AutismKB 2.0

Annotation Detail for CRYBB3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CRYBB3 ( CATCN2,CRYB3,MGC125772,MGC125773,MGC125774 )
Gene Full Name: crystallin, beta B3
Band: 22q11.23
Quick LinksEntrez ID:1417; OMIM: 123630; Uniprot ID:CRBB3_HUMAN; ENSEMBL ID: ENSG00000100053; HGNC ID: 2400
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
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 tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal20 / 33603075
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 tumor0 / 1251910 
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 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
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: 207685_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.5
Adipocyte3.6
AdrenalCortex3.8
Adrenalgland3.05
Amygdala3.8
Appendix3.75
AtrioventricularNode2.8
BDCA4+_DentriticCells4.1
Bonemarrow3.55
BronchialEpithelialCells3.55
CD105+_Endothelial3.7
CD14+_Monocytes3.9
CD19+_BCells(neg._sel.)3.9
CD33+_Myeloid4.7
CD34+5.9
CD4+_Tcells3.95
CD56+_NKCells4.35
CD71+_EarlyErythroid3.45
CD8+_Tcells3.5
CardiacMyocytes4.55
Caudatenucleus3.25
Cerebellum2.95
CerebellumPeduncles4.1
CiliaryGanglion2.6
CingulateCortex3.7
Colorectaladenocarcinoma3.65
DorsalRootGanglion2.8
FetalThyroid3.5
Fetalbrain3.65
Fetalliver3.15
Fetallung3.05
GlobusPallidus2.7
Heart4.65
Hypothalamus3.95
Kidney2.95
Leukemia_chronicMyelogenousK-5623.25
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)2.9
Liver4.75
Lung4
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.6
Lymphoma_burkitts(Raji)5.05
MedullaOblongata3.35
OccipitalLobe3.25
OlfactoryBulb2.85
Ovary2.4
Pancreas2.9
PancreaticIslet3.9
ParietalLobe3.8
Pituitary4.25
Placenta3.75
Pons3.45
PrefrontalCortex4.5
Prostate4.25
Salivarygland2.9
SkeletalMuscle4.2
Skin2.8
SmoothMuscle4.15
Spinalcord3.9
SubthalamicNucleus3.3
SuperiorCervicalGanglion4.1
TemporalLobe3.3
Testis3.1
TestisGermCell3
TestisIntersitial3.05
TestisLeydigCell3.55
TestisSeminiferousTubule3.1
Thalamus3.7
Thymus2.9
Thyroid4.55
Tongue3.55
Tonsil3.5
Trachea3
TrigeminalGanglion3.6
Uterus2.95
UterusCorpus3.25
WholeBlood4
Wholebrain3.1
colon3.6
pineal_day4.54
pineal_night4.48
retina4.375
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P359441
  • 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
Amygdala2.98 ± 1
Basal Forebrain2.47 ± 0.6
Basal Part of Pons2.08 ± 0.47
Cerebellar Cortex2.39 ± 1.03
Cerebellar Nuclei2.73 ± 0.73
Claustrum3.29 ± 0.98
Epithalamus2.05 ± 0.89
Frontal Lobe2.27 ± 0.87
Globus Pallidus2.99 ± 0.64
Hypothalamus2.52 ± 0.49
Insula2.57 ± 0.56
Limbic Lobe2.52 ± 0.77
Mesencephalon2.51 ± 0.77
Myelencephalon2.45 ± 0.76
Occipital Lobe2.73 ± 1.1
Parietal Lobe2.49 ± 0.84
Pontine Tegmentum2.44 ± 0.94
Striatum2.38 ± 0.61
Subthalamus2.67 ± 0.54
Temporal Lobe2.26 ± 0.76
Thalamus2.3 ± 0.72
White Matter2.68 ± 0.49
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00434620 17 39 55 CELSAECPSLTDSLLEK 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