AutismKB 2.0

Annotation Detail for ARSA


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ARSA ( MLD )
Gene Full Name: arylsulfatase A
Band: 22q13.33
Quick LinksEntrez ID:410; OMIM: 607574; Uniprot ID:ARSA_HUMAN; ENSEMBL ID: ENSG00000100299; HGNC ID: 713
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 body1 / 7076114
blastocyst0 / 623190 
fetus27 / 56401247
neonate1 / 3109732
infant1 / 2362042
juvenile6 / 55556107
adult144 / 193912174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor13 / 94178138
cervical tumor1 / 3436629
chondrosarcoma7 / 8282384
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor2 / 2638457
glioma5 / 10688346
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia14 / 97250143
normal247 / 336030773
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland3 / 3319790
ascites0 / 400150 
bladder5 / 29757168
blood9 / 12347872
bone8 / 71655111
bone marrow4 / 4880181
brain70 / 110098963
cervix5 / 48171103
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus2 / 2020998
eye5 / 21105423
heart1 / 8962611
intestine11 / 23447246
kidney14 / 21177766
larynx0 / 241450 
liver22 / 207743105
lung18 / 33697453
lymph0 / 442700 
lymph node0 / 916100 
mammary gland16 / 153271104
mouth1 / 6705214
muscle5 / 10771546
nerve3 / 15768190
ovary3 / 10205129
pancreas8 / 21481237
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta36 / 280825128
prostate7 / 18934536
salivary gland2 / 2015599
skin6 / 21057428
spleen8 / 53952148
stomach9 / 9661993
testis22 / 33044266
thymus15 / 81131184
thyroid3 / 4747363
tonsil3 / 16999176
trachea1 / 5241319
umbilical cord1 / 1368073
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204443_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.5
Adipocyte4.35
AdrenalCortex4.55
Adrenalgland3.75
Amygdala4.6
Appendix5.1
AtrioventricularNode3.4
BDCA4+_DentriticCells5
Bonemarrow4.35
BronchialEpithelialCells4.4
CD105+_Endothelial4.35
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)4.75
CD33+_Myeloid5.65
CD34+5.65
CD4+_Tcells4.85
CD56+_NKCells5.35
CD71+_EarlyErythroid4.15
CD8+_Tcells4.3
CardiacMyocytes5.35
Caudatenucleus4
Cerebellum3.6
CerebellumPeduncles5.05
CiliaryGanglion3.15
CingulateCortex4.5
Colorectaladenocarcinoma4.4
DorsalRootGanglion3.35
FetalThyroid4.65
Fetalbrain4.45
Fetalliver3.8
Fetallung3.7
GlobusPallidus3.3
Heart5.55
Hypothalamus4.8
Kidney3.8
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.9
Leukemialymphoblastic(MOLT-4)3.65
Liver17.35
Lung4.9
Lymphnode4.75
Lymphoma_burkitts(Daudi)5.65
Lymphoma_burkitts(Raji)6.05
MedullaOblongata4.05
OccipitalLobe3.95
OlfactoryBulb3.45
Ovary2.9
Pancreas3.65
PancreaticIslet5.2
ParietalLobe4.55
Pituitary5.2
Placenta6.05
Pons4.2
PrefrontalCortex5.45
Prostate5.6
Salivarygland3.5
SkeletalMuscle4.75
Skin3.6
SmoothMuscle5.1
Spinalcord4.7
SubthalamicNucleus4.1
SuperiorCervicalGanglion4.9
TemporalLobe4
Testis5.7
TestisGermCell4.05
TestisIntersitial5.6
TestisLeydigCell5.75
TestisSeminiferousTubule6
Thalamus4.45
Thymus3.55
Thyroid5.55
Tongue4.35
Tonsil4.35
Trachea3.75
TrigeminalGanglion4.4
Uterus3.6
UterusCorpus3.9
WholeBlood4.95
Wholebrain3.75
colon4.05
pineal_day5.34
pineal_night5.2
retina4.85
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P255436
  • 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
Amygdala5.12 ± 0.42
Basal Forebrain5.28 ± 0.42
Basal Part of Pons5.5 ± 0.4
Cerebellar Cortex5.4 ± 0.4
Cerebellar Nuclei5.38 ± 0.44
Claustrum4.89 ± 0.74
Epithalamus5.63 ± 0.67
Frontal Lobe5.42 ± 0.42
Globus Pallidus5.61 ± 0.26
Hypothalamus5.32 ± 0.58
Insula5.24 ± 0.37
Limbic Lobe5.17 ± 0.52
Mesencephalon5.24 ± 0.41
Myelencephalon5.38 ± 0.41
Occipital Lobe5.02 ± 0.33
Parietal Lobe5.16 ± 0.41
Pontine Tegmentum5.11 ± 0.55
Striatum5.19 ± 0.48
Subthalamus4.91 ± 0.16
Temporal Lobe5.32 ± 0.34
Thalamus5.5 ± 0.33
White Matter6.39 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ArsaCBCerebellum19.29
24.11
ArsaCTXCerebral cortex28.59
21.94
ArsaHIPHippocampal region16.36
23.25
ArsaHPFHippocampal formation25.21
29.06
ArsaHYHypothalamus11.78
9.2
ArsaLSXLateral septal complex1.26
0.75
ArsaMBMidbrain12.21
11
ArsaMYMedulla28.73
26.27
ArsaOLFOlfactory bulb31.88
27.11
ArsaPPons20.09
17.91
ArsaPALPallidum12.22
11.63
ArsaRHPRetrohippocampal region41.52
39.4
ArsasAMYStriatum-like amygdalar nuclei21.52
17.86
ArsaSTRStriatum9.24
7.82
ArsaSTRdStriatum dorsal region7.42
6.85
ArsaSTRvStriatum ventral region9.04
5.99
ArsaTHThalamus49.11
37.18
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ARSA_HUMAN_463 16 463 478 AQLDAAVTFGPSQVAR PRIDE
ARSA_HUMAN_85 13 85 97 MGMYPGVLVPSSR PRIDE
ARSA_HUMAN_97 17 97 113 GGLPLEEVTVAEVLAAR PRIDE
PAp00024006 31 28 58 ADDLGYGDLGCYGHPSSTTPNLDQLAAGGLR 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