AutismKB 2.0

Annotation Detail for SPEN


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Basic Information Top
Gene Symbol:SPEN ( HIAA0929,KIAA0929,MINT,RBM15C,SHARP )
Gene Full Name: spen homolog, transcriptional regulator (Drosophila)
Band: 1p36.21-p36.13
Quick LinksEntrez ID:23013; OMIM: 613484; Uniprot ID:MINT_HUMAN; ENSEMBL ID: ENSG00000065526; HGNC ID: 17575
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 body8 / 70761113
blastocyst4 / 6231964
fetus64 / 564012113
neonate2 / 3109764
infant1 / 2362042
juvenile5 / 5555689
adult165 / 193912185
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) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor9 / 13630266
kidney tumor4 / 6895958
leukemia9 / 9584293
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal242 / 336030772
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
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
blood7 / 12347856
bone11 / 71655153
bone marrow3 / 4880161
brain33 / 110098929
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye14 / 21105466
heart3 / 8962633
intestine19 / 23447281
kidney8 / 21177737
larynx0 / 241450 
liver14 / 20774367
lung18 / 33697453
lymph2 / 4427045
lymph node33 / 91610360
mammary gland19 / 153271123
mouth4 / 6705259
muscle7 / 10771564
nerve4 / 15768253
ovary4 / 10205139
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta10 / 28082535
prostate11 / 18934558
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach9 / 9661993
testis6 / 33044218
thymus0 / 811310 
thyroid6 / 47473126
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201996_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.5
Adipocyte5.5
AdrenalCortex6.05
Adrenalgland4.8
Amygdala5.8
Appendix5.7
AtrioventricularNode4.4
BDCA4+_DentriticCells20.05
Bonemarrow5.7
BronchialEpithelialCells5.4
CD105+_Endothelial49.95
CD14+_Monocytes7.45
CD19+_BCells(neg._sel.)14.7
CD33+_Myeloid52.15
CD34+29.7
CD4+_Tcells6.4
CD56+_NKCells32
CD71+_EarlyErythroid5.45
CD8+_Tcells6.3
CardiacMyocytes7.45
Caudatenucleus5.05
Cerebellum6.3
CerebellumPeduncles6.5
CiliaryGanglion4.15
CingulateCortex5.7
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.5
FetalThyroid10.2
Fetalbrain8.4
Fetalliver5.05
Fetallung4.65
GlobusPallidus4.25
Heart7.45
Hypothalamus5.8
Kidney4.65
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-605
Leukemialymphoblastic(MOLT-4)5.8
Liver7.9
Lung6.15
Lymphnode4.9
Lymphoma_burkitts(Daudi)7.2
Lymphoma_burkitts(Raji)8.05
MedullaOblongata10.6
OccipitalLobe4.75
OlfactoryBulb5.25
Ovary3.75
Pancreas4.55
PancreaticIslet6
ParietalLobe6.05
Pituitary6.55
Placenta5.25
Pons5.35
PrefrontalCortex9.45
Prostate13.25
Salivarygland4.45
SkeletalMuscle7.65
Skin5.2
SmoothMuscle5.8
Spinalcord5.95
SubthalamicNucleus5.15
SuperiorCervicalGanglion7.85
TemporalLobe6.05
Testis4.8
TestisGermCell4.35
TestisIntersitial4.35
TestisLeydigCell5.45
TestisSeminiferousTubule4.7
Thalamus5.55
Thymus14.45
Thyroid7.35
Tongue5.6
Tonsil6.35
Trachea4.75
TrigeminalGanglion5.75
Uterus15.85
UterusCorpus5.1
WholeBlood10.1
Wholebrain4.95
colon5.95
pineal_day6.92
pineal_night6.94
retina6.45
small_intestine7.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P170660
  • 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
Amygdala6.35 ± 0.3
Basal Forebrain6.37 ± 0.22
Basal Part of Pons6.09 ± 0.25
Cerebellar Cortex6.47 ± 0.18
Cerebellar Nuclei6.3 ± 0.38
Claustrum6.1 ± 0.39
Epithalamus6.37 ± 0.27
Frontal Lobe5.99 ± 0.34
Globus Pallidus6.38 ± 0.46
Hypothalamus5.99 ± 0.24
Insula5.95 ± 0.33
Limbic Lobe6.09 ± 0.35
Mesencephalon6.03 ± 0.4
Myelencephalon6.12 ± 0.37
Occipital Lobe6.47 ± 0.3
Parietal Lobe6.23 ± 0.33
Pontine Tegmentum6.15 ± 0.38
Striatum5.92 ± 0.3
Subthalamus6.31 ± 0.07
Temporal Lobe6.13 ± 0.28
Thalamus6.1 ± 0.36
White Matter7.08 ± 0.04
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009786 23 1065 1087 DCQELASISVGSGSRPSSDLQAR 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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