AutismKB 2.0

Annotation Detail for SPTBN2


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Basic Information Top
Gene Symbol:SPTBN2 ( GTRAP41,SCA5 )
Gene Full Name: spectrin, beta, non-erythrocytic 2
Band: 11q13.2
Quick LinksEntrez ID:6712; OMIM: 604985; Uniprot ID:SPTN2_HUMAN; ENSEMBL ID: ENSG00000173898; HGNC ID: 11276
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 body5 / 7076170
blastocyst3 / 6231948
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult59 / 193912130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma3 / 10688328
head and neck tumor7 / 13630251
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal84 / 336030724
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
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 
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain40 / 110098936
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye17 / 21105480
heart0 / 896260 
intestine3 / 23447212
kidney4 / 21177718
larynx4 / 24145165
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus1 / 8113112
thyroid0 / 474730 
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: 205155_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.5
Adipocyte6.5
AdrenalCortex6.9
Adrenalgland5.65
Amygdala47.6
Appendix6.9
AtrioventricularNode5.65
BDCA4+_DentriticCells5.3
Bonemarrow6.55
BronchialEpithelialCells5.95
CD105+_Endothelial6.7
CD14+_Monocytes7.05
CD19+_BCells(neg._sel.)6.2
CD33+_Myeloid8.25
CD34+8.5
CD4+_Tcells6.65
CD56+_NKCells7.2
CD71+_EarlyErythroid6.3
CD8+_Tcells6.3
CardiacMyocytes8.6
Caudatenucleus20.8
Cerebellum50.5
CerebellumPeduncles30.35
CiliaryGanglion5.75
CingulateCortex14.55
Colorectaladenocarcinoma6.7
DorsalRootGanglion6.25
FetalThyroid6
Fetalbrain7.95
Fetalliver5.7
Fetallung3.65
GlobusPallidus6.05
Heart9.65
Hypothalamus6.45
Kidney5.75
Leukemia_chronicMyelogenousK-5625.45
Leukemia_promyelocytic-HL-605.3
Leukemialymphoblastic(MOLT-4)6
Liver10.95
Lung7.25
Lymphnode5.3
Lymphoma_burkitts(Daudi)8.7
Lymphoma_burkitts(Raji)9.45
MedullaOblongata20.7
OccipitalLobe19.85
OlfactoryBulb4.8
Ovary4.7
Pancreas5.4
PancreaticIslet7.2
ParietalLobe17.05
Pituitary7.9
Placenta5.75
Pons16.1
PrefrontalCortex161.85
Prostate8.15
Salivarygland7
SkeletalMuscle7.75
Skin5.85
SmoothMuscle5.9
Spinalcord7.05
SubthalamicNucleus17.45
SuperiorCervicalGanglion8.55
TemporalLobe20.85
Testis6.7
TestisGermCell13.8
TestisIntersitial11.65
TestisLeydigCell13.1
TestisSeminiferousTubule11.25
Thalamus7.25
Thymus5.15
Thyroid7.05
Tongue10.05
Tonsil6.45
Trachea5.6
TrigeminalGanglion6.75
Uterus4.3
UterusCorpus6
WholeBlood6.8
Wholebrain28.9
colon6.75
pineal_day10.1
pineal_night9.82
retina25.675
small_intestine5.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15540_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
Amygdala9.43 ± 0.43
Basal Forebrain8.75 ± 0.35
Basal Part of Pons9.27 ± 0.39
Cerebellar Cortex8.96 ± 0.38
Cerebellar Nuclei8.22 ± 0.71
Claustrum9.41 ± 0.57
Epithalamus7.31 ± 0.8
Frontal Lobe8.72 ± 0.54
Globus Pallidus7.56 ± 0.47
Hypothalamus8.15 ± 0.59
Insula8.86 ± 0.49
Limbic Lobe9.39 ± 0.51
Mesencephalon8.64 ± 0.62
Myelencephalon8.81 ± 0.61
Occipital Lobe9.3 ± 0.52
Parietal Lobe8.93 ± 0.6
Pontine Tegmentum8.63 ± 0.51
Striatum8.78 ± 0.42
Subthalamus8.53 ± 0.23
Temporal Lobe9 ± 0.47
Thalamus8.72 ± 0.35
White Matter6.06 ± 0.59
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000466 12 1617 1628 AKDELSAQAEVK Peptide Atlas

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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