AutismKB 2.0

Annotation Detail for ASAH1


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Basic Information Top
Gene Symbol:ASAH1 ( AC,ACDase,ASAH,FLJ21558,FLJ22079,PHP,PHP32 )
Gene Full Name: N-acylsphingosine amidohydrolase (acid ceramidase) 1
Band: 8p22
Quick LinksEntrez ID:427; OMIM: 613468; Uniprot ID:ASAH1_HUMAN; ENSEMBL ID: ENSG00000104763; HGNC ID: 735
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
blastocyst5 / 6231980
fetus105 / 564012186
neonate41 / 310971318
infant0 / 236200 
juvenile22 / 55556395
adult482 / 1939121248
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma6 / 17475343
breast (mammary gland) tumor44 / 94178467
cervical tumor4 / 34366116
chondrosarcoma14 / 82823169
colorectal tumor4 / 11424635
esophageal tumor4 / 17290231
gastrointestinal tumor127 / 1193691063
germ cell tumor61 / 263845231
glioma8 / 10688374
head and neck tumor27 / 136302198
kidney tumor23 / 68959333
leukemia13 / 95842135
liver tumor24 / 96359249
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia31 / 97250318
normal935 / 3360307278
ovarian tumor3 / 7668239
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer17 / 102680165
retinoblastoma3 / 4635664
skin tumor29 / 124949232
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor18 / 90257199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland12 / 33197361
ascites4 / 4001599
bladder11 / 29757369
blood66 / 123478534
bone8 / 71655111
bone marrow11 / 48801225
brain413 / 1100989375
cervix5 / 48171103
connective tissue31 / 149255207
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus4 / 20209197
eye26 / 211054123
heart47 / 89626524
intestine32 / 234472136
kidney79 / 211777373
larynx2 / 2414582
liver39 / 207743187
lung64 / 336974189
lymph1 / 4427022
lymph node4 / 9161043
mammary gland49 / 153271319
mouth12 / 67052178
muscle15 / 107715139
nerve6 / 15768380
ovary5 / 10205148
pancreas25 / 214812116
parathyroid7 / 20539340
pharynx16 / 41328387
pituitary gland8 / 16585482
placenta69 / 280825245
prostate52 / 189345274
salivary gland3 / 20155148
skin44 / 210574208
spleen45 / 53952834
stomach126 / 966191304
testis41 / 330442124
thymus9 / 81131110
thyroid21 / 47473442
tonsil0 / 169990 
trachea22 / 52413419
umbilical cord0 / 136800 
uterus52 / 232878223
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210980_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts25.3
Adipocyte103.95
AdrenalCortex26.15
Adrenalgland33.15
Amygdala166.4
Appendix36.4
AtrioventricularNode9.4
BDCA4+_DentriticCells74.1
Bonemarrow33.5
BronchialEpithelialCells52.3
CD105+_Endothelial68.45
CD14+_Monocytes368.15
CD19+_BCells(neg._sel.)91.95
CD33+_Myeloid299
CD34+50.2
CD4+_Tcells24.45
CD56+_NKCells186.95
CD71+_EarlyErythroid28.7
CD8+_Tcells23.25
CardiacMyocytes20.2
Caudatenucleus60.3
Cerebellum25.25
CerebellumPeduncles42.2
CiliaryGanglion16.75
CingulateCortex45.05
Colorectaladenocarcinoma22.45
DorsalRootGanglion22.75
FetalThyroid194.05
Fetalbrain56.9
Fetalliver48.55
Fetallung87.35
GlobusPallidus22.25
Heart58.7
Hypothalamus186.25
Kidney130
Leukemia_chronicMyelogenousK-56231.45
