AutismKB 2.0

Annotation Detail for ACO2


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Basic Information Top
Gene Symbol:ACO2 ( ACONM,MGC20605,MGC33908 )
Gene Full Name: aconitase 2, mitochondrial
Band: 22q13.2
Quick LinksEntrez ID:50; OMIM: 100850; Uniprot ID:ACON_HUMAN; ENSEMBL ID: ENSG00000100412; HGNC ID: 118
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 body3 / 7076142
blastocyst6 / 6231996
fetus73 / 564012129
neonate0 / 310970 
infant3 / 23620127
juvenile25 / 55556449
adult368 / 1939121189
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor20 / 94178212
cervical tumor3 / 3436687
chondrosarcoma23 / 82823277
colorectal tumor19 / 114246166
esophageal tumor1 / 1729057
gastrointestinal tumor14 / 119369117
germ cell tumor33 / 263845125
glioma36 / 106883336
head and neck tumor21 / 136302154
kidney tumor7 / 68959101
leukemia30 / 95842313
liver tumor12 / 96359124
lung tumor15 / 103127145
lymphoma34 / 71755473
non-neoplasia12 / 97250123
normal453 / 3360307134
ovarian tumor12 / 76682156
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS60 / 125680477
prostate cancer19 / 102680185
retinoblastoma8 / 46356172
skin tumor70 / 124949560
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue8 / 13106610
adrenal gland3 / 3319790
ascites7 / 40015174
bladder2 / 2975767
blood28 / 123478226
bone13 / 71655181
bone marrow3 / 4880161
brain188 / 1100989170
cervix12 / 48171249
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue19 / 21572288
esophagus1 / 2020949
eye31 / 211054146
heart23 / 89626256
intestine43 / 234472183
kidney25 / 211777118
larynx5 / 24145207
liver28 / 207743134
lung53 / 336974157
lymph17 / 44270384
lymph node7 / 9161076
mammary gland30 / 153271195
mouth4 / 6705259
muscle21 / 107715194
nerve3 / 15768190
ovary13 / 102051127
pancreas19 / 21481288
parathyroid9 / 20539438
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta44 / 280825156
prostate33 / 189345174
salivary gland1 / 2015549
skin89 / 210574422
spleen4 / 5395274
stomach13 / 96619134
testis22 / 33044266
thymus4 / 8113149
thyroid39 / 47473821
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus32 / 232878137
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200793_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1043.85
Adipocyte595.8
AdrenalCortex197.3
Adrenalgland207.6
Amygdala910.05
Appendix67.4
AtrioventricularNode75.2
BDCA4+_DentriticCells509.5
Bonemarrow99.8
BronchialEpithelialCells239.15
CD105+_Endothelial323.55
CD14+_Monocytes425.9
CD19+_BCells(neg._sel.)327.6
CD33+_Myeloid500.15
CD34+331.6
CD4+_Tcells186.95
CD56+_NKCells522.7
CD71+_EarlyErythroid358.6
CD8+_Tcells197.1
CardiacMyocytes218.1
Caudatenucleus533.1
Cerebellum526.3
CerebellumPeduncles702
