AutismKB 2.0

Annotation Detail for ARSA


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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
Post Translation Modification Top
Location(AA) Modification
693-oxoalanine (Cys).
158N-linked (GlcNAc...).
184N-linked (GlcNAc...).
350N-linked (GlcNAc...).
Location(AA) Modifications Resource
693-oxoalanine (Cys).Swiss-Prot 53.0
158N-linked (GlcNAc...).Swiss-Prot 53.0
184N-linked (GlcNAc...).Swiss-Prot 53.0
350N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
33Phosphotyrosine(INSR)HMM predict
43O-linkedHMM predict
46Phosphothreonine(CDK)HMM predict
70Phosphothreonine(MAPK)HMM predict
158N-linkedHMM predict
306Phosphotyrosine(INSR)HMM predict
350N-linkedHMM predict
368Phosphoserine(CDC2)HMM predict
419Phosphoserine(CK1)HMM predict
449Phosphothreonine(MAPK)HMM predict
489S-palmitoylHMM predict
492GlycineHMM predict
493CysteineHMM predict
499CysteineHMM predict
500CysteineHMM predict
502S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000487
  • Location:chr22 49410321-49413441
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 49413702 49413913 211 366
H3ac HepG2E 49423469 49423691 222 10139
Nanog hESGSE18292 49426987 49427515 528 13810
USF1 HepG2E 49423469 49423691 222 10139
USF1 HepG2E 49426517 49428000 1483 13817
USF2 HepG2E 49423469 49423691 222 10139
USF2 HepG2E 49426517 49428000 1483 13817
hScc1 BcellGSE12603 49413118 49413913 795 74
hScc1 CdLSGSE12603 49413047 49413842 795 3
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 49406195 49407114 919 3667
H3ac HepG2E 49408441 49408703 262 1750
hScc1 BcellGSE12603 49405818 49406195 377 4315
hScc1 CdLSGSE12603 49405818 49406568 750 4129
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49411315 49411721 406 0
CTCF G2GSE9613 49413011 49413733 722 0
Validated miRNA targets Top
Cis-Nats regulation 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


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