AutismKB 2.0

Annotation Detail for AASDH


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Basic Information Top
Gene Symbol:AASDH ( ACSF4,LYS2,NRPS1098,NRPS998 )
Gene Full Name: aminoadipate-semialdehyde dehydrogenase
Band: 4q12
Quick LinksEntrez ID:132949; OMIM: NA; Uniprot ID:ACSF4_HUMAN; ENSEMBL ID: ENSG00000157426; HGNC ID: 23993
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 
blastocyst2 / 6231932
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult28 / 193912114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal69 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites3 / 4001574
bladder1 / 2975733
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain19 / 110098917
cervix0 / 481710 
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine2 / 2344728
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung9 / 33697426
lymph0 / 442700 
lymph node3 / 9161032
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta7 / 28082524
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P383076
  • 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
Amygdala5.82 ± 0.42
Basal Forebrain5.68 ± 0.35
Basal Part of Pons5.73 ± 0.38
Cerebellar Cortex5.96 ± 0.23
Cerebellar Nuclei5.64 ± 0.29
Claustrum5.51 ± 0.81
Epithalamus6.12 ± 0.26
Frontal Lobe5.48 ± 0.41
Globus Pallidus5.91 ± 0.33
Hypothalamus5.77 ± 0.4
Insula5.48 ± 0.31
Limbic Lobe5.48 ± 0.39
Mesencephalon5.67 ± 0.5
Myelencephalon5.59 ± 0.43
Occipital Lobe5.91 ± 0.34
Parietal Lobe5.67 ± 0.4
Pontine Tegmentum5.68 ± 0.41
Striatum5.42 ± 0.51
Subthalamus5.64 ± 0.5
Temporal Lobe5.61 ± 0.3
Thalamus5.54 ± 0.37
White Matter6.28 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
A230062G08RikCBCerebellum10.54
10.96
A230062G08RikCTXCerebral cortex6.79
4.32
A230062G08RikHIPHippocampal region9.97
10.31
A230062G08RikHPFHippocampal formation10.92
9.6
A230062G08RikHYHypothalamus0.89
0.57
A230062G08RikLSXLateral septal complex0.78
0.45
A230062G08RikMBMidbrain1.69
1.34
A230062G08RikMYMedulla2.6
2.85
A230062G08RikOLFOlfactory bulb8
5.34
A230062G08RikPPons1.96
1.84
A230062G08RikPALPallidum0.8
0.62
A230062G08RikRHPRetrohippocampal region12.93
8.88
A230062G08RiksAMYStriatum-like amygdalar nuclei3.3
2.07
A230062G08RikSTRStriatum1.4
0.92
A230062G08RikSTRdStriatum dorsal region1.21
0.82
A230062G08RikSTRvStriatum ventral region1.29
0.82
A230062G08RikTHThalamus2.65
2.06
Peptide Top

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