CiliaryGanglion73.55
CingulateCortex690.5
Colorectaladenocarcinoma185.8
DorsalRootGanglion115.1
FetalThyroid246.7
Fetalbrain201.95
Fetalliver119
Fetallung141.4
GlobusPallidus330.75
Heart3142.35
Hypothalamus821.2
Kidney738.55
Leukemia_chronicMyelogenousK-562243.1
Leukemia_promyelocytic-HL-60238.1
Leukemialymphoblastic(MOLT-4)178.1
Liver530.95
Lung345.05
Lymphnode128.45
Lymphoma_burkitts(Daudi)410.4
Lymphoma_burkitts(Raji)855.6
MedullaOblongata457.8
OccipitalLobe710.3
OlfactoryBulb203.05
Ovary57.3
Pancreas65
PancreaticIslet175.05
ParietalLobe714.55
Pituitary166
Placenta259.7
Pons336.7
PrefrontalCortex1341.65
Prostate354.2
Salivarygland168.25
SkeletalMuscle526.9
Skin51.1
SmoothMuscle187.75
Spinalcord551.2
SubthalamicNucleus424.1
SuperiorCervicalGanglion43.35
TemporalLobe471.05
Testis181.9
TestisGermCell185.75
TestisIntersitial93.35
TestisLeydigCell131.95
TestisSeminiferousTubule101.8
Thalamus910.65
Thymus265.45
Thyroid673.25
Tongue342.95
Tonsil185.5
Trachea137.25
TrigeminalGanglion73.5
Uterus130.15
UterusCorpus130.5
WholeBlood128.55
Wholebrain1302.4
colon621
pineal_day1088.78
pineal_night1052.28
retina644.7
small_intestine617.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P305481
  • 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
Amygdala9.51 ± 0.45
Basal Forebrain9.7 ± 0.2
Basal Part of Pons10.12 ± 0.31
Cerebellar Cortex9.52 ± 0.31
Cerebellar Nuclei9.72 ± 0.32
Claustrum9.23 ± 0.57
Epithalamus9.86 ± 0.33
Frontal Lobe9.93 ± 0.34
Globus Pallidus9.31 ± 0.32
Hypothalamus9.73 ± 0.28
Insula9.88 ± 0.36
Limbic Lobe9.58 ± 0.5
Mesencephalon9.56 ± 0.41
Myelencephalon9.69 ± 0.44
Occipital Lobe9.22 ± 0.52
Parietal Lobe9.77 ± 0.41
Pontine Tegmentum9.71 ± 0.38
Striatum9.68 ± 0.45
Subthalamus10 ± 0.26
Temporal Lobe9.91 ± 0.33
Thalamus9.92 ± 0.33
White Matter8.86 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aco2CBCerebellum76.98
100
Aco2CTXCerebral cortex100
100
Aco2HIPHippocampal region100
100
Aco2HPFHippocampal formation100
100
Aco2HYHypothalamus100
100
Aco2LSXLateral septal complex100
100
Aco2MBMidbrain100
100
Aco2MYMedulla100
100
Aco2OLFOlfactory bulb100
100
Aco2PPons100
100
Aco2PALPallidum100
100
Aco2RHPRetrohippocampal region100
100
Aco2sAMYStriatum-like amygdalar nuclei100
100
Aco2STRStriatum100
100
Aco2STRdStriatum dorsal region100
100
Aco2STRvStriatum ventral region100
100
Aco2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACON_HUMAN_0 0 0 0 IVYGHLDDPASQEIER PRIDE
ACON_HUMAN_0 0 0 0 VAMQDATAQMAMLQFISSGLSK PRIDE
ACON_HUMAN_118 21 118 138 VAVPSTIHCDHLIEAQVGGEK PRIDE
ACON_HUMAN_118 24 118 141 VAVPSTIHCDHLIEAQVGGEKDLR PRIDE
ACON_HUMAN_143 18 143 160 AKDINQEVYNFLATAGAK PRIDE
ACON_HUMAN_144 16 144 159 DINQEVYNFLATAGAK PRIDE
ACON_HUMAN_145 16 145 160 DINQEVYNFLATAGAK PRIDE
