AutismKB 2.0

Annotation Detail for CBS


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Basic Information Top
Gene Symbol:CBS ( HIP4 )
Gene Full Name: cystathionine-beta-synthase
Band: 21q22.3
Quick LinksEntrez ID:875; OMIM: 613381; Uniprot ID:CBS_HUMAN; ENSEMBL ID: ENSG00000160200; HGNC ID: 1550
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
blastocyst22 / 62319353
fetus39 / 56401269
neonate1 / 3109732
infant2 / 2362084
juvenile6 / 55556107
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) tumor3 / 9417831
cervical tumor10 / 34366290
chondrosarcoma3 / 8282336
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor16 / 26384560
glioma17 / 106883159
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia3 / 9584231
liver tumor7 / 9635972
lung tumor22 / 103127213
lymphoma28 / 71755390
non-neoplasia1 / 9725010
normal171 / 336030750
ovarian tumor12 / 76682156
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS22 / 125680175
prostate cancer10 / 10268097
retinoblastoma32 / 46356690
skin tumor1 / 1249498
soft tissue/muscle tissue tumor20 / 125191159
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood3 / 12347824
bone3 / 7165541
bone marrow0 / 488010 
brain106 / 110098996
cervix12 / 48171249
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue39 / 215722180
esophagus1 / 2020949
eye39 / 211054184
heart0 / 896260 
intestine9 / 23447238
kidney4 / 21177718
larynx0 / 241450 
liver23 / 207743110
lung26 / 33697477
lymph28 / 44270632
lymph node2 / 9161021
mammary gland4 / 15327126
mouth2 / 6705229
muscle19 / 107715176
nerve4 / 15768253
ovary17 / 102051166
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta7 / 28082524
prostate17 / 18934589
salivary gland0 / 201550 
skin4 / 21057418
spleen2 / 5395237
stomach4 / 9661941
testis8 / 33044224
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212816_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.8
Adipocyte7.6
AdrenalCortex6.8
Adrenalgland5.3
Amygdala22
Appendix6.3
AtrioventricularNode5.25
BDCA4+_DentriticCells6.05
Bonemarrow6.25
BronchialEpithelialCells7
CD105+_Endothelial6.1
CD14+_Monocytes6.15
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid7.6
CD34+7.2
CD4+_Tcells6.35
CD56+_NKCells6.95
CD71+_EarlyErythroid5.8
CD8+_Tcells5.45
CardiacMyocytes22.5
Caudatenucleus6.7
Cerebellum25.5
CerebellumPeduncles22.7
CiliaryGanglion4.35
CingulateCortex8.6
Colorectaladenocarcinoma70.25
DorsalRootGanglion4.7
FetalThyroid6.3
Fetalbrain8.2
Fetalliver21.15
Fetallung5.95
GlobusPallidus4.65
Heart8.05
Hypothalamus9.8
Kidney5.05
Leukemia_chronicMyelogenousK-562116.05
Leukemia_promyelocytic-HL-6018.8
Leukemialymphoblastic(MOLT-4)10.6
Liver134.05
Lung7.15
Lymphnode5.1
Lymphoma_burkitts(Daudi)7.85
Lymphoma_burkitts(Raji)96.95
MedullaOblongata7.05
OccipitalLobe5.9
OlfactoryBulb10.65
Ovary4.25
Pancreas32.55
PancreaticIslet24.35
ParietalLobe9.2
Pituitary7.35
Placenta5.8
Pons6.05
PrefrontalCortex15.3
Prostate17.2
Salivarygland4.8
SkeletalMuscle7.3
Skin4.7
SmoothMuscle12.7
Spinalcord12.25
SubthalamicNucleus7.8
SuperiorCervicalGanglion7.35
TemporalLobe5.8
Testis5
TestisGermCell4.9
TestisIntersitial5.2
TestisLeydigCell6.25
TestisSeminiferousTubule5.2
Thalamus9.6
Thymus4.6
Thyroid15.8
Tongue6.05
Tonsil5.9
Trachea5.45
TrigeminalGanglion6.45
Uterus4.8
UterusCorpus5.5
WholeBlood6.55
Wholebrain20.9
colon6.05
pineal_day7.74
pineal_night7.46
retina9.5
small_intestine5.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P48856
  • 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
Amygdala4.84 ± 0.65
Basal Forebrain5.41 ± 0.28
Basal Part of Pons5.66 ± 0.33
Cerebellar Cortex5.75 ± 0.37
Cerebellar Nuclei5 ± 0.54
Claustrum5.51 ± 0.52
Epithalamus5.3 ± 0.57
Frontal Lobe5.42 ± 0.55
Globus Pallidus4.92 ± 0.39
Hypothalamus5.52 ± 0.32
Insula5.05 ± 0.51
Limbic Lobe4.96 ± 0.62
Mesencephalon5.09 ± 0.62
Myelencephalon5.19 ± 0.57
Occipital Lobe4.86 ± 0.59
Parietal Lobe5.04 ± 0.51
Pontine Tegmentum4.93 ± 0.67
Striatum4.61 ± 0.44
Subthalamus4.1 ± 0.86
Temporal Lobe5.01 ± 0.59
Thalamus5.57 ± 0.38
White Matter4.89 ± 0.53
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CbsCBCerebellum17.08
27.32
CbsCTXCerebral cortex11.86
7.31
CbsHIPHippocampal region20.43
16.37
CbsHPFHippocampal formation21.62
16.42
CbsHYHypothalamus7.69
5.23
CbsLSXLateral septal complex15.87
11.51
CbsMBMidbrain6.58
5.38
CbsMYMedulla8.54
8.21
CbsOLFOlfactory bulb13.93
9.5
CbsPPons10.13
9
CbsPALPallidum10.22
6.89
CbsRHPRetrohippocampal region24.01
16.71
CbssAMYStriatum-like amygdalar nuclei13.41
8.83
CbsSTRStriatum11.49
7.72
CbsSTRdStriatum dorsal region11.04
7.88
CbsSTRvStriatum ventral region9.93
5.37
CbsTHThalamus6.79
4.93
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CBS_HUMAN_1 17 1 17 PSETPQAEVGPTGCPHR PRIDE
PAp00006297 17 2 18 PSETPQAEVGPTGCPHR 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