnb1MBMidbrain0.81
0.92
Spnb1MYMedulla3.13
3.04
Spnb1OLFOlfactory bulb14.36
11.83
Spnb1PPons1.66
1.77
Spnb1PALPallidum0.49
0.29
Spnb1RHPRetrohippocampal region6.07
4.31
Spnb1sAMYStriatum-like amygdalar nuclei5.27
3.54
Spnb1STRStriatum2.14
1.49
Spnb1STRdStriatum dorsal region1.56
0.97
Spnb1STRvStriatum ventral region3.1
2.36
Spnb1THThalamus0.8
0.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003514 10 215 224 HRPDLIDFDK Peptide Atlas
SPTB1_HUMAN_2 17 2 18 TSATEFENVGNQPPYSR PRIDE
SPTB1_HUMAN_417 9 417 425 QEKLEQLAR 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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