ACON_HUMAN_19 11 19 29 QYHVASVLCQR PRIDE
ACON_HUMAN_233 12 233 244 LTGSLSGWSSPK PRIDE
ACON_HUMAN_234 12 234 245 LTGSLSGWSSPK PRIDE
ACON_HUMAN_246 5 246 250 DVILK PRIDE
ACON_HUMAN_251 8 251 258 VAGILTVK PRIDE
ACON_HUMAN_31 19 31 49 VAMSHFEPNEYIHYDLLEK PRIDE
ACON_HUMAN_310 14 310 323 TGREDIANLADEFK PRIDE
ACON_HUMAN_32 19 32 50 VAMSHFEPNEYIHYDLLEK PRIDE
ACON_HUMAN_366 12 366 377 VAEKEGWPLDIR PRIDE
ACON_HUMAN_367 12 367 378 VAEKEGWPLDIR PRIDE
ACON_HUMAN_367 4 367 370 VAEK PRIDE
ACON_HUMAN_371 8 371 378 EGWPLDIR PRIDE
ACON_HUMAN_378 17 378 394 VGLIGSCTNSSYEDMGR PRIDE
ACON_HUMAN_410 15 410 424 CKSQFTITPGSEQIR PRIDE
ACON_HUMAN_411 13 411 423 SQFTITPGSEQIR PRIDE
ACON_HUMAN_412 13 412 424 SQFTITPGSEQIR PRIDE
ACON_HUMAN_412 18 412 429 SQFTITPGSEQIRATIER PRIDE
ACON_HUMAN_430 8 430 437 DGYAQILR PRIDE
ACON_HUMAN_438 20 438 457 DLGGIVLANACGPCIGQWDR PRIDE
ACON_HUMAN_438 21 438 458 DLGGIVLANACGPCIGQWDRK PRIDE
ACON_HUMAN_466 9 466 474 NTIVTSYNR PRIDE
ACON_HUMAN_479 27 479 505 NDANPETHAFVTSPEIVTALAIAGTLK PRIDE
ACON_HUMAN_480 27 480 506 NDANPETHAFVTSPEIVTALAIAGTLK PRIDE
ACON_HUMAN_506 15 506 520 FNPETDYLTGTDGKK PRIDE
ACON_HUMAN_507 14 507 520 FNPETDYLTGTDGK PRIDE
ACON_HUMAN_507 15 507 521 FNPETDYLTGTDGKK PRIDE
ACON_HUMAN_51 6 51 56 NINIVR PRIDE
ACON_HUMAN_522 13 522 534 FRLEAPDADELPK PRIDE
ACON_HUMAN_524 11 524 534 LEAPDADELPK PRIDE
ACON_HUMAN_524 26 524 549 LEAPDADELPKGEFDPGQDTYQHPPK PRIDE
ACON_HUMAN_535 15 535 549 GEFDPGQDTYQHPPK PRIDE
ACON_HUMAN_550 15 550 564 DSSGQHVDVSPTSQR PRIDE
ACON_HUMAN_564 23 564 586 LQLLEPFDKWDGKDLEDLQILIK PRIDE
ACON_HUMAN_565 13 565 577 LQLLEPFDKWDGK PRIDE
ACON_HUMAN_565 9 565 573 LQLLEPFDK PRIDE
ACON_HUMAN_578 10 578 587 DLEDLQILIK PRIDE
ACON_HUMAN_59 10 59 68 LNRPLTLSEK PRIDE
ACON_HUMAN_592 14 592 605 CTTDHISAAGPWLK PRIDE
ACON_HUMAN_608 21 608 628 GHLDNISNNLLIGAINIENGK PRIDE
ACON_HUMAN_633 15 633 647 NAVTQEFGPVPDTAR PRIDE
ACON_HUMAN_634 15 634 648 NAVTQEFGPVPDTAR PRIDE
ACON_HUMAN_649 8 649 656 YYKKHGIR PRIDE
ACON_HUMAN_656 15 656 670 WVVIGDENYGEGSSR PRIDE
ACON_HUMAN_657 15 657 671 WVVIGDENYGEGSSR PRIDE
ACON_HUMAN_68 16 68 83 IVYGHLDDPASQEIER PRIDE
ACON_HUMAN_69 16 69 84 IVYGHLDDPASQEIER PRIDE
ACON_HUMAN_701 16 701 716 QGLLPLTFADPADYNK PRIDE
ACON_HUMAN_701 17 701 717 KQGLLPLTFADPADYNK PRIDE
ACON_HUMAN_702 16 702 717 QGLLPLTFADPADYNK PRIDE
ACON_HUMAN_724 7 724 730 LTIQGLK PRIDE
ACON_HUMAN_731 9 731 739 DFTPGKPLK PRIDE
ACON_HUMAN_744 24 744 767 HPNGTQETILLNHTFNETQIEWFR PRIDE
ACON_HUMAN_95 22 95 116 VAMQDATAQMAMLQFISSGLSK PRIDE
ACON_HUMAN_96 22 96 117 VAMQDATAQMAMLQFISSGLSK PRIDE
PAp00001116 15 410 424 CKSQFTITPGSEQIR 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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