AutismKB 2.0

Annotation Detail for CBY1


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Basic Information Top
Gene Symbol:CBY1 ( C22orf2,CBY,HS508I15A,PGEA1,PIGEA-14,PIGEA14,arb1 )
Gene Full Name: chibby homolog 1 (Drosophila)
Band: 22q13.1
Quick LinksEntrez ID:25776; OMIM: 607757; Uniprot ID:CBY1_HUMAN; ENSEMBL ID: ENSG00000100211; HGNC ID: 1307
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 
blastocyst1 / 6231916
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
embryoid body4 / 7076156
blastocyst2 / 6231932
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult94 / 193912148
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal13 / 33603073
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 
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor30 / 94178318
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal100 / 336030729
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain6 / 11009895
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
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 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites4 / 4001599
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain13 / 110098911
cervix7 / 48171145
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye5 / 21105423
heart2 / 8962622
intestine7 / 23447229
kidney4 / 21177718
larynx0 / 241450 
liver3 / 20774314
lung14 / 33697441
lymph0 / 442700 
lymph node0 / 916100 
mammary gland30 / 153271195
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas10 / 21481246
parathyroid1 / 2053948
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta11 / 28082539
prostate1 / 1893455
salivary gland1 / 2015549
skin8 / 21057437
spleen0 / 539520 
stomach2 / 9661920
testis12 / 33044236
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203450_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.2
Adipocyte9.05
AdrenalCortex13.3
Adrenalgland17.7
Amygdala8.3
Appendix8.85
AtrioventricularNode6.45
BDCA4+_DentriticCells7.1
Bonemarrow6.15
BronchialEpithelialCells15.75
CD105+_Endothelial10.45
CD14+_Monocytes6.95
CD19+_BCells(neg._sel.)8.1
CD33+_Myeloid4.75
CD34+11.45
CD4+_Tcells9.95
CD56+_NKCells5.65
CD71+_EarlyErythroid9.3
CD8+_Tcells9.65
CardiacMyocytes13.05
Caudatenucleus8.35
Cerebellum7.2
CerebellumPeduncles9.95
CiliaryGanglion6.2
CingulateCortex9
Colorectaladenocarcinoma7.15
DorsalRootGanglion6.7
FetalThyroid18.15
Fetalbrain10.4
Fetalliver7.7
Fetallung11.65
GlobusPallidus6.25
Heart17.5
Hypothalamus11.15
Kidney8.7
Leukemia_chronicMyelogenousK-5627.4
Leukemia_promyelocytic-HL-605.15
Leukemialymphoblastic(MOLT-4)5.8
Liver10.6
Lung10.55
Lymphnode7.7
Lymphoma_burkitts(Daudi)8.75
Lymphoma_burkitts(Raji)4.7
MedullaOblongata7.45
OccipitalLobe7.8
OlfactoryBulb10.9
Ovary5.85
Pancreas7.15
PancreaticIslet13.25
ParietalLobe9.15
Pituitary19.45
Placenta9.25
Pons8.25
PrefrontalCortex12.55
Prostate11.25
Salivarygland8.15
SkeletalMuscle10
Skin6.7
SmoothMuscle12.9
Spinalcord13.25
SubthalamicNucleus6.45
SuperiorCervicalGanglion9
TemporalLobe6.15
Testis13.45
TestisGermCell8.6
TestisIntersitial8.05
TestisLeydigCell9.8
TestisSeminiferousTubule8.45
Thalamus9.05
Thymus7.25
Thyroid11.65
Tongue8.55
Tonsil8.35
Trachea7.55
TrigeminalGanglion8.65
Uterus8.45
UterusCorpus7.9
WholeBlood6.75
Wholebrain7.15
colon9
pineal_day11.6
pineal_night13.14
retina13.5
small_intestine8.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9119_PI416261804
  • 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
Amygdala4.06 ± 0.64
Basal Forebrain4.15 ± 0.56
Basal Part of Pons4.21 ± 0.77
Cerebellar Cortex4.35 ± 0.34
Cerebellar Nuclei3.92 ± 0.51
Claustrum3.9 ± 0.74
Epithalamus4.67 ± 0.29
Frontal Lobe3.96 ± 0.53
Globus Pallidus4.23 ± 0.64
Hypothalamus3.76 ± 0.6
Insula4.09 ± 0.53
Limbic Lobe4.02 ± 0.43
Mesencephalon4.01 ± 0.5
Myelencephalon4.04 ± 0.52
Occipital Lobe4.27 ± 0.52
Parietal Lobe4.01 ± 0.44
Pontine Tegmentum3.96 ± 0.51
Striatum3.92 ± 0.58
Subthalamus4.26 ± 0.28
Temporal Lobe4.07 ± 0.47
Thalamus3.85 ± 0.54
White Matter4.81 ± 0.53
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CBY1_HUMAN_82 11 82 92 QQLEEENNLLR PRIDE

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