AutismKB 2.0

Annotation Detail for CELSR1


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Basic Information Top
Gene Symbol:CELSR1 ( CDHF9,DKFZp434P0729,FMI2,HFMI2,ME2 )
Gene Full Name: cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)
Band: 22q13.31
Quick LinksEntrez ID:9620; OMIM: 604523; Uniprot ID:CELR1_HUMAN; ENSEMBL ID: ENSG00000075275; HGNC ID: 1850
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 body2 / 7076128
blastocyst7 / 62319112
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult50 / 193912125
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) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor14 / 136302102
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal53 / 336030715
ovarian tumor10 / 76682130
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain6 / 11009895
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine5 / 23447221
kidney10 / 21177747
larynx2 / 2414582
liver0 / 2077430 
lung15 / 33697444
lymph0 / 442700 
lymph node5 / 9161054
mammary gland12 / 15327178
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary10 / 10205197
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta1 / 2808253
prostate4 / 18934521
salivary gland5 / 20155248
skin5 / 21057423
spleen0 / 539520 
stomach1 / 9661910
testis3 / 3304429
thymus0 / 811310 
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204539_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte4.35
AdrenalCortex4.75
Adrenalgland3.8
Amygdala4.55
Appendix5.45
AtrioventricularNode3.55
BDCA4+_DentriticCells4.7
Bonemarrow4.55
BronchialEpithelialCells4.25
CD105+_Endothelial4.4
CD14+_Monocytes4.65
CD19+_BCells(neg._sel.)4.6
CD33+_Myeloid5.45
CD34+5.4
CD4+_Tcells4.65
CD56+_NKCells5.1
CD71+_EarlyErythroid4.15
CD8+_Tcells4.1
CardiacMyocytes6
Caudatenucleus3.95
Cerebellum3.55
CerebellumPeduncles5.55
CiliaryGanglion3.25
CingulateCortex4.6
Colorectaladenocarcinoma4.35
DorsalRootGanglion3.5
FetalThyroid4.3
Fetalbrain4.3
Fetalliver3.8
Fetallung3.55
GlobusPallidus3.3
Heart6.35
Hypothalamus4.7
Kidney3.7
Leukemia_chronicMyelogenousK-5623.95
Leukemia_promyelocytic-HL-603.85
Leukemialymphoblastic(MOLT-4)3.45
Liver6.2
Lung4.8
Lymphnode3.7
Lymphoma_burkitts(Daudi)5.65
Lymphoma_burkitts(Raji)6.35
MedullaOblongata3.95
OccipitalLobe3.9
OlfactoryBulb3.45
Ovary3
Pancreas3.55
PancreaticIslet4.65
ParietalLobe4.75
Pituitary5.1
Placenta4.45
Pons4.3
PrefrontalCortex5.35
Prostate5.05
Salivarygland3.65
SkeletalMuscle5.9
Skin3.55
SmoothMuscle4.9
Spinalcord4.65
SubthalamicNucleus4.05
SuperiorCervicalGanglion5.7
TemporalLobe4.1
Testis3.75
TestisGermCell3.6
TestisIntersitial3.7
TestisLeydigCell4.4
TestisSeminiferousTubule3.75
Thalamus4.55
Thymus3.4
Thyroid5.45
Tongue4.4
Tonsil4.25
Trachea3.65
TrigeminalGanglion6.25
Uterus3.5
UterusCorpus4.1
WholeBlood4.8
Wholebrain3.65
colon4.4
pineal_day5.4
pineal_night5.3
retina5.275
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P132378
  • 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
Amygdala2 ± 1.12
Basal Forebrain1.32 ± 0.58
Basal Part of Pons0.69 ± 0.57
Cerebellar Cortex0.96 ± 0.61
Cerebellar Nuclei2.4 ± 0.86
Claustrum3.6 ± 0.84
Epithalamus4.46 ± 1.22
Frontal Lobe1.39 ± 0.91
Globus Pallidus1.93 ± 0.71
Hypothalamus1.38 ± 0.53
Insula1.34 ± 1.05
Limbic Lobe1.63 ± 1.07
Mesencephalon2.07 ± 1.17
Myelencephalon1.61 ± 1.13
Occipital Lobe2.22 ± 1.86
Parietal Lobe1.12 ± 0.85
Pontine Tegmentum1.61 ± 0.97
Striatum1.9 ± 1.33
Subthalamus1.23 ± 0.63
Temporal Lobe1.43 ± 0.94
Thalamus1.12 ± 0.72
White Matter1.39 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Celsr1LSXLateral septal complex0.42
0.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CELR1_HUMAN_2201 8 2201 2208 AAWEQIQR PRIDE
PAp00007803 23 2407 2429 TKPVCVFWNHSLAVGGTGGWSAR 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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