AutismKB 2.0

Annotation Detail for HADHA


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Basic Information Top
Gene Symbol:HADHA ( ECHA,GBP,HADH,LCEH,LCHAD,MGC1728,MTPA,TP-ALPHA )
Gene Full Name: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
Band: 2p23.3
Quick LinksEntrez ID:3030; OMIM: 600890; Uniprot ID:ECHA_HUMAN; ENSEMBL ID: ENSG00000084754; HGNC ID: 4801
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 body13 / 70761183
blastocyst16 / 62319256
fetus137 / 564012242
neonate16 / 31097514
infant6 / 23620254
juvenile13 / 55556233
adult522 / 1939121269
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma7 / 17475400
breast (mammary gland) tumor28 / 94178297
cervical tumor15 / 34366436
chondrosarcoma23 / 82823277
colorectal tumor56 / 114246490
esophageal tumor4 / 17290231
gastrointestinal tumor22 / 119369184
germ cell tumor59 / 263845223
glioma30 / 106883280
head and neck tumor33 / 136302242
kidney tumor20 / 68959290
leukemia50 / 95842521
liver tumor23 / 96359238
lung tumor36 / 103127349
lymphoma33 / 71755459
non-neoplasia20 / 97250205
normal673 / 3360307200
ovarian tumor19 / 76682247
pancreatic tumor25 / 104616238
primitive neuroectodermal tumor of the CNS43 / 125680342
prostate cancer24 / 102680233
retinoblastoma21 / 46356453
skin tumor48 / 124949384
soft tissue/muscle tissue tumor41 / 125191327
uterine tumor66 / 90257731
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland7 / 33197210
ascites5 / 40015124
bladder13 / 29757436
blood36 / 123478291
bone11 / 71655153
bone marrow20 / 48801409
brain172 / 1100989156
cervix15 / 48171311
connective tissue20 / 149255133
ear1 / 1621261
embryonic tissue44 / 215722203
esophagus4 / 20209197
eye52 / 211054246
heart35 / 89626390
intestine107 / 234472456
kidney63 / 211777297
larynx19 / 24145786
liver40 / 207743192
lung85 / 336974252
lymph25 / 44270564
lymph node21 / 91610229
mammary gland52 / 153271339
mouth0 / 670520 
muscle45 / 107715417
nerve3 / 15768190
ovary29 / 102051284
pancreas38 / 214812176
parathyroid2 / 2053997
pharynx4 / 4132896
pituitary gland3 / 16585180
placenta62 / 280825220
prostate43 / 189345227
salivary gland6 / 20155297
skin74 / 210574351
spleen3 / 5395255
stomach13 / 96619134
testis78 / 330442236
thymus23 / 81131283
thyroid13 / 47473273
tonsil3 / 16999176
trachea5 / 5241395
umbilical cord3 / 13680219
uterus100 / 232878429
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208631_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts589.15
Adipocyte671.65
AdrenalCortex188.6
Adrenalgland163.25
Amygdala90.7
Appendix151.7
AtrioventricularNode95.35
