AutismKB 2.0

Annotation Detail for OBSL1


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Basic Information Top
Gene Symbol:OBSL1 ( KIAA0657,MGC71026 )
Gene Full Name: obscurin-like 1
Band: 2q35
Quick LinksEntrez ID:23363; OMIM: 610991; Uniprot ID:A4KVA4_HUMAN; ENSEMBL ID: ENSG00000124006; HGNC ID: 29092
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 body11 / 70761155
blastocyst10 / 62319160
fetus30 / 56401253
neonate0 / 310970 
infant4 / 23620169
juvenile1 / 5555617
adult160 / 193912182
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) tumor19 / 94178201
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor20 / 26384575
glioma12 / 106883112
head and neck tumor13 / 13630295
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor18 / 96359186
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal226 / 336030767
ovarian tumor17 / 76682221
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer6 / 10268058
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone7 / 7165597
bone marrow2 / 4880140
brain65 / 110098959
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue28 / 215722129
esophagus0 / 202090 
eye21 / 21105499
heart7 / 8962678
intestine7 / 23447229
kidney13 / 21177761
larynx1 / 2414541
liver19 / 20774391
lung23 / 33697468
lymph0 / 442700 
lymph node0 / 916100 
mammary gland20 / 153271130
mouth2 / 6705229
muscle7 / 10771564
nerve0 / 157680 
ovary25 / 102051244
pancreas22 / 214812102
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta27 / 28082596
prostate10 / 18934552
salivary gland1 / 2015549
skin8 / 21057437
spleen0 / 539520 
stomach2 / 9661920
testis36 / 330442108
thymus1 / 8113112
thyroid11 / 47473231
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus20 / 23287885
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212776_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.25
Adipocyte3.65
AdrenalCortex3.85
Adrenalgland2.9
Amygdala3.65
Appendix3.4
AtrioventricularNode2.6
BDCA4+_DentriticCells8.85
Bonemarrow3.35
BronchialEpithelialCells3.35
CD105+_Endothelial3.45
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)3.65
CD33+_Myeloid4.4
CD34+4.45
CD4+_Tcells3.7
CD56+_NKCells4.1
CD71+_EarlyErythroid3.2
CD8+_Tcells3.3
CardiacMyocytes4.3
Caudatenucleus3.05
Cerebellum2.8
CerebellumPeduncles3.85
CiliaryGanglion2.35
CingulateCortex3.5
Colorectaladenocarcinoma74.65
DorsalRootGanglion2.6
FetalThyroid5.5
Fetalbrain3.4
Fetalliver2.95
Fetallung4.15
GlobusPallidus2.5
Heart4.3
Hypothalamus3.8
Kidney2.75
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.75
Liver4.55
Lung3.85
Lymphnode2.95
Lymphoma_burkitts(Daudi)4.3
Lymphoma_burkitts(Raji)4.75
MedullaOblongata3.1
OccipitalLobe3.05
OlfactoryBulb2.7
Ovary11.75
Pancreas2.75
PancreaticIslet3.7
ParietalLobe3.55
Pituitary4
Placenta10.85
Pons3.25
PrefrontalCortex4.3
Prostate4.25
Salivarygland2.7
SkeletalMuscle3.9
Skin2.6
SmoothMuscle3.9
Spinalcord3.6
SubthalamicNucleus3.1
SuperiorCervicalGanglion3.8
TemporalLobe3.1
Testis3
TestisGermCell3.2
TestisIntersitial2.9
TestisLeydigCell3.35
TestisSeminiferousTubule2.95
Thalamus3.45
Thymus2.7
Thyroid173.5
Tongue3.3
Tonsil3.25
Trachea2.9
TrigeminalGanglion3.3
Uterus3.6
UterusCorpus3.05
WholeBlood3.7
Wholebrain3
colon3.4
pineal_day5.24
pineal_night4.24
retina5.025
small_intestine3.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P300484
  • 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
Amygdala5.26 ± 0.46
Basal Forebrain5.47 ± 0.25
Basal Part of Pons5.6 ± 0.53
Cerebellar Cortex6.04 ± 0.32
Cerebellar Nuclei5.36 ± 0.37
Claustrum5.23 ± 0.69
Epithalamus6.14 ± 0.53
Frontal Lobe5.75 ± 0.46
Globus Pallidus5.12 ± 0.23
Hypothalamus5.69 ± 0.63
Insula5.76 ± 0.37
Limbic Lobe5.49 ± 0.47
Mesencephalon5.55 ± 0.52
Myelencephalon5.59 ± 0.52
Occipital Lobe5.3 ± 0.51
Parietal Lobe5.59 ± 0.46
Pontine Tegmentum5.51 ± 0.45
Striatum4.83 ± 0.39
Subthalamus5.78 ± 0.93
Temporal Lobe5.76 ± 0.38
Thalamus5.73 ± 0.46
White Matter3.83 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AW822216CBCerebellum0.56
0.97
AW822216CTXCerebral cortex0.08
0.14
AW822216HIPHippocampal region0.21
0.24
AW822216HPFHippocampal formation0.15
0.16
AW822216HYHypothalamus0.06
0.07
AW822216LSXLateral septal complex0.21
0.2
AW822216MBMidbrain0.05
0.11
AW822216MYMedulla0.22
0.26
AW822216OLFOlfactory bulb0.13
0.16
AW822216PPons0.09
0.12
AW822216PALPallidum0.01
0
AW822216RHPRetrohippocampal region0.03
0
AW822216sAMYStriatum-like amygdalar nuclei0
0
AW822216STRStriatum0.07
0.09
AW822216STRdStriatum dorsal region0.07
0.1
AW822216STRvStriatum ventral region0.03
0.12
AW822216THThalamus0.03
0.02
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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