AutismKB 2.0

Annotation Detail for CTSD


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Basic Information Top
Gene Symbol:CTSD ( CLN10,CPSD,MGC2311 )
Gene Full Name: cathepsin D
Band: 11p15.5
Quick LinksEntrez ID:1509; OMIM: 116840; Uniprot ID:CATD_HUMAN; ENSEMBL ID: ENSG00000117984; HGNC ID: 2529
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 body11 / 70761155
blastocyst9 / 62319144
fetus56 / 56401299
neonate1 / 3109732
infant3 / 23620127
juvenile15 / 55556269
adult846 / 1939121436
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma6 / 17475343
breast (mammary gland) tumor90 / 94178955
cervical tumor5 / 34366145
chondrosarcoma35 / 82823422
colorectal tumor140 / 1142461225
esophageal tumor13 / 17290751
gastrointestinal tumor99 / 119369829
germ cell tumor16 / 26384560
glioma50 / 106883467
head and neck tumor70 / 136302513
kidney tumor79 / 689591145
leukemia34 / 95842354
liver tumor19 / 96359197
lung tumor97 / 103127940
lymphoma6 / 7175583
non-neoplasia17 / 97250174
normal733 / 3360307218
ovarian tumor18 / 76682234
pancreatic tumor122 / 1046161166
primitive neuroectodermal tumor of the CNS38 / 125680302
prostate cancer48 / 102680467
retinoblastoma3 / 4635664
skin tumor96 / 124949768
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor19 / 90257210
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue10 / 13106763
adrenal gland7 / 33197210
ascites26 / 40015649
bladder10 / 29757336
blood34 / 123478275
bone32 / 71655446
bone marrow13 / 48801266
brain215 / 1100989195
cervix8 / 48171166
connective tissue24 / 149255160
ear0 / 162120 
embryonic tissue41 / 215722190
esophagus13 / 20209643
eye93 / 211054440
heart2 / 8962622
intestine178 / 234472759
kidney90 / 211777424
larynx4 / 24145165
liver33 / 207743158
lung172 / 336974510
lymph2 / 4427045
lymph node18 / 91610196
mammary gland103 / 153271672
mouth3 / 6705244
muscle16 / 107715148
nerve12 / 15768761
ovary23 / 102051225
pancreas142 / 214812661
parathyroid3 / 20539146
pharynx9 / 41328217
pituitary gland3 / 16585180
placenta147 / 280825523
prostate53 / 189345279
salivary gland31 / 201551538
skin114 / 210574541
spleen29 / 53952537
stomach55 / 96619569
testis10 / 33044230
thymus3 / 8113136
thyroid26 / 47473547
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus28 / 232878120
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200766_at
Cell line Expression level Expression bar
721_B_lymphoblasts41.35
Adipocyte117.25
AdrenalCortex105.35
Adrenalgland127.95
Amygdala53.1
Appendix35
AtrioventricularNode28.1
BDCA4+_DentriticCells79.65
Bonemarrow58.7
BronchialEpithelialCells45.8
CD105+_Endothelial66.2
CD14+_Monocytes496.15
CD19+_BCells(neg._sel.)27.1
CD33+_Myeloid466.15
CD34+58.05
CD4+_Tcells39.9
CD56+_NKCells210.6
CD71+_EarlyErythroid38.8
CD8+_Tcells35.85
CardiacMyocytes47.85
Caudatenucleus45.05
Cerebellum35.95
CerebellumPeduncles56.15
CiliaryGanglion26.4
CingulateCortex45.75
Colorectaladenocarcinoma64.65
DorsalRootGanglion63.95
FetalThyroid48.95
Fetalbrain37.3
Fetalliver38.2
Fetallung46.25
GlobusPallidus28.9
Heart501.5
Hypothalamus54.35
Kidney62.5
Leukemia_chronicMyelogenousK-56232.9
Leukemia_promyelocytic-HL-6032.15
Leukemialymphoblastic(MOLT-4)27.2
Liver1145.65
Lung3298.05
Lymphnode151.25
Lymphoma_burkitts(Daudi)45.05
Lymphoma_burkitts(Raji)57.85
MedullaOblongata37.95
OccipitalLobe46.9
OlfactoryBulb79.7
Ovary29.2
Pancreas35.3
PancreaticIslet49.8
ParietalLobe45.9
Pituitary50.1
Placenta67.6
Pons41.5
PrefrontalCortex56.7
Prostate243.05
Salivarygland31.85
SkeletalMuscle40.55
Skin30.05
SmoothMuscle49.05
