AutismKB 2.0

Annotation Detail for CTSB


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Basic Information Top
Gene Symbol:CTSB ( APPS,CPSB )
Gene Full Name: cathepsin B
Band: 8p23.1
Quick LinksEntrez ID:1508; OMIM: 116810; Uniprot ID:CATB_HUMAN; ENSEMBL ID: ENSG00000164733; HGNC ID: 2527
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 body31 / 70761438
blastocyst5 / 6231980
fetus114 / 564012202
neonate72 / 310972315
infant4 / 23620169
juvenile29 / 55556521
adult1229 / 1939121633
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma8 / 17475457
breast (mammary gland) tumor31 / 94178329
cervical tumor8 / 34366232
chondrosarcoma109 / 828231316
colorectal tumor50 / 114246437
esophageal tumor17 / 17290983
gastrointestinal tumor46 / 119369385
germ cell tumor133 / 263845504
glioma52 / 106883486
head and neck tumor176 / 1363021291
kidney tumor25 / 68959362
leukemia21 / 95842219
liver tumor65 / 96359674
lung tumor26 / 103127252
lymphoma8 / 71755111
non-neoplasia179 / 972501840
normal1589 / 3360307472
ovarian tumor63 / 76682821
pancreatic tumor79 / 104616755
primitive neuroectodermal tumor of the CNS65 / 125680517
prostate cancer50 / 102680486
retinoblastoma14 / 46356302
skin tumor80 / 124949640
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor75 / 90257830
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue11 / 13106839
adrenal gland24 / 33197722
ascites12 / 40015299
bladder24 / 29757806
blood97 / 123478785
bone107 / 716551493
bone marrow15 / 48801307
brain460 / 1100989417
cervix13 / 48171269
connective tissue215 / 1492551440
ear2 / 16212123
embryonic tissue49 / 215722227
esophagus19 / 20209940
eye83 / 211054393
heart19 / 89626211
intestine96 / 234472409
kidney88 / 211777415
larynx15 / 24145621
liver111 / 207743534
lung114 / 336974338
lymph0 / 442700 
lymph node15 / 91610163
mammary gland58 / 153271378
mouth23 / 67052343
muscle12 / 107715111
nerve7 / 15768443
ovary73 / 102051715
pancreas98 / 214812456
parathyroid15 / 20539730
pharynx12 / 41328290
pituitary gland4 / 16585241
placenta230 / 280825819
prostate77 / 189345406
salivary gland5 / 20155248
skin172 / 210574816
spleen35 / 53952648
stomach42 / 96619434
testis66 / 330442199
thymus21 / 81131258
thyroid215 / 474734528
tonsil2 / 16999117
trachea24 / 52413457
umbilical cord3 / 13680219
uterus134 / 232878575
vascular34 / 51780656
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200838_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.65
Adipocyte880.75
AdrenalCortex133.35
Adrenalgland389.4
Amygdala340.45
Appendix109.45
AtrioventricularNode65.8
BDCA4+_DentriticCells790.65
Bonemarrow389.5
BronchialEpithelialCells1137.45
CD105+_Endothelial241.65
CD14+_Monocytes852.2
CD19+_BCells(neg._sel.)36.45
CD33+_Myeloid570.5
CD34+50
CD4+_Tcells73.5
CD56+_NKCells26.1
CD71+_EarlyErythroid1142.7
CD8+_Tcells18.25
CardiacMyocytes477.4
Caudatenucleus220.8
Cerebellum204.7
CerebellumPeduncles227.9
CiliaryGanglion117.1
CingulateCortex207.65
Colorectaladenocarcinoma534.45
DorsalRootGanglion118
FetalThyroid2695.65
Fetalbrain158.15
Fetalliver291.7
Fetallung480.5
GlobusPallidus75.3
Heart730.85
Hypothalamus318.6
Kidney1613.35
Leukemia_chronicMyelogenousK-562135.6
Leukemia_promyelocytic-HL-6023.9
