AutismKB 2.0

Annotation Detail for SPTBN4


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Basic Information Top
Gene Symbol:SPTBN4 ( KIAA1642,QV,SPNB4,SPTBN3 )
Gene Full Name: spectrin, beta, non-erythrocytic 4
Band: 19q13.13
Quick LinksEntrez ID:57731; OMIM: 606214; Uniprot ID:SPTN4_HUMAN; ENSEMBL ID: ENSG00000160460; HGNC ID: 14896
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 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult16 / 19391218
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal39 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain23 / 110098920
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220185_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.85
Adipocyte23.4
AdrenalCortex39.65
Adrenalgland21.85
Amygdala25.6
Appendix22.5
AtrioventricularNode24.6
BDCA4+_DentriticCells14.95
Bonemarrow27.25
BronchialEpithelialCells11
CD105+_Endothelial18.3
CD14+_Monocytes17.8
CD19+_BCells(neg._sel.)16
CD33+_Myeloid25
CD34+20.75
CD4+_Tcells20
CD56+_NKCells21
CD71+_EarlyErythroid22.4
CD8+_Tcells19.2
CardiacMyocytes15.4
Caudatenucleus40.55
Cerebellum43.3
CerebellumPeduncles101.3
CiliaryGanglion21.7
CingulateCortex49.4
Colorectaladenocarcinoma13.2
DorsalRootGanglion33.95
FetalThyroid21
Fetalbrain42.05
Fetalliver17.35
Fetallung12.35
GlobusPallidus67.8
Heart28.2
Hypothalamus55.85
Kidney19.65
Leukemia_chronicMyelogenousK-56221.6
Leukemia_promyelocytic-HL-6019.7
Leukemialymphoblastic(MOLT-4)19
Liver29
Lung13.95
Lymphnode18.25
Lymphoma_burkitts(Daudi)28.8
Lymphoma_burkitts(Raji)26.05
MedullaOblongata60.3
OccipitalLobe44.55
OlfactoryBulb35.95
Ovary15.55
Pancreas19.4
PancreaticIslet27.45
ParietalLobe38.5
Pituitary29.75
Placenta19.55
Pons49.4
PrefrontalCortex60.4
Prostate18
Salivarygland20.85
SkeletalMuscle26.4
Skin32.65
SmoothMuscle19.75
Spinalcord39.5
SubthalamicNucleus49.85
SuperiorCervicalGanglion35.3
TemporalLobe55.1
Testis20.3
TestisGermCell16.15
TestisIntersitial20.05
TestisLeydigCell22.25
TestisSeminiferousTubule20.15
Thalamus74.45
Thymus14.25
Thyroid16.8
Tongue22.5
Tonsil21.65
Trachea18.05
TrigeminalGanglion23.55
Uterus13
UterusCorpus19.8
WholeBlood15.25
Wholebrain35.2
colon13
pineal_day62.52
pineal_night43.72
retina28.65
small_intestine6.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_603_PI416408490
  • 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
Amygdala4.9 ± 0.66
Basal Forebrain4.29 ± 0.33
Basal Part of Pons4.78 ± 0.58
Cerebellar Cortex4.8 ± 0.42
Cerebellar Nuclei4.03 ± 0.5
Claustrum4.55 ± 0.9
Epithalamus3.61 ± 0.79
Frontal Lobe4.03 ± 0.65
Globus Pallidus3.65 ± 0.48
Hypothalamus3.72 ± 1.03
Insula3.91 ± 0.72
Limbic Lobe4.61 ± 0.64
Mesencephalon4.2 ± 0.65
Myelencephalon4.23 ± 0.63
Occipital Lobe5.05 ± 0.68
Parietal Lobe4.38 ± 0.55
Pontine Tegmentum4.16 ± 0.63
Striatum4.45 ± 0.56
Subthalamus3.52 ± 0.51
Temporal Lobe4.25 ± 0.61
Thalamus4.14 ± 0.6
White Matter2.24 ± 0.44
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001606 11 211 221 DGLAFNALIHR 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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