AutismKB 2.0

Annotation Detail for CCBL2


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Basic Information Top
Gene Symbol:CCBL2 ( DKFZp547N1117,DKFZp667D0223,KAT3,KATIII,MGC9398,RP4-531M19.2 )
Gene Full Name: cysteine conjugate-beta lyase 2
Band: 1p22.2
Quick LinksEntrez ID:56267; OMIM: 610656; Uniprot ID:KAT3_HUMAN; ENSEMBL ID: ENSG00000137944; HGNC ID:
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 body6 / 7076184
blastocyst2 / 6231932
fetus53 / 56401293
neonate0 / 310970 
infant3 / 23620127
juvenile10 / 55556179
adult120 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor5 / 9417853
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor11 / 11424696
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor27 / 263845102
glioma5 / 10688346
head and neck tumor8 / 13630258
kidney tumor5 / 6895972
leukemia8 / 9584283
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal246 / 336030773
ovarian tumor6 / 7668278
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer8 / 10268077
retinoblastoma4 / 4635686
skin tumor7 / 12494956
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites2 / 4001549
bladder3 / 29757100
blood12 / 12347897
bone3 / 7165541
bone marrow1 / 4880120
brain49 / 110098944
cervix4 / 4817183
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue17 / 21572278
esophagus1 / 2020949
eye12 / 21105456
heart7 / 8962678
intestine16 / 23447268
kidney24 / 211777113
larynx1 / 2414541
liver8 / 20774338
lung17 / 33697450
lymph2 / 4427045
lymph node5 / 9161054
mammary gland12 / 15327178
mouth2 / 6705229
muscle2 / 10771518
nerve1 / 1576863
ovary7 / 10205168
pancreas10 / 21481246
parathyroid5 / 20539243
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta17 / 28082560
prostate15 / 18934579
salivary gland0 / 201550 
skin13 / 21057461
spleen9 / 53952166
stomach9 / 9661993
testis22 / 33044266
thymus2 / 8113124
thyroid5 / 47473105
tonsil2 / 16999117
trachea8 / 52413152
umbilical cord0 / 136800 
uterus16 / 23287868
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209472_at
Cell line Expression level Expression bar
721_B_lymphoblasts152.6
Adipocyte127.05
AdrenalCortex32.4
Adrenalgland29.85
Amygdala41.55
Appendix20.5
AtrioventricularNode23.45
BDCA4+_DentriticCells92.05
Bonemarrow22.2
BronchialEpithelialCells93.9
CD105+_Endothelial72.1
CD14+_Monocytes79.45
CD19+_BCells(neg._sel.)88.2
CD33+_Myeloid74.85
CD34+94.55
CD4+_Tcells84.2
CD56+_NKCells95.5
CD71+_EarlyErythroid15.55
CD8+_Tcells95.65
CardiacMyocytes47.55
Caudatenucleus18.2
Cerebellum12.85
CerebellumPeduncles22.45
CiliaryGanglion22.95
CingulateCortex40.45
Colorectaladenocarcinoma16.2
DorsalRootGanglion14.4
FetalThyroid20.55
Fetalbrain12.9
Fetalliver22.95
Fetallung16
GlobusPallidus18.75
Heart31.75
Hypothalamus49
Kidney29.6
Leukemia_chronicMyelogenousK-56235.95
Leukemia_promyelocytic-HL-6036.1
Leukemialymphoblastic(MOLT-4)78.55
Liver17.65
Lung13.35
Lymphnode30.9
Lymphoma_burkitts(Daudi)47.1
Lymphoma_burkitts(Raji)24.3
MedullaOblongata21.65
OccipitalLobe15.25
OlfactoryBulb22.1
Ovary19.75
Pancreas21
PancreaticIslet37.15
ParietalLobe21.75
Pituitary52.65
Placenta17.15
Pons26.9
PrefrontalCortex51.6
Prostate38.95
Salivarygland36.25
SkeletalMuscle25.05
Skin11.9
SmoothMuscle34.3
Spinalcord26.2
SubthalamicNucleus26.65
SuperiorCervicalGanglion22.05
TemporalLobe17.7
Testis10.25
TestisGermCell16.65
TestisIntersitial10.45
TestisLeydigCell9.3
TestisSeminiferousTubule19
Thalamus38.75
Thymus19.9
Thyroid77.85
Tongue21.55
Tonsil24.15
Trachea30.45
TrigeminalGanglion32.2
Uterus28.9
UterusCorpus24.35
WholeBlood96.7
Wholebrain45.7
colon110.35
pineal_day38.54
pineal_night41.66
retina61.95
small_intestine80.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15719_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
Amygdala5.86 ± 0.52
Basal Forebrain5.78 ± 0.18
Basal Part of Pons6.14 ± 0.28
Cerebellar Cortex5.8 ± 0.43
Cerebellar Nuclei5.84 ± 0.58
Claustrum6.01 ± 0.6
Epithalamus5.4 ± 0.45
Frontal Lobe5.97 ± 0.36
Globus Pallidus5.65 ± 0.3
Hypothalamus6.02 ± 0.32
Insula5.84 ± 0.31
Limbic Lobe6.06 ± 0.46
Mesencephalon5.83 ± 0.52
Myelencephalon5.8 ± 0.47
Occipital Lobe5.74 ± 0.51
Parietal Lobe5.91 ± 0.39
Pontine Tegmentum5.82 ± 0.37
Striatum5.58 ± 0.39
Subthalamus5.96 ± 0.51
Temporal Lobe5.92 ± 0.37
Thalamus5.94 ± 0.3
White Matter5.68 ± 0.08
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00069962 12 88 99 IAAIDSLNQYTR 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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