BDCA4+_DentriticCells549.35
Bonemarrow173
BronchialEpithelialCells535.8
CD105+_Endothelial339.65
CD14+_Monocytes558.25
CD19+_BCells(neg._sel.)276.65
CD33+_Myeloid539.45
CD34+493.45
CD4+_Tcells316.05
CD56+_NKCells300.55
CD71+_EarlyErythroid519.2
CD8+_Tcells307.5
CardiacMyocytes275.55
Caudatenucleus126.2
Cerebellum89.7
CerebellumPeduncles183.8
CiliaryGanglion91.6
CingulateCortex136.25
Colorectaladenocarcinoma319.2
DorsalRootGanglion127.75
FetalThyroid176.35
Fetalbrain153.95
Fetalliver208.95
Fetallung241.9
GlobusPallidus46.9
Heart188.35
Hypothalamus238.4
Kidney211.6
Leukemia_chronicMyelogenousK-562373.05
Leukemia_promyelocytic-HL-60229.9
Leukemialymphoblastic(MOLT-4)260.4
Liver144.7
Lung140.55
Lymphnode168.15
Lymphoma_burkitts(Daudi)200
Lymphoma_burkitts(Raji)333.3
MedullaOblongata122.45
OccipitalLobe121.65
OlfactoryBulb166.8
Ovary160.8
Pancreas157.95
PancreaticIslet241.45
ParietalLobe155.25
Pituitary313.75
Placenta206.65
Pons92.95
PrefrontalCortex193.3
Prostate117.05
Salivarygland123.5
SkeletalMuscle215.95
Skin140.6
SmoothMuscle460.85
Spinalcord230.2
SubthalamicNucleus116.7
SuperiorCervicalGanglion90.1
TemporalLobe112.2
Testis161.55
TestisGermCell158.25
TestisIntersitial177
TestisLeydigCell159.85
TestisSeminiferousTubule138.7
Thalamus134.1
Thymus190.4
Thyroid228.05
Tongue185.3
Tonsil164.9
Trachea129.9
TrigeminalGanglion128.9
Uterus92.8
UterusCorpus131.35
WholeBlood283.6
Wholebrain69.7
colon365.6
pineal_day150.22
pineal_night152.62
retina313.525
small_intestine466.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P353964
  • 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
Amygdala6.9 ± 0.3
Basal Forebrain7.07 ± 0.13
Basal Part of Pons7.1 ± 0.21
Cerebellar Cortex7 ± 0.24
Cerebellar Nuclei7.11 ± 0.35
Claustrum6.56 ± 0.39
Epithalamus7.2 ± 0.33
Frontal Lobe6.95 ± 0.33
Globus Pallidus7.97 ± 0.36
Hypothalamus7.21 ± 0.34
Insula6.85 ± 0.26
Limbic Lobe6.84 ± 0.32
Mesencephalon7.11 ± 0.35
Myelencephalon6.99 ± 0.33
Occipital Lobe7.1 ± 0.27
Parietal Lobe6.97 ± 0.36
Pontine Tegmentum7.08 ± 0.32
Striatum7.19 ± 0.37
Subthalamus6.76 ± 0.61
Temporal Lobe6.86 ± 0.25
Thalamus7.19 ± 0.29
White Matter8.04 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
HadhaCBCerebellum21.36
27.81
HadhaCTXCerebral cortex32.24
24.24
HadhaHIPHippocampal region20.96
24.1
HadhaHPFHippocampal formation21.27
21.82
HadhaHYHypothalamus18.3
14.5
HadhaLSXLateral septal complex12.65
9.28
HadhaMBMidbrain18.87
19.02
HadhaMYMedulla36.37
46.45
HadhaOLFOlfactory bulb31.94
23.95
HadhaPPons29.74
35.24
HadhaPALPallidum25.84
23.05
HadhaRHPRetrohippocampal region22.68
18.38