Leukemia_promyelocytic-HL-6065.45
Leukemialymphoblastic(MOLT-4)12.9
Liver26.95
Lung220.4
Lymphnode159.7
Lymphoma_burkitts(Daudi)21.8
Lymphoma_burkitts(Raji)60.25
MedullaOblongata42.1
OccipitalLobe58.6
OlfactoryBulb113
Ovary11.7
Pancreas38.6
PancreaticIslet141.45
ParietalLobe48.15
Pituitary139.3
Placenta165.7
Pons25.2
PrefrontalCortex97.25
Prostate253.7
Salivarygland47.95
SkeletalMuscle21.35
Skin27.2
SmoothMuscle44.35
Spinalcord309.45
SubthalamicNucleus29.15
SuperiorCervicalGanglion36.1
TemporalLobe22.6
Testis15.95
TestisGermCell20.25
TestisIntersitial20.9
TestisLeydigCell13.45
TestisSeminiferousTubule12.8
Thalamus59.35
Thymus23.75
Thyroid988.85
Tongue55.05
Tonsil49.25
Trachea56.55
TrigeminalGanglion20.1
Uterus116.55
UterusCorpus39.05
WholeBlood465.7
Wholebrain59.85
colon133.4
pineal_day178.82
pineal_night195.08
retina284.175
small_intestine126.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P216325
  • 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
Amygdala7.56 ± 0.53
Basal Forebrain7.26 ± 0.23
Basal Part of Pons7.26 ± 0.39
Cerebellar Cortex7.31 ± 0.38
Cerebellar Nuclei8.13 ± 0.38
Claustrum7.48 ± 0.53
Epithalamus7.64 ± 0.31
Frontal Lobe7.51 ± 0.45
Globus Pallidus8.4 ± 0.31
Hypothalamus7.65 ± 1.01
Insula7.43 ± 0.26
Limbic Lobe7.65 ± 0.41
Mesencephalon7.68 ± 0.42
Myelencephalon7.56 ± 0.47
Occipital Lobe7.55 ± 0.38
Parietal Lobe7.46 ± 0.44
Pontine Tegmentum7.66 ± 0.41
Striatum7.9 ± 0.39
Subthalamus7.87 ± 0.11
Temporal Lobe7.4 ± 0.36
Thalamus7.68 ± 0.35
White Matter8.14 ± 0.48
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ASAH1_HUMAN_0 0 0 0 DAMWIGFLTR PRIDE
ASAH1_HUMAN_0 0 0 0 DRKESLDVYELDAK PRIDE
ASAH1_HUMAN_0 0 0 0 ESLDVYELDAK PRIDE
ASAH1_HUMAN_0 0 0 0 GAVPWYTINLDLPPYK PRIDE
ASAH1_HUMAN_0 0 0 0 GQFETYLR PRIDE
ASAH1_HUMAN_0 0 0 0 LPGLLGNFPGPFEEEMK PRIDE
ASAH1_HUMAN_0 0 0 0 LTVYTTLIDVTK PRIDE
ASAH1_HUMAN_0 0 0 0 NMINTFVPSGK PRIDE
ASAH1_HUMAN_0 0 0 0 STYPPSGPTYR PRIDE
ASAH1_HUMAN_0 0 0 0 TSQENISFETMYDVLSTKPVLNK PRIDE
ASAH1_HUMAN_0 0 0 0 VMQVVDEKLPGLLGNFPGPFEEEMK PRIDE
ASAH1_HUMAN_0 0 0 0 WHELMLDKAPMLK PRIDE
ASAH1_HUMAN_100 17 100 116 LPGLLGNFPGPFEEEMK PRIDE
ASAH1_HUMAN_200 26 200 225 ASSFAGYVGMLTGFKPGLFSLTLNER PRIDE
ASAH1_HUMAN_244 10 244 253 DAMWIGFLTR PRIDE
ASAH1_HUMAN_296 14 296 309 DRKESLDVYELDAK PRIDE
ASAH1_HUMAN_299 11 299 309 ESLDVYELDAK PRIDE
ASAH1_HUMAN_299 14 299 312 ESLDVYELDAKQGR PRIDE
ASAH1_HUMAN_300 11 300 310 ESLDVYELDAK PRIDE
ASAH1_HUMAN_313 10 313 322 WYVVQTNYDR PRIDE
ASAH1_HUMAN_32 12 32 43 KSTYPPSGPTYR PRIDE
ASAH1_HUMAN_33 11 33 43 STYPPSGPTYR PRIDE
ASAH1_HUMAN_343 23 343 365 TSQENISFETMYDVLSTKPVLNK PRIDE
ASAH1_HUMAN_366 12 366 377 LTVYTTLIDVTK PRIDE
ASAH1_HUMAN_378 8 378 385 GQFETYLR PRIDE
ASAH1_HUMAN_44 17 44 60 GAVPWYTINLDLPPYKR PRIDE
ASAH1_HUMAN_74 18 74 91 VIVNSLKNMINTFVPSGK PRIDE
ASAH1_HUMAN_81 11 81 91 NMINTFVPSGK PRIDE
ASAH1_HUMAN_82 11 82 92 NMINTFVPSGK PRIDE
ASAH1_HUMAN_92 25 92 116 VMQVVDEKLPGLLGNFPGPFEEEMK PRIDE
PAp00009714 10 143 152 CTSIVAEDKK 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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