AutismKB 2.0

Annotation Detail for CRB1


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Basic Information Top
Gene Symbol:CRB1 ( LCA8,RP12 )
Gene Full Name: crumbs homolog 1 (Drosophila)
Band: 1q31.3
Quick LinksEntrez ID:23418; OMIM: 604210; Uniprot ID:CRUM1_HUMAN; ENSEMBL ID: ENSG00000134376; HGNC ID: 2343
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 body0 / 707610 
blastocyst0 / 623190 
fetus27 / 56401247
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult19 / 19391219
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal67 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor0 / 902570 
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 
brain49 / 110098944
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver2 / 2077439
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis26 / 33044278
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220522_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.55
Adipocyte2.75
AdrenalCortex2.95
Adrenalgland2.35
Amygdala2.95
Appendix2.8
AtrioventricularNode2.45
BDCA4+_DentriticCells3.1
Bonemarrow2.7
BronchialEpithelialCells2.75
CD105+_Endothelial2.8
CD14+_Monocytes3
CD19+_BCells(neg._sel.)3
CD33+_Myeloid3.65
CD34+3.55
CD4+_Tcells3.05
CD56+_NKCells3.35
CD71+_EarlyErythroid2.6
CD8+_Tcells2.7
CardiacMyocytes3.4
Caudatenucleus2.5
Cerebellum2.25
CerebellumPeduncles3.15
CiliaryGanglion2.1
CingulateCortex2.85
Colorectaladenocarcinoma2.8
DorsalRootGanglion2.15
FetalThyroid2.7
Fetalbrain2.8
Fetalliver2.4
Fetallung2.3
GlobusPallidus2
Heart3.5
Hypothalamus3.1
Kidney2.25
Leukemia_chronicMyelogenousK-5622.55
Leukemia_promyelocytic-HL-602.5
Leukemialymphoblastic(MOLT-4)2.25
Liver3.85
Lung3.1
Lymphnode2.4
Lymphoma_burkitts(Daudi)3.55
Lymphoma_burkitts(Raji)3.8
MedullaOblongata2.6
OccipitalLobe2.55
OlfactoryBulb2.2
Ovary1.85
Pancreas2.25
PancreaticIslet2.95
ParietalLobe2.9
Pituitary3.25
Placenta2.95
Pons2.65
PrefrontalCortex3.75
Prostate3.3
Salivarygland2.25
SkeletalMuscle3.15
Skin2.35
SmoothMuscle3.15
Spinalcord3
SubthalamicNucleus2.6
SuperiorCervicalGanglion3.5
TemporalLobe2.55
Testis2.4
TestisGermCell2.4
TestisIntersitial2.35
TestisLeydigCell2.75
TestisSeminiferousTubule2.4
Thalamus2.8
Thymus2.25
Thyroid3.55
Tongue2.8
Tonsil2.7
Trachea2.35
TrigeminalGanglion2.9
Uterus2.3
UterusCorpus2.45
WholeBlood3.1
Wholebrain2.4
colon2.8
pineal_day4.06
pineal_night5.38
retina3.375
small_intestine2.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P12357
  • 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
Amygdala5.11 ± 0.58
Basal Forebrain5.5 ± 0.25
Basal Part of Pons4.48 ± 0.46
Cerebellar Cortex5.34 ± 0.25
Cerebellar Nuclei4.4 ± 0.57
Claustrum4.48 ± 0.92
Epithalamus6.41 ± 0.8
Frontal Lobe4.76 ± 0.59
Globus Pallidus4.9 ± 0.52
Hypothalamus4.61 ± 0.49
Insula4.9 ± 0.41
Limbic Lobe4.87 ± 0.63
Mesencephalon4.77 ± 0.6
Myelencephalon4.84 ± 0.67
Occipital Lobe4.99 ± 0.58
Parietal Lobe4.85 ± 0.59
Pontine Tegmentum4.82 ± 0.59
Striatum4.91 ± 0.85
Subthalamus4.57 ± 0.22
Temporal Lobe4.66 ± 0.49
Thalamus4.61 ± 0.39
White Matter5.71 ± 0.25
Mouse Brain ISH
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