HadhasAMYStriatum-like amygdalar nuclei26.9
19.2
HadhaSTRStriatum22.41
15.82
HadhaSTRdStriatum dorsal region23.28
16.68
HadhaSTRvStriatum ventral region27.9
18.11
HadhaTHThalamus31.82
27.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ECHA_HUMAN_0 0 0 0 TLQEVTQLSQEAQR PRIDE
ECHA_HUMAN_0 0 0 0 TVLGTPEVLLGALPGAGGTQR PRIDE
ECHA_HUMAN_111 14 111 124 TLQEVTQLSQEAQR PRIDE
ECHA_HUMAN_112 14 112 125 TLQEVTQLSQEAQR PRIDE
ECHA_HUMAN_166 21 166 186 TVLGTPEVLLGALPGAGGTQR PRIDE
ECHA_HUMAN_166 24 166 189 TVLGTPEVLLGALPGAGGTQRLPK PRIDE
ECHA_HUMAN_167 21 167 187 TVLGTPEVLLGALPGAGGTQR PRIDE
ECHA_HUMAN_190 15 190 204 MVGVPAALDMMLTGR PRIDE
ECHA_HUMAN_191 15 191 205 MVGVPAALDMMLTGR PRIDE
ECHA_HUMAN_214 21 214 234 MGLVDQLVEPLGPGLKPPEER PRIDE
ECHA_HUMAN_235 14 235 248 TIEYLEEVAITFAK PRIDE
ECHA_HUMAN_267 12 267 278 LTAYAMTIPFVR PRIDE
ECHA_HUMAN_268 12 268 279 LTAYAMTIPFVR PRIDE
ECHA_HUMAN_280 12 280 291 QQVYKKVEEKVR PRIDE
ECHA_HUMAN_309 17 309 325 TGIEQGSDAGYLCESQK PRIDE
ECHA_HUMAN_327 8 327 334 FGELVMTK PRIDE
ECHA_HUMAN_338 13 338 350 ALMGLYHGQVLCK PRIDE
ECHA_HUMAN_338 14 338 351 ALMGLYHGQVLCKK PRIDE
ECHA_HUMAN_363 21 363 383 HLAILGAGLMGAGIAQVSVDK PRIDE
ECHA_HUMAN_391 9 391 399 DATLTALDR PRIDE
ECHA_HUMAN_423 18 423 440 DSIFSNLTGQLDYQGFEK PRIDE
ECHA_HUMAN_440 15 440 454 ADMVIEAVFEDLSLK PRIDE
ECHA_HUMAN_461 29 461 489 EVEAVIPDHCIFASNTSALPISEIAAVSK PRIDE
ECHA_HUMAN_493 23 493 515 VIGMHYFSPVDKMQLLEIITTEK PRIDE
ECHA_HUMAN_494 12 494 505 VIGMHYFSPVDK PRIDE
ECHA_HUMAN_505 11 505 515 MQLLEIITTEK PRIDE
ECHA_HUMAN_506 11 506 516 MQLLEIITTEK PRIDE
ECHA_HUMAN_519 12 519 530 DTSASAVAVGLK PRIDE
ECHA_HUMAN_561 9 561 569 ILQEGVDPK PRIDE
ECHA_HUMAN_569 28 569 596 KLDSLTTSFGFPVGAATLVDEVGVDVAK PRIDE
ECHA_HUMAN_570 28 570 597 KLDSLTTSFGFPVGAATLVDEVGVDVAK PRIDE
ECHA_HUMAN_610 15 610 624 FGGGNPELLTQMVSK PRIDE
ECHA_HUMAN_611 15 611 625 FGGGNPELLTQMVSK PRIDE
ECHA_HUMAN_634 10 634 643 GFYIYQEGVK PRIDE
ECHA_HUMAN_635 10 635 644 GFYIYQEGVK PRIDE
ECHA_HUMAN_646 14 646 659 DLNSDMDSILASLK PRIDE
ECHA_HUMAN_647 14 647 660 DLNSDMDSILASLK PRIDE
ECHA_HUMAN_66 20 66 85 ELHSEFSEVMNEIWASDQIR PRIDE
ECHA_HUMAN_660 16 660 675 LPPKSEVSSDEDIQFR PRIDE
ECHA_HUMAN_664 12 664 675 SEVSSDEDIQFR PRIDE
ECHA_HUMAN_665 12 665 676 SEVSSDEDIQFR PRIDE
ECHA_HUMAN_67 20 67 86 ELHSEFSEVMNEIWASDQIR PRIDE
ECHA_HUMAN_719 9 719 727 FVDLYGAQK PRIDE
ECHA_HUMAN_720 9 720 728 FVDLYGAQK PRIDE
ECHA_HUMAN_742 18 742 759 QFTPCQLLADHANSPNKK PRIDE
ECHA_HUMAN_743 17 743 759 QFTPCQLLADHANSPNK PRIDE
PAp00000542 13 338 350 ALMGLYHGQVLCK 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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