AutismKB 2.0

Annotation Detail for CELSR2


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Basic Information Top
Gene Symbol:CELSR2 ( CDHF10,EGFL2,FLJ34118,FLJ42737,FLJ45143,FLJ45845,Flamingo1,KIAA0279,MEGF3 )
Gene Full Name: cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)
Band: 1p13.3
Quick LinksEntrez ID:1952; OMIM: 604265; Uniprot ID:CELR2_HUMAN; ENSEMBL ID: ENSG00000143126; HGNC ID: 3231
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
blastocyst3 / 6231948
fetus24 / 56401242
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult103 / 193912153
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor15 / 26384556
glioma4 / 10688337
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal195 / 336030758
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain128 / 1100989116
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye11 / 21105452
heart3 / 8962633
intestine2 / 2344728
kidney6 / 21177728
larynx1 / 2414541
liver2 / 2077439
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland23 / 153271150
mouth0 / 670520 
muscle6 / 10771555
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid5 / 20539243
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin15 / 21057471
spleen0 / 539520 
stomach2 / 9661920
testis18 / 33044254
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204029_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.9
Adipocyte3.85
AdrenalCortex3.95
Adrenalgland3.3
Amygdala111.05
Appendix3.95
AtrioventricularNode2.95
BDCA4+_DentriticCells4.35
Bonemarrow3.75
BronchialEpithelialCells3.9
CD105+_Endothelial4
CD14+_Monocytes4.15
CD19+_BCells(neg._sel.)4.2
CD33+_Myeloid5.1
CD34+5.05
CD4+_Tcells4.3
CD56+_NKCells4.75
CD71+_EarlyErythroid3.65
CD8+_Tcells3.85
CardiacMyocytes4.8
Caudatenucleus46
Cerebellum20.05
CerebellumPeduncles11
CiliaryGanglion2.7
CingulateCortex59.55
Colorectaladenocarcinoma4
DorsalRootGanglion3
FetalThyroid12.3
Fetalbrain51.2
Fetalliver3.3
Fetallung3.2
GlobusPallidus18.65
Heart4.9
Hypothalamus39.95
Kidney3.4
Leukemia_chronicMyelogenousK-5623.6
Leukemia_promyelocytic-HL-603.45
Leukemialymphoblastic(MOLT-4)3.15
Liver5.05
Lung4.35
Lymphnode3.35
Lymphoma_burkitts(Daudi)5
Lymphoma_burkitts(Raji)5.4
MedullaOblongata65.75
OccipitalLobe47.9
OlfactoryBulb18
Ovary2.6
Pancreas3.1
PancreaticIslet4.2
ParietalLobe54.9
Pituitary4.55
Placenta4
Pons25.3
PrefrontalCortex157.55
Prostate4.7
Salivarygland3.2
SkeletalMuscle4.3
Skin3
SmoothMuscle4.45
Spinalcord25.1
SubthalamicNucleus32.75
SuperiorCervicalGanglion4.4
TemporalLobe39.95
Testis6.65
TestisGermCell18.45
TestisIntersitial3.5
TestisLeydigCell3.9
TestisSeminiferousTubule5.45
Thalamus45.95
Thymus3.1
Thyroid33.95
Tongue3.95
Tonsil3.8
Trachea3.3
TrigeminalGanglion4.7
Uterus3.25
UterusCorpus3.45
WholeBlood4.3
Wholebrain158.85
colon3.95
pineal_day5
pineal_night4.86
retina50.7
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P201570
  • 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
Amygdala7.86 ± 0.5
Basal Forebrain7.1 ± 0.15
Basal Part of Pons7.41 ± 0.41
Cerebellar Cortex6.87 ± 0.47
Cerebellar Nuclei7.27 ± 0.51
Claustrum8.3 ± 0.97
Epithalamus7.02 ± 0.27
Frontal Lobe7.26 ± 0.58
Globus Pallidus7.25 ± 0.34
Hypothalamus6.76 ± 0.37
Insula7.13 ± 0.38
Limbic Lobe8.14 ± 0.73
Mesencephalon7.21 ± 0.47
Myelencephalon7.5 ± 0.51
Occipital Lobe8.29 ± 0.71
Parietal Lobe7.66 ± 0.57
Pontine Tegmentum7.45 ± 0.6
Striatum7.87 ± 0.54
Subthalamus7.02 ± 0.12
Temporal Lobe7.41 ± 0.51
Thalamus7.21 ± 0.4
White Matter7.89 ± 0.65
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Celsr2CBCerebellum13.07
14.6
Celsr2CTXCerebral cortex54.41
44.85
Celsr2HIPHippocampal region28.28
39.71
Celsr2HPFHippocampal formation35.61
41.05
Celsr2HYHypothalamus3.89
3.16
Celsr2LSXLateral septal complex5.48
4.65
Celsr2MBMidbrain9.79
9.7
Celsr2MYMedulla23.89
29.79
Celsr2OLFOlfactory bulb31.94
26.72
Celsr2PPons13.62
16.01
Celsr2PALPallidum10.83
10.6
Celsr2RHPRetrohippocampal region51.25
45.83
Celsr2sAMYStriatum-like amygdalar nuclei8.1
6.68
Celsr2STRStriatum9.51
7.18
Celsr2STRdStriatum dorsal region8.72
6.63
Celsr2STRvStriatum ventral region16.15
10.63
Celsr2THThalamus11.31
9.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CELR2_HUMAN_1087 8 1087 1094 ALDNNRPL PRIDE
CELR2_HUMAN_2176 11 2176 2186 KGNFAGAKLPR PRIDE
PAp00504356 23 1516 1538 SLDLTGPLLLGGVPDLPESFPVR 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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