AutismKB 2.0

Annotation Detail for ALAS1


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Basic Information Top
Gene Symbol:ALAS1 ( ALAS,ALAS3,ALASH,MIG4 )
Gene Full Name: aminolevulinate, delta-, synthase 1
Band: 3p21.2
Quick LinksEntrez ID:211; OMIM: 125290; Uniprot ID:HEM1_HUMAN; ENSEMBL ID: ENSG00000023330; HGNC ID: 396
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
blastocyst2 / 6231932
fetus58 / 564012102
neonate2 / 3109764
infant2 / 2362084
juvenile5 / 5555689
adult162 / 193912183
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor5 / 34366145
chondrosarcoma6 / 8282372
colorectal tumor7 / 11424661
esophageal tumor2 / 17290115
gastrointestinal tumor14 / 119369117
germ cell tumor23 / 26384587
glioma6 / 10688356
head and neck tumor2 / 13630214
kidney tumor7 / 68959101
leukemia24 / 95842250
liver tumor8 / 9635983
lung tumor4 / 10312738
lymphoma12 / 71755167
non-neoplasia10 / 97250102
normal326 / 336030797
ovarian tumor7 / 7668291
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer4 / 10268038
retinoblastoma4 / 4635686
skin tumor5 / 12494940
soft tissue/muscle tissue tumor26 / 125191207
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland25 / 33197753
ascites1 / 4001524
bladder2 / 2975767
blood35 / 123478283
bone5 / 7165569
bone marrow4 / 4880181
brain126 / 1100989114
cervix7 / 48171145
connective tissue19 / 149255127
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus3 / 20209148
eye11 / 21105452
heart9 / 89626100
intestine21 / 23447289
kidney14 / 21177766
larynx0 / 241450 
liver17 / 20774381
lung28 / 33697483
lymph7 / 44270158
lymph node11 / 91610120
mammary gland6 / 15327139
mouth3 / 6705244
muscle15 / 107715139
nerve0 / 157680 
ovary11 / 102051107
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta22 / 28082578
prostate9 / 18934547
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach12 / 96619124
testis14 / 33044242
thymus5 / 8113161
thyroid1 / 4747321
tonsil1 / 1699958
trachea6 / 52413114
umbilical cord0 / 136800 
uterus18 / 23287877
vascular12 / 51780231
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205633_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts246.8
Adipocyte68.7
AdrenalCortex3567.35
Adrenalgland3410.1
Amygdala41.85
Appendix12.6
AtrioventricularNode7
BDCA4+_DentriticCells32
Bonemarrow79.25
BronchialEpithelialCells48.05
CD105+_Endothelial9.7
CD14+_Monocytes65.15
CD19+_BCells(neg._sel.)14.65
CD33+_Myeloid39.75
CD34+36.15
CD4+_Tcells21.55
CD56+_NKCells32.8
CD71+_EarlyErythroid8.25
CD8+_Tcells21.65
CardiacMyocytes19.75
Caudatenucleus28.05
Cerebellum77.95
CerebellumPeduncles78.9
CiliaryGanglion12.3
CingulateCortex27.95
Colorectaladenocarcinoma123.85
DorsalRootGanglion7.05
FetalThyroid18.3
Fetalbrain27.45
Fetalliver35.65
Fetallung62.75
GlobusPallidus12.8
Heart429.2
Hypothalamus45.5
Kidney25.7
Leukemia_chronicMyelogenousK-56228.5
Leukemia_promyelocytic-HL-60101.45
Leukemialymphoblastic(MOLT-4)21.7
Liver862.7
Lung179.6
Lymphnode24.35
Lymphoma_burkitts(Daudi)35.4
Lymphoma_burkitts(Raji)148.05
MedullaOblongata22.65
OccipitalLobe28.9
OlfactoryBulb9.95
Ovary7.55
Pancreas16.55
PancreaticIslet38.2
ParietalLobe28.45
Pituitary21.45
Placenta102.2
Pons16.4
PrefrontalCortex34.5
Prostate73.7
Salivarygland13.95
SkeletalMuscle22.05
Skin10.05
SmoothMuscle40.8
Spinalcord28.5
SubthalamicNucleus24.15
SuperiorCervicalGanglion11.3
TemporalLobe23.3
Testis43.6
TestisGermCell21.7
TestisIntersitial9.4
TestisLeydigCell20.85
TestisSeminiferousTubule14.2
Thalamus27.4
Thymus32.4
Thyroid55.85
Tongue21.35
Tonsil25.85
Trachea22.4
TrigeminalGanglion8
Uterus19.85
UterusCorpus16.15
WholeBlood78.95
Wholebrain113.7
colon68.4
pineal_day83.02
pineal_night97.98
retina38.975
small_intestine79.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P57877
  • 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
Amygdala3.39 ± 0.63
Basal Forebrain2.73 ± 0.51
Basal Part of Pons3.17 ± 0.43
Cerebellar Cortex3.66 ± 0.32
Cerebellar Nuclei3.48 ± 0.4
Claustrum3.32 ± 0.74
Epithalamus2.73 ± 0.85
Frontal Lobe3.25 ± 0.48
Globus Pallidus2.79 ± 0.4
Hypothalamus3.16 ± 0.51
Insula3.06 ± 0.26
Limbic Lobe3.2 ± 0.54
Mesencephalon3.1 ± 0.62
Myelencephalon3.13 ± 0.51
Occipital Lobe3.02 ± 0.46
Parietal Lobe3.15 ± 0.58
Pontine Tegmentum3.24 ± 0.62
Striatum2.73 ± 0.58
Subthalamus3.02 ± 0.25
Temporal Lobe3.16 ± 0.54
Thalamus3.01 ± 0.61
White Matter3.19 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Alas1CBCerebellum99.81
100
Alas1CTXCerebral cortex100
100
Alas1HIPHippocampal region100
100
Alas1HPFHippocampal formation100
100
Alas1HYHypothalamus100
100
Alas1LSXLateral septal complex100
100
Alas1MBMidbrain100
100
Alas1MYMedulla64.17
100
Alas1OLFOlfactory bulb100
100
Alas1PPons98.24
100
Alas1PALPallidum100
100
Alas1RHPRetrohippocampal region100
100
Alas1sAMYStriatum-like amygdalar nuclei100
100
Alas1STRStriatum100
100
Alas1STRdStriatum dorsal region100
100
Alas1STRvStriatum ventral region100
100
Alas1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HEM1_HUMAN_358 8 358 365 HNDVSHLR PRIDE

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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