AutismKB 2.0

Annotation Detail for CYBB


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CYBB ( CGD,GP91-1,GP91-PHOX,GP91PHOX,NOX2,p91-PHOX )
Gene Full Name: cytochrome b-245, beta polypeptide
Band: Xp21.1-p11.4
Quick LinksEntrez ID:1536; OMIM: 300481; Uniprot ID:CY24B_HUMAN; ENSEMBL ID: ENSG00000165168; HGNC ID: 2578
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 
fetus7 / 56401212
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult88 / 193912145
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia27 / 95842281
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia11 / 97250113
normal115 / 336030734
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
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 
blood33 / 123478267
bone1 / 7165513
bone marrow1 / 4880120
brain27 / 110098924
cervix0 / 481710 
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine8 / 23447234
kidney10 / 21177747
larynx0 / 241450 
liver7 / 20774333
lung14 / 33697441
lymph1 / 4427022
lymph node38 / 91610414
mammary gland1 / 1532716
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta13 / 28082546
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen4 / 5395274
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus5 / 23287821
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203923_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.75
Adipocyte8.85
AdrenalCortex10.1
Adrenalgland8.1
Amygdala9.1
Appendix11.75
AtrioventricularNode8.2
BDCA4+_DentriticCells749.9
Bonemarrow74.7
BronchialEpithelialCells8.1
CD105+_Endothelial26.4
CD14+_Monocytes1586.6
CD19+_BCells(neg._sel.)311.45
CD33+_Myeloid1120.25
CD34+28.55
CD4+_Tcells8.6
CD56+_NKCells110.25
CD71+_EarlyErythroid10.2
CD8+_Tcells7.25
CardiacMyocytes11.85
Caudatenucleus8.2
Cerebellum7.05
CerebellumPeduncles11.35
CiliaryGanglion11
CingulateCortex9.25
Colorectaladenocarcinoma8.25
DorsalRootGanglion8.65
FetalThyroid9.2
Fetalbrain8.7
Fetalliver10.5
Fetallung11.65
GlobusPallidus6.9
Heart12.2
Hypothalamus10.3
Kidney7.9
Leukemia_chronicMyelogenousK-5627.5
Leukemia_promyelocytic-HL-608.55
Leukemialymphoblastic(MOLT-4)7.1
Liver12.25
Lung18.3
Lymphnode65.25
Lymphoma_burkitts(Daudi)19.3
Lymphoma_burkitts(Raji)13.15
MedullaOblongata8.3
OccipitalLobe7.55
OlfactoryBulb8.75
Ovary9.75
Pancreas7.5
PancreaticIslet9.8
ParietalLobe9.7
Pituitary10.9
Placenta9.75
Pons12.65
PrefrontalCortex10.95
Prostate10.3
Salivarygland14.3
SkeletalMuscle12.3
Skin10.8
SmoothMuscle9.9
Spinalcord16.95
SubthalamicNucleus8.75
SuperiorCervicalGanglion14.55
TemporalLobe11
Testis7.25
TestisGermCell7.1
TestisIntersitial7.75
TestisLeydigCell9.25
TestisSeminiferousTubule7.8
Thalamus9.45
Thymus7.15
Thyroid10.25
Tongue8.95
Tonsil30.3
Trachea7.35
TrigeminalGanglion29.65
Uterus7.1
UterusCorpus8.7
WholeBlood1433.35
Wholebrain6.9
colon8.7
pineal_day11.22
pineal_night9.86
retina12.225
small_intestine9.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P217258
  • 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
Amygdala4.68 ± 0.84
Basal Forebrain4.3 ± 0.6
Basal Part of Pons5.09 ± 0.57
Cerebellar Cortex4.09 ± 0.38
Cerebellar Nuclei5.93 ± 0.55
Claustrum3.79 ± 0.8
Epithalamus6.15 ± 0.35
Frontal Lobe4.48 ± 0.76
Globus Pallidus6.35 ± 0.31
Hypothalamus4.59 ± 1.31
Insula4.59 ± 0.58
Limbic Lobe4.33 ± 0.6
Mesencephalon4.61 ± 0.81
Myelencephalon4.54 ± 0.78
Occipital Lobe4.04 ± 0.56
Parietal Lobe4.52 ± 0.71
Pontine Tegmentum4.4 ± 0.79
Striatum5.26 ± 0.58
Subthalamus4.38 ± 0.21
Temporal Lobe4.63 ± 0.69
Thalamus4.53 ± 0.61
White Matter5.67 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CybbCBCerebellum19.6
24.01
CybbCTXCerebral cortex9.55
7.15
CybbHIPHippocampal region7.5
8.35
CybbHPFHippocampal formation6.94
6.89
CybbHYHypothalamus13.1
9.52
CybbLSXLateral septal complex18.33
13.4
CybbMBMidbrain5.32
5.23
CybbMYMedulla2.91
3.23
CybbOLFOlfactory bulb13.32
11.02
CybbPPons5.36
5.45
CybbPALPallidum5.17
4.23
CybbRHPRetrohippocampal region5.18
3.7
CybbsAMYStriatum-like amygdalar nuclei7.24
4.93
CybbSTRStriatum6.4
5.27
CybbSTRdStriatum dorsal region4.39
4.43
CybbSTRvStriatum ventral region4.78
3.56
CybbTHThalamus9.51
8.53
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CY24B_HUMAN_271 13 271 283 WIVGPMFLYLCER PRIDE
CY24B_HUMAN_318 10 318 327 MEVGQYIFVK PRIDE
CY24B_HUMAN_43 11 43 53 KLLGSALALAR PRIDE
CY24B_HUMAN_438 8 438 445 IYFYWLCR PRIDE
CY24B_HUMAN_44 10 44 53 LLGSALALAR PRIDE
CY24B_HUMAN_531 17 531 547 IGVFLCGPEALAETLSK PRIDE
CY24B_HUMAN_559 11 559 569 GVHFIFNKENF PRIDE
PAp00034840 17 532 548 IGVFLCGPEALAETLSK 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