Leukemialymphoblastic(MOLT-4)34.9
Liver1042.45
Lung772.05
Lymphnode667.95
Lymphoma_burkitts(Daudi)75.3
Lymphoma_burkitts(Raji)32.65
MedullaOblongata163.05
OccipitalLobe277.3
OlfactoryBulb203.95
Ovary181.2
Pancreas181
PancreaticIslet715.55
ParietalLobe252.8
Pituitary266.45
Placenta1223.1
Pons150.35
PrefrontalCortex287.75
Prostate376.15
Salivarygland250.4
SkeletalMuscle127.05
Skin54.5
SmoothMuscle959.1
Spinalcord319.65
SubthalamicNucleus120.5
SuperiorCervicalGanglion82
TemporalLobe207.9
Testis120.1
TestisGermCell75.3
TestisIntersitial76.85
TestisLeydigCell89.7
TestisSeminiferousTubule77.85
Thalamus220.95
Thymus243.25
Thyroid3402.1
Tongue214.9
Tonsil296.65
Trachea440.95
TrigeminalGanglion108.45
Uterus267.8
UterusCorpus1164.9
WholeBlood293.85
Wholebrain462.1
colon421.85
pineal_day542.92
pineal_night592.36
retina884.625
small_intestine734.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P303770
  • 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
Amygdala7.79 ± 0.32
Basal Forebrain7.64 ± 0.15
Basal Part of Pons8.21 ± 0.18
Cerebellar Cortex7.52 ± 0.19
Cerebellar Nuclei7.98 ± 0.34
Claustrum8.02 ± 0.41
Epithalamus7.97 ± 0.35
Frontal Lobe7.97 ± 0.31
Globus Pallidus7.65 ± 0.34
Hypothalamus8.09 ± 0.44
Insula7.9 ± 0.2
Limbic Lobe7.84 ± 0.36
Mesencephalon7.92 ± 0.32
Myelencephalon7.86 ± 0.37
Occipital Lobe7.72 ± 0.38
Parietal Lobe7.83 ± 0.32
Pontine Tegmentum7.72 ± 0.32
Striatum7.96 ± 0.41
Subthalamus7.97 ± 0.34
Temporal Lobe7.95 ± 0.32
Thalamus7.71 ± 0.27
White Matter7.01 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CtsbCBCerebellum75.82
100
CtsbCTXCerebral cortex100
100
CtsbHIPHippocampal region100
100
CtsbHPFHippocampal formation100
100
CtsbHYHypothalamus100
100
CtsbLSXLateral septal complex100
100
CtsbMBMidbrain100
100
CtsbMYMedulla100
100
CtsbOLFOlfactory bulb100
100
CtsbPPons100
100
CtsbPALPallidum100
100
CtsbRHPRetrohippocampal region100
100
CtsbsAMYStriatum-like amygdalar nuclei100
100
CtsbSTRStriatum100
100
CtsbSTRdStriatum dorsal region100
100
CtsbSTRvStriatum ventral region100
100
CtsbTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CATB_HUMAN_0 0 0 0 DIMAEIYK PRIDE
CATB_HUMAN_0 0 0 0 EQWPQCPTIK PRIDE
CATB_HUMAN_0 0 0 0 GQDHCGIESEVVAGIPR PRIDE
CATB_HUMAN_0 0 0 0 HYGYNSYSVSNSEK PRIDE
CATB_HUMAN_0 0 0 0 ICEPGYSPTYKQDK PRIDE
CATB_HUMAN_0 0 0 0 LPASFDAR PRIDE
CATB_HUMAN_209 11 209 219 ICEPGYSPTYK PRIDE
CATB_HUMAN_209 14 209 222 ICEPGYSPTYKQDK PRIDE
CATB_HUMAN_220 25 220 244 QDKHYGYNSYSVSNSEKDIMAEIYK PRIDE
CATB_HUMAN_223 14 223 236 HYGYNSYSVSNSEK PRIDE
CATB_HUMAN_223 22 223 244 HYGYNSYSVSNSEKDIMAEIYK PRIDE
CATB_HUMAN_237 8 237 244 DIMAEIYK PRIDE
CATB_HUMAN_238 8 238 245 DIMAEIYK PRIDE
CATB_HUMAN_245 18 245 262 NGPVEGAFSVYSDFLLYK PRIDE
CATB_HUMAN_263 18 263 280 SGVYQHVTGEMMGGHAIR PRIDE
CATB_HUMAN_264 18 264 281 SGVYQHVTGEMMGGHAIR PRIDE
CATB_HUMAN_311 20 311 330 ILRGQDHCGIESEVVAGIPR PRIDE
CATB_HUMAN_314 17 314 330 GQDHCGIESEVVAGIPR PRIDE
CATB_HUMAN_79 18 79 96 LPASFDAREQWPQCPTIK PRIDE
CATB_HUMAN_79 8 79 86 LPASFDAR PRIDE
CATB_HUMAN_80 8 80 87 LPASFDAR PRIDE
CATB_HUMAN_87 10 87 96 EQWPQCPTIK PRIDE
PAp00002195 10 88 97 EQWPQCPTIK 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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