AutismKB 2.0

Annotation Detail for CTSH


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Basic Information Top
Gene Symbol:CTSH ( ACC-4,ACC-5,CPSB,DKFZp686B24257,MGC1519,minichain )
Gene Full Name: cathepsin H
Band: 15q25.1
Quick LinksEntrez ID:1512; OMIM: 116820; Uniprot ID:CATH_HUMAN; ENSEMBL ID: ENSG00000103811; HGNC ID: 2535
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 body1 / 7076114
blastocyst0 / 623190 
fetus32 / 56401256
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult202 / 1939121104
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor44 / 119369368
germ cell tumor10 / 26384537
glioma16 / 106883149
head and neck tumor6 / 13630244
kidney tumor2 / 6895929
leukemia9 / 9584293
liver tumor6 / 9635962
lung tumor25 / 103127242
lymphoma7 / 7175597
non-neoplasia7 / 9725071
normal233 / 336030769
ovarian tumor1 / 7668213
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer19 / 102680185
retinoblastoma2 / 4635643
skin tumor14 / 124949112
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites3 / 4001574
bladder7 / 29757235
blood9 / 12347872
bone2 / 7165527
bone marrow3 / 4880161
brain41 / 110098937
cervix1 / 4817120
connective tissue7 / 14925546
ear2 / 16212123
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye6 / 21105428
heart13 / 89626145
intestine11 / 23447246
kidney19 / 21177789
larynx2 / 2414582
liver12 / 20774357
lung79 / 336974234
lymph2 / 4427045
lymph node29 / 91610316
mammary gland4 / 15327126
mouth1 / 6705214
muscle2 / 10771518
nerve2 / 15768126
ovary2 / 10205119
pancreas15 / 21481269
parathyroid5 / 20539243
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta17 / 28082560
prostate30 / 189345158
salivary gland0 / 201550 
skin17 / 21057480
spleen1 / 5395218
stomach30 / 96619310
testis8 / 33044224
thymus2 / 8113124
thyroid3 / 4747363
tonsil5 / 16999294
trachea0 / 524130 
umbilical cord1 / 1368073
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202295_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts595.25
Adipocyte15.8
AdrenalCortex43.65
Adrenalgland81.6
Amygdala45.3
Appendix47.3
AtrioventricularNode35.15
BDCA4+_DentriticCells417.25
Bonemarrow57.05
BronchialEpithelialCells200.7
CD105+_Endothelial51.65
CD14+_Monocytes1570.1
CD19+_BCells(neg._sel.)833.85
CD33+_Myeloid1225.85
CD34+15.6
CD4+_Tcells30.8
CD56+_NKCells81.05
CD71+_EarlyErythroid9.95
CD8+_Tcells14.35
CardiacMyocytes24.75
Caudatenucleus52.05
Cerebellum32.9
CerebellumPeduncles50.85
CiliaryGanglion40.45
CingulateCortex41.2
Colorectaladenocarcinoma11.05
DorsalRootGanglion43.3
FetalThyroid86.55
Fetalbrain26.7
Fetalliver19.15
Fetallung518.7
GlobusPallidus35.9
Heart81.45
Hypothalamus119.35
Kidney667.2
Leukemia_chronicMyelogenousK-562394.5
Leukemia_promyelocytic-HL-60169.7
Leukemialymphoblastic(MOLT-4)65.75
Liver262.3
Lung3183.8
Lymphnode538.5
Lymphoma_burkitts(Daudi)108.6
Lymphoma_burkitts(Raji)577.15
MedullaOblongata26.75
OccipitalLobe82.85
OlfactoryBulb56.55
Ovary85.8
Pancreas45.25
PancreaticIslet99.1
ParietalLobe59.15
Pituitary109.95
Placenta56.2
Pons35.2
PrefrontalCortex105.65
Prostate315.3
Salivarygland157.6
SkeletalMuscle44.1
Skin44.45
SmoothMuscle20.15
Spinalcord120
SubthalamicNucleus44.95
SuperiorCervicalGanglion52.9
TemporalLobe34.2
Testis41.35
TestisGermCell30.95
TestisIntersitial27.7
TestisLeydigCell24.9
TestisSeminiferousTubule21.25
Thalamus93.1
Thymus106.55
Thyroid86.7
Tongue22.95
Tonsil456.4
Trachea111
TrigeminalGanglion47.25
Uterus96.15
UterusCorpus333.3
WholeBlood249.15
Wholebrain108.85
colon56.15
pineal_day72.12
pineal_night70.38
retina901.925
small_intestine153.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10722_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
Amygdala5.41 ± 0.4
Basal Forebrain6.14 ± 0.91
Basal Part of Pons5.97 ± 0.66
Cerebellar Cortex5.8 ± 0.58
Cerebellar Nuclei6.18 ± 0.43
Claustrum5.49 ± 0.85
Epithalamus7.55 ± 0.37
Frontal Lobe6.38 ± 0.58
Globus Pallidus6.52 ± 0.47
Hypothalamus6.05 ± 0.83
Insula6.19 ± 0.39
Limbic Lobe6.11 ± 0.62
Mesencephalon6.41 ± 0.63
Myelencephalon6.34 ± 0.68
Occipital Lobe6.09 ± 0.44
Parietal Lobe6.34 ± 0.56
Pontine Tegmentum6.04 ± 0.48
Striatum5.99 ± 0.93
Subthalamus5.62 ± 0.76
Temporal Lobe6.25 ± 0.46
Thalamus6.8 ± 0.45
White Matter6.99 ± 0.85
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CtshCBCerebellum0.03
0.11
CtshCTXCerebral cortex0.49
0.57
CtshHIPHippocampal region0.16
0.4
CtshHPFHippocampal formation0.14
0.3
CtshHYHypothalamus0.01
0.03
CtshLSXLateral septal complex0.03
0
CtshMBMidbrain0.13
0.24
CtshMYMedulla0
0
CtshOLFOlfactory bulb0.14
0.5
CtshPPons0.11
0.37
CtshPALPallidum0.09
0.13
CtshRHPRetrohippocampal region0.08
0.14
CtshsAMYStriatum-like amygdalar nuclei0.48
0.7
CtshSTRStriatum0.16
0.2
CtshSTRdStriatum dorsal region0.17
0.21
CtshSTRvStriatum ventral region0.06
0.06
CtshTHThalamus0.13
0.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CATH_HUMAN_0 0 0 0 TPDKVNHAVLAVGYGEK PRIDE
CATH_HUMAN_197 13 197 209 GIMGEDTYPYQGK PRIDE
CATH_HUMAN_274 17 274 290 TPDKVNHAVLAVGYGEK PRIDE
CATH_HUMAN_319 16 319 334 NMCGLAACASYPIPLV PRIDE
PAp00002896 18 198 215 GIMGEDTYPYQGKDGYCK 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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