AutismKB 2.0

Annotation Detail for ALDH7A1


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Basic Information Top
Gene Symbol:ALDH7A1 ( ATQ1,EPD,FLJ11738,FLJ92814,PDE )
Gene Full Name: aldehyde dehydrogenase 7 family, member A1
Band: 5q23.2
Quick LinksEntrez ID:501; OMIM: 107323; Uniprot ID:AL7A1_HUMAN; ENSEMBL ID: ENSG00000164904; HGNC ID: 877
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 body7 / 7076198
blastocyst11 / 62319176
fetus80 / 564012141
neonate5 / 31097160
infant5 / 23620211
juvenile10 / 55556179
adult229 / 1939121118
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma2 / 17475114
breast (mammary gland) tumor8 / 9417884
cervical tumor8 / 34366232
chondrosarcoma5 / 8282360
colorectal tumor8 / 11424670
esophageal tumor2 / 17290115
gastrointestinal tumor13 / 119369108
germ cell tumor60 / 263845227
glioma11 / 106883102
head and neck tumor15 / 136302110
kidney tumor9 / 68959130
leukemia5 / 9584252
liver tumor19 / 96359197
lung tumor14 / 103127135
lymphoma0 / 717550 
non-neoplasia15 / 97250154
normal413 / 3360307122
ovarian tumor12 / 76682156
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer7 / 10268068
retinoblastoma24 / 46356517
skin tumor16 / 124949128
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor13 / 90257144
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
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 
normal4 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
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 gland8 / 33197240
ascites5 / 40015124
bladder2 / 2975767
blood0 / 1234780 
bone2 / 7165527
bone marrow1 / 4880120
brain168 / 1100989152
cervix11 / 48171228
connective tissue13 / 14925587
ear5 / 16212308
embryonic tissue39 / 215722180
esophagus3 / 20209148
eye34 / 211054161
heart11 / 89626122
intestine22 / 23447293
kidney25 / 211777118
larynx12 / 24145496
liver40 / 207743192
lung28 / 33697483
lymph0 / 442700 
lymph node4 / 9161043
mammary gland11 / 15327171
mouth1 / 6705214
muscle7 / 10771564
nerve0 / 157680 
ovary20 / 102051195
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta97 / 280825345
prostate14 / 18934573
salivary gland1 / 2015549
skin21 / 21057499
spleen1 / 5395218
stomach7 / 9661972
testis37 / 330442111
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus35 / 232878150
vascular0 / 517800 
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 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
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: 213591_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.9
Adipocyte13.85
AdrenalCortex22.65
Adrenalgland14.1
Amygdala18.4
Appendix20.75
AtrioventricularNode25.1
BDCA4+_DentriticCells11.05
Bonemarrow16.45
BronchialEpithelialCells13.4
CD105+_Endothelial13.9
CD14+_Monocytes11.8
CD19+_BCells(neg._sel.)13.7
CD33+_Myeloid16.15
CD34+15.4
CD4+_Tcells12.7
CD56+_NKCells13.85
CD71+_EarlyErythroid14.9
CD8+_Tcells10.8
CardiacMyocytes32.4
Caudatenucleus20.2
Cerebellum12.2
CerebellumPeduncles21.55
CiliaryGanglion20.65
CingulateCortex18.3
Colorectaladenocarcinoma14.45
DorsalRootGanglion16.1
FetalThyroid15.45
Fetalbrain15.4
Fetalliver13
Fetallung9.6
GlobusPallidus16.9
Heart28.5
Hypothalamus28.45
Kidney14.8
Leukemia_chronicMyelogenousK-56212.25
Leukemia_promyelocytic-HL-6011.3
Leukemialymphoblastic(MOLT-4)10.25
Liver27.35
Lung14.95
Lymphnode11.3
Lymphoma_burkitts(Daudi)20.45
Lymphoma_burkitts(Raji)24.4
MedullaOblongata12.45
OccipitalLobe15.25
OlfactoryBulb11.25
Ovary20.25
Pancreas13.75
PancreaticIslet15.9
ParietalLobe20.65
Pituitary16.85
Placenta12.5
Pons14.85
PrefrontalCortex21.45
Prostate15.75
Salivarygland12.8
SkeletalMuscle34.7
Skin17.55
SmoothMuscle16.25
Spinalcord27.15
SubthalamicNucleus17.7
SuperiorCervicalGanglion35.25
TemporalLobe23.85
Testis12.2
TestisGermCell10.9
TestisIntersitial15.7
TestisLeydigCell20.7
TestisSeminiferousTubule12.75
Thalamus18.4
Thymus9.7
Thyroid18.6
Tongue21.35
Tonsil15.35
Trachea11.45
TrigeminalGanglion21.45
Uterus7.95
UterusCorpus17.9
WholeBlood12.5
Wholebrain11
colon13.75
pineal_day19.48
pineal_night17.38
retina23.5
small_intestine13.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P269006
  • 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
Amygdala7.86 ± 0.52
Basal Forebrain8.11 ± 0.12
Basal Part of Pons7.3 ± 0.56
Cerebellar Cortex7.11 ± 0.16
Cerebellar Nuclei6.6 ± 0.68
Claustrum7.05 ± 0.75
Epithalamus8 ± 0.33
Frontal Lobe7.52 ± 0.45
Globus Pallidus8.8 ± 0.42
Hypothalamus7.82 ± 0.33
Insula7.56 ± 0.27
Limbic Lobe7.5 ± 0.53
Mesencephalon7.7 ± 0.62
Myelencephalon7.7 ± 0.49
Occipital Lobe7.53 ± 0.48
Parietal Lobe7.62 ± 0.52
Pontine Tegmentum7.58 ± 0.46
Striatum8.4 ± 0.28
Subthalamus7.14 ± 0.63
Temporal Lobe7.69 ± 0.41
Thalamus7.88 ± 0.48
White Matter8.01 ± 0.26
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AL7A1_HUMAN_190 14 190 203 GAPTTSLISVAVTK PRIDE
AL7A1_HUMAN_306 15 306 320 RLFIHESIHDEVVNR PRIDE
AL7A1_HUMAN_347 14 347 360 QAVSMFLGAVEEAK PRIDE
AL7A1_HUMAN_96 14 96 109 IQVLGSLVSLEMGK PRIDE
PAp00002774 17 63 79 GEVITTYCPANNEPIAR 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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