AutismKB 2.0

Annotation Detail for COMT


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Basic Information Top
Gene Symbol:COMT ( - )
Gene Full Name: catechol-O-methyltransferase
Band: 22q11.21
Quick LinksEntrez ID:1312; OMIM: 116790; Uniprot ID:COMT_HUMAN; ENSEMBL ID: ENSG00000093010; HGNC ID: 2228
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 body0 / 707610 
blastocyst0 / 623190 
fetus55 / 56401297
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult263 / 1939121135
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor14 / 94178148
cervical tumor3 / 3436687
chondrosarcoma16 / 82823193
colorectal tumor23 / 114246201
esophageal tumor1 / 1729057
gastrointestinal tumor18 / 119369150
germ cell tumor21 / 26384579
glioma27 / 106883252
head and neck tumor10 / 13630273
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor6 / 9635962
lung tumor9 / 10312787
lymphoma14 / 71755195
non-neoplasia8 / 9725082
normal378 / 3360307112
ovarian tumor13 / 76682169
pancreatic tumor20 / 104616191
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer17 / 102680165
retinoblastoma5 / 46356107
skin tumor162 / 1249491296
soft tissue/muscle tissue tumor23 / 125191183
uterine tumor12 / 90257132
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal5 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites1 / 4001524
bladder4 / 29757134
blood6 / 12347848
bone14 / 71655195
bone marrow3 / 4880161
brain119 / 1100989108
cervix3 / 4817162
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus2 / 2020998
eye44 / 211054208
heart9 / 89626100
intestine39 / 234472166
kidney25 / 211777118
larynx0 / 241450 
liver11 / 20774352
lung44 / 336974130
lymph6 / 44270135
lymph node15 / 91610163
mammary gland16 / 153271104
mouth5 / 6705274
muscle23 / 107715213
nerve2 / 15768126
ovary16 / 102051156
pancreas42 / 214812195
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta71 / 280825252
prostate35 / 189345184
salivary gland2 / 2015599
skin184 / 210574873
spleen0 / 539520 
stomach12 / 96619124
testis8 / 33044224
thymus1 / 8113112
thyroid3 / 4747363
tonsil5 / 16999294
trachea0 / 524130 
umbilical cord0 / 136800 
uterus16 / 23287868
vascular4 / 5178077
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208818_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts822.45
Adipocyte404.25
AdrenalCortex329.45
Adrenalgland1044.85
Amygdala495.4
Appendix81.5
AtrioventricularNode157.85
BDCA4+_DentriticCells1005.7
Bonemarrow274.35
BronchialEpithelialCells618.1
CD105+_Endothelial298.25
CD14+_Monocytes1101.05
CD19+_BCells(neg._sel.)369.8
CD33+_Myeloid1046.6
CD34+1037.6
CD4+_Tcells239.5
CD56+_NKCells432.65
CD71+_EarlyErythroid273.9
CD8+_Tcells219.8
CardiacMyocytes526.8
Caudatenucleus458.9
Cerebellum401.8
CerebellumPeduncles410.5
CiliaryGanglion159
CingulateCortex281.7
Colorectaladenocarcinoma163.6
DorsalRootGanglion214
FetalThyroid323.6
Fetalbrain332.7
Fetalliver210.6
Fetallung472.55
GlobusPallidus162.5
Heart476.2
