AutismKB 2.0

Annotation Detail for SPTBN5


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Basic Information Top
Gene Symbol:SPTBN5 ( BSPECV,HUBSPECV,HUSPECV )
Gene Full Name: spectrin, beta, non-erythrocytic 5
Band: 15q21
Quick LinksEntrez ID:51332; OMIM: 605916; Uniprot ID:SPTN5_HUMAN; ENSEMBL ID: ENSG00000137877; HGNC ID: 15680
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 body0 / 707610 
blastocyst0 / 623190 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal47 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye17 / 21105480
heart4 / 8962644
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220067_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.85
Adipocyte10.45
AdrenalCortex10.95
Adrenalgland9
Amygdala11.05
Appendix11.25
AtrioventricularNode10.25
BDCA4+_DentriticCells6.9
Bonemarrow10.25
BronchialEpithelialCells8.7
CD105+_Endothelial8.15
CD14+_Monocytes9.7
CD19+_BCells(neg._sel.)8.2
CD33+_Myeloid11.1
CD34+8.55
CD4+_Tcells10.95
CD56+_NKCells7.7
CD71+_EarlyErythroid9.5
CD8+_Tcells7.8
CardiacMyocytes13.4
Caudatenucleus10.1
Cerebellum9.8
CerebellumPeduncles12.8
CiliaryGanglion7.65
CingulateCortex10.85
Colorectaladenocarcinoma9.25
DorsalRootGanglion15.75
FetalThyroid10.25
Fetalbrain11.25
Fetalliver9.1
Fetallung8.8
GlobusPallidus8.8
Heart13.9
Hypothalamus11.5
Kidney8.85
Leukemia_chronicMyelogenousK-5629.5
Leukemia_promyelocytic-HL-609.3
Leukemialymphoblastic(MOLT-4)9.05
Liver13.75
Lung12.1
Lymphnode9.15
Lymphoma_burkitts(Daudi)13.45
Lymphoma_burkitts(Raji)14.6
MedullaOblongata9.65
OccipitalLobe9.45
OlfactoryBulb19.25
Ovary7.1
Pancreas9.1
PancreaticIslet11.5
ParietalLobe13.3
Pituitary12.3
Placenta10.9
Pons10.1
PrefrontalCortex14.85
Prostate12.3
Salivarygland8.4
SkeletalMuscle11.9
Skin8.45
SmoothMuscle11.65
Spinalcord17.1
SubthalamicNucleus9.7
SuperiorCervicalGanglion11.8
TemporalLobe9.6
Testis9.05
TestisGermCell8.85
TestisIntersitial8.9
TestisLeydigCell10.5
TestisSeminiferousTubule9.55
Thalamus10.95
Thymus8.35
Thyroid12.7
Tongue10.25
Tonsil10.25
Trachea10.2
TrigeminalGanglion10.45
Uterus8.2
UterusCorpus9.35
WholeBlood11.35
Wholebrain9
colon10.45
pineal_day13.16
pineal_night12.84
retina13.6
small_intestine9.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5572_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
Amygdala2.49 ± 1.16
Basal Forebrain2 ± 0.37
Basal Part of Pons2.11 ± 0.88
Cerebellar Cortex3.04 ± 0.55
Cerebellar Nuclei2.29 ± 0.78
Claustrum2.76 ± 0.74
Epithalamus2.44 ± 0.82
Frontal Lobe2.47 ± 0.77
Globus Pallidus1.44 ± 0.48
Hypothalamus2.21 ± 0.74
Insula2.2 ± 0.79
Limbic Lobe2.08 ± 0.81
Mesencephalon2.43 ± 0.81
Myelencephalon2.21 ± 0.74
Occipital Lobe2.26 ± 0.62
Parietal Lobe2.35 ± 0.83
Pontine Tegmentum2.23 ± 0.79
Striatum1.23 ± 0.61
Subthalamus2.53 ± 0.97
Temporal Lobe1.95 ± 0.67
Thalamus2.06 ± 0.78
White Matter1.28 ± 0.51
Mouse Brain ISH
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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