AutismKB 2.0

Annotation Detail for COBLL1


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Basic Information Top
Gene Symbol:COBLL1 ( COBLR1,KIAA0977 )
Gene Full Name: COBL-like 1
Band: 2q24.3
Quick LinksEntrez ID:22837; OMIM: 610318; Uniprot ID:COBL1_HUMAN; ENSEMBL ID: ENSG00000082438; HGNC ID: 23571
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
blastocyst0 / 623190 
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult164 / 193912184
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor13 / 13630295
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal236 / 336030770
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow2 / 4880140
brain20 / 110098918
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye8 / 21105437
heart0 / 896260 
intestine3 / 23447212
kidney23 / 211777108
larynx0 / 241450 
liver12 / 20774357
lung8 / 33697423
lymph0 / 442700 
lymph node16 / 91610174
mammary gland10 / 15327165
mouth11 / 67052164
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta97 / 280825345
prostate16 / 18934584
salivary gland1 / 2015549
skin3 / 21057414
spleen1 / 5395218
stomach3 / 9661931
testis9 / 33044227
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus11 / 23287847
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215393_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.6
Adipocyte4.15
AdrenalCortex5.1
Adrenalgland3.7
Amygdala4.25
Appendix4.4
AtrioventricularNode3.5
BDCA4+_DentriticCells4.8
Bonemarrow4.35
BronchialEpithelialCells4.05
CD105+_Endothelial4.05
CD14+_Monocytes4.45
CD19+_BCells(neg._sel.)4.5
CD33+_Myeloid5.35
CD34+4.95
CD4+_Tcells4.15
CD56+_NKCells4.8
CD71+_EarlyErythroid4.1
CD8+_Tcells3.9
CardiacMyocytes6.15
Caudatenucleus3.8
Cerebellum3.5
CerebellumPeduncles4.9
CiliaryGanglion3.75
CingulateCortex4.55
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.95
FetalThyroid4.3
Fetalbrain3.95
Fetalliver3.75
Fetallung3.3
GlobusPallidus3.25
Heart6.05
Hypothalamus4.55
Kidney3.9
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.45
Liver5.9
Lung4.6
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.45
Lymphoma_burkitts(Raji)6.25
MedullaOblongata3.85
OccipitalLobe3.8
OlfactoryBulb3.3
Ovary3.25
Pancreas3.6
PancreaticIslet4.55
ParietalLobe4.55
Pituitary4.95
Placenta4.4
Pons4.05
PrefrontalCortex5.2
Prostate4.9
Salivarygland3.55
SkeletalMuscle6.45
Skin3.5
SmoothMuscle4.75
Spinalcord4.55
SubthalamicNucleus3.9
SuperiorCervicalGanglion15.7
TemporalLobe3.95
Testis3.6
TestisGermCell3.4
TestisIntersitial3.65
TestisLeydigCell4.35
TestisSeminiferousTubule3.6
Thalamus4.35
Thymus3.2
Thyroid5.2
Tongue4.35
Tonsil4.15
Trachea3.5
TrigeminalGanglion5.15
Uterus3.35
UterusCorpus4.05
WholeBlood4.55
Wholebrain3.45
colon4.2
pineal_day5.1
pineal_night5.02
retina5.05
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4902_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
Amygdala7.25 ± 0.4
Basal Forebrain7.26 ± 0.37
Basal Part of Pons6.98 ± 0.24
Cerebellar Cortex6.74 ± 0.34
Cerebellar Nuclei8.22 ± 0.39
Claustrum7.48 ± 0.59
Epithalamus7.18 ± 0.31
Frontal Lobe7.08 ± 0.5
Globus Pallidus8.41 ± 0.28
Hypothalamus7.04 ± 0.42
Insula7.1 ± 0.47
Limbic Lobe7.28 ± 0.71
Mesencephalon7.62 ± 0.5
Myelencephalon7.45 ± 0.56
Occipital Lobe7.91 ± 0.5
Parietal Lobe7.41 ± 0.5
Pontine Tegmentum7.47 ± 0.55
Striatum7.78 ± 0.58
Subthalamus8.09 ± 0.27
Temporal Lobe7.29 ± 0.49
Thalamus7.5 ± 0.42
White Matter7.66 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cobll1CBCerebellum1.41
1.65
Cobll1CTXCerebral cortex1.16
1.21
Cobll1HIPHippocampal region0.56
0.85
Cobll1HPFHippocampal formation3.62
3.7
Cobll1HYHypothalamus0.08
0.25
Cobll1LSXLateral septal complex0.13
0.19
Cobll1MBMidbrain0.39
0.46
Cobll1MYMedulla0.86
0.93
Cobll1OLFOlfactory bulb1.17
0.78
Cobll1PPons0.44
0.48
Cobll1PALPallidum0.16
0.1
Cobll1RHPRetrohippocampal region9.31
8.11
Cobll1sAMYStriatum-like amygdalar nuclei0.31
0.44
Cobll1STRStriatum0.33
0.31
Cobll1STRdStriatum dorsal region0.42
0.37
Cobll1STRvStriatum ventral region0.17
0.17
Cobll1THThalamus0.49
0.48
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024367 12 180 191 CEFDPLHTLLLK 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