Hypothalamus585.8
Kidney404.45
Leukemia_chronicMyelogenousK-5622624.1
Leukemia_promyelocytic-HL-60368.1
Leukemialymphoblastic(MOLT-4)356.95
Liver5648.8
Lung2156.4
Lymphnode273.2
Lymphoma_burkitts(Daudi)409.4
Lymphoma_burkitts(Raji)1068.85
MedullaOblongata250.1
OccipitalLobe322.65
OlfactoryBulb883.2
Ovary119.75
Pancreas274.55
PancreaticIslet265.95
ParietalLobe278.65
Pituitary275.15
Placenta1426.1
Pons130.1
PrefrontalCortex514.5
Prostate1297.2
Salivarygland244.2
SkeletalMuscle132.2
Skin199.85
SmoothMuscle675.7
Spinalcord874.8
SubthalamicNucleus248
SuperiorCervicalGanglion154.9
TemporalLobe220.2
Testis360.25
TestisGermCell379
TestisIntersitial115
TestisLeydigCell137.7
TestisSeminiferousTubule128.75
Thalamus472.65
Thymus335.3
Thyroid661.45
Tongue338
Tonsil251.2
Trachea289.6
TrigeminalGanglion90.3
Uterus417.7
UterusCorpus171.15
WholeBlood487.3
Wholebrain632.5
colon308
pineal_day1016.48
pineal_night1080.2
retina790.725
small_intestine482.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1031_PI417557136
  • 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
Amygdala5.11 ± 0.48
Basal Forebrain5.44 ± 0.36
Basal Part of Pons4.97 ± 0.38
Cerebellar Cortex4.91 ± 0.18
Cerebellar Nuclei5.53 ± 0.36
Claustrum5.06 ± 0.43
Epithalamus5.82 ± 0.3
Frontal Lobe5.28 ± 0.41
Globus Pallidus6.45 ± 0.31
Hypothalamus5.05 ± 0.53
Insula5.08 ± 0.44
Limbic Lobe5.23 ± 0.49
Mesencephalon5.44 ± 0.46
Myelencephalon5.38 ± 0.47
Occipital Lobe5.25 ± 0.45
Parietal Lobe5.17 ± 0.43
Pontine Tegmentum5.26 ± 0.4
Striatum5.64 ± 0.34
Subthalamus5.1 ± 0.4
Temporal Lobe5.08 ± 0.42
Thalamus5.38 ± 0.51
White Matter6.87 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ComtCBCerebellum2.37
4.39
ComtCTXCerebral cortex47.5
47.13
ComtHIPHippocampal region38.79
89.52
ComtHPFHippocampal formation33.76
66.17
ComtHYHypothalamus31.59
32
ComtLSXLateral septal complex8.89
8.08
ComtMBMidbrain3.25
5.52
ComtMYMedulla1.3
2.85
ComtOLFOlfactory bulb31.44
41.5
ComtPPons7.49
14.62
ComtPALPallidum39.94
46.65
ComtRHPRetrohippocampal region22.64
25.3
ComtsAMYStriatum-like amygdalar nuclei57.16
52.63
ComtSTRStriatum66.65
62.16
ComtSTRdStriatum dorsal region80.9
74.42
ComtSTRvStriatum ventral region58.94
56.82
ComtTHThalamus60.21
73.84
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
COMT_HUMAN_0 0 0 0 AIYKGPGSEAGP PRIDE
COMT_HUMAN_135 16 135 150 LITIEINPDCAAITQR PRIDE
COMT_HUMAN_178 16 178 193 KYDVDTLDMVFLDHWK PRIDE
COMT_HUMAN_194 17 194 210 DRYLPDTLLLEECGLLR PRIDE
COMT_HUMAN_196 15 196 210 YLPDTLLLEECGLLR PRIDE
COMT_HUMAN_211 23 211 233 KGTVLLADNVICPGAPDFLAHVR PRIDE
COMT_HUMAN_212 22 212 233 GTVLLADNVICPGAPDFLAHVR PRIDE
COMT_HUMAN_259 12 259 270 AIYKGPGSEAGP PRIDE
COMT_HUMAN_58 28 58 85 ILNHVLQHAEPGNAQSVLEAIDTYCEQK PRIDE
COMT_HUMAN_58 38 58 95 ILNHVLQHAEPGNAQSVLEAIDTYCEQKEWAMNVGDKK PRIDE
COMT_HUMAN_98 27 98 124 IVDAVIQEHQPSVLLELGAYCGYSAVR PRIDE
PAp00001789 17 195 211 DRYLPDTLLLEECGLLR 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