Spinalcord74.55
SubthalamicNucleus34.75
SuperiorCervicalGanglion41.5
TemporalLobe37.2
Testis50.15
TestisGermCell34.7
TestisIntersitial36
TestisLeydigCell39.55
TestisSeminiferousTubule33.65
Thalamus48.25
Thymus36
Thyroid212.2
Tongue41.5
Tonsil42.65
Trachea37.65
TrigeminalGanglion35.4
Uterus42.75
UterusCorpus32.1
WholeBlood156.7
Wholebrain76.55
colon43.35
pineal_day217.36
pineal_night370.6
retina1669.7
small_intestine43.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P52556
  • 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
Amygdala5.1 ± 0.62
Basal Forebrain4.88 ± 0.33
Basal Part of Pons5.91 ± 0.5
Cerebellar Cortex5.61 ± 0.7
Cerebellar Nuclei5.37 ± 0.53
Claustrum4.8 ± 0.86
Epithalamus5.68 ± 0.78
Frontal Lobe5.82 ± 0.6
Globus Pallidus5.33 ± 0.45
Hypothalamus5.78 ± 0.72
Insula5.55 ± 0.52
Limbic Lobe5.25 ± 0.6
Mesencephalon5.43 ± 0.63
Myelencephalon5.48 ± 0.72
Occipital Lobe4.86 ± 0.56
Parietal Lobe5.4 ± 0.62
Pontine Tegmentum5.36 ± 0.6
Striatum4.9 ± 0.57
Subthalamus6.14 ± 0.19
Temporal Lobe5.65 ± 0.57
Thalamus5.58 ± 0.61
White Matter5.69 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CtsdCBCerebellum100
100
CtsdCTXCerebral cortex100
100
CtsdHIPHippocampal region100
100
CtsdHPFHippocampal formation100
100
CtsdHYHypothalamus100
100
CtsdLSXLateral septal complex100
100
CtsdMBMidbrain100
100
CtsdMYMedulla100
100
CtsdOLFOlfactory bulb100
100
CtsdPPons100
100
CtsdPALPallidum100
100
CtsdRHPRetrohippocampal region100
100
CtsdsAMYStriatum-like amygdalar nuclei100
100
CtsdSTRStriatum100
100
CtsdSTRdStriatum dorsal region100
100
CtsdSTRvStriatum ventral region100
100
CtsdTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CATD_HUMAN_0 0 0 0 AIGAVPLIQGEYMIPCEK PRIDE
CATD_HUMAN_0 0 0 0 DPDAQPGGELMLGGTDSK PRIDE
CATD_HUMAN_0 0 0 0 FDGILGMAYPR PRIDE
CATD_HUMAN_0 0 0 0 LVDQNIFSFYLSR PRIDE
CATD_HUMAN_0 0 0 0 VSTLPAITLK PRIDE
CATD_HUMAN_0 0 0 0 YYTVFDRDNNR PRIDE
CATD_HUMAN_111 11 111 121 LLDIACWIHHK PRIDE
CATD_HUMAN_111 16 111 126 LLDIACWIHHKYNSDK PRIDE
CATD_HUMAN_112 11 112 122 LLDIACWIHHK PRIDE
CATD_HUMAN_169 8 169 176 LGGVKVER PRIDE
CATD_HUMAN_176 18 176 193 QVFGEATKQPGITFIAAK PRIDE
CATD_HUMAN_176 29 176 204 QVFGEATKQPGITFIAAKFDGILGMAYPR PRIDE
CATD_HUMAN_177 14 177 190 QVFGEATKQPGITF PRIDE
CATD_HUMAN_184 10 184 193 QPGITFIAAK PRIDE
CATD_HUMAN_184 21 184 204 QPGITFIAAKFDGILGMAYPR PRIDE
CATD_HUMAN_194 11 194 204 FDGILGMAYPR PRIDE
CATD_HUMAN_195 11 195 205 FDGILGMAYPR PRIDE
CATD_HUMAN_205 17 205 221 ISVNNVLPVFDNLMQQK PRIDE
CATD_HUMAN_206 17 206 222 ISVNNVLPVFDNLMQQK PRIDE
CATD_HUMAN_222 13 222 234 LVDQNIFSFYLSR PRIDE
CATD_HUMAN_222 31 222 252 LVDQNIFSFYLSRDPDAQPGGELMLGGTDSK PRIDE
CATD_HUMAN_223 13 223 235 LVDQNIFSFYLSR PRIDE
CATD_HUMAN_235 18 235 252 DPDAQPGGELMLGGTDSK PRIDE
CATD_HUMAN_257 10 257 266 GSLSYLNVTR PRIDE
CATD_HUMAN_266 21 266 286 KAYWQVHLDQVEVASGLTLCK PRIDE
CATD_HUMAN_267 20 267 286 AYWQVHLDQVEVASGLTLCK PRIDE
CATD_HUMAN_287 22 287 308 EGCEAIVDTGTSLMVGPVDEVR PRIDE
CATD_HUMAN_313 18 313 330 AIGAVPLIQGEYMIPCEK PRIDE
CATD_HUMAN_331 10 331 340 VSTLPAITLK PRIDE
CATD_HUMAN_332 10 332 341 VSTLPAITLK PRIDE
CATD_HUMAN_341 16 341 356 LGGKGYKLSPEDYTLK PRIDE
CATD_HUMAN_345 12 345 356 GYKLSPEDYTLK PRIDE
CATD_HUMAN_348 15 348 362 LSPEDYTLKVSQAGK PRIDE
CATD_HUMAN_348 9 348 356 LSPEDYTLK PRIDE
CATD_HUMAN_349 9 349 357 LSPEDYTLK PRIDE
CATD_HUMAN_392 11 392 402 YYTVFDRDNNR PRIDE
CATD_HUMAN_403 9 403 411 VGFAEAARL PRIDE
PAp00000431 18 314 331 AIGAVPLIQGEYMIPCEK 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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