AutismKB 2.0

Annotation Detail for SGSH


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Basic Information Top
Gene Symbol:SGSH ( HSS,MPS3A,SFMD )
Gene Full Name: N-sulfoglucosamine sulfohydrolase
Band: 17q25.3
Quick LinksEntrez ID:6448; OMIM: 605270; Uniprot ID:SPHM_HUMAN; ENSEMBL ID: ENSG00000181523; HGNC ID: 10818
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
41N-linked (GlcNAc...).
703-oxoalanine (Cys) (By similarity).
142N-linked (GlcNAc...) (Potential).
151N-linked (GlcNAc...) (Potential).
264N-linked (GlcNAc...).
413N-linked (GlcNAc...).
Location(AA) Modifications Resource
41N-linked (GlcNAc...).Swiss-Prot 53.0
703-oxoalanine (Cys) (By similarity).Swiss-Prot 53.0
142N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
151N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
264N-linked (GlcNAc...).Swiss-Prot 53.0
413N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
18S-palmitoylHMM predict
40Phosphotyrosine(INSR)HMM predict
41N-linkedHMM predict
42N-linkedHMM predict
66O-linkedHMM predict
68Phosphoserine(IKK)HMM predict
68Phosphoserine(CK2)HMM predict
69O-linkedHMM predict
71Phosphoserine(CDC2)HMM predict
71O-linkedHMM predict
76Phosphoserine(PKG)HMM predict
142N-linkedHMM predict
144Phosphoserine(CK1)HMM predict
151N-linkedHMM predict
215Phosphotyrosine(SRC)HMM predict
229Phosphothreonine(MAPK)HMM predict
264N-linkedHMM predict
298Phosphoserine(CDC2)HMM predict
403Phosphotyrosine(Syk)HMM predict
405Phosphoserine(CDC2)HMM predict
413N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000199
  • Location:chr17 75797684-75808718
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 75807596 75808472 876 0
CTCF G2GSE9613 75805298 75805734 436 0
H3ac HepG2E 75807775 75808337 562 0
P300 T0-glioblastomaGSE21026 75807614 75808369 755 0
USF1 HepG2E 75805734 75806500 766 0
USF1 HepG2E 75807775 75808239 464 0
hScc1 BcellGSE12603 75797884 75798438 554 0
hScc1 BcellGSE12603 75803371 75803626 255 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
11715 mRNA CARD14 chr17 75758670 75797724 40 mRNA SGSH chr17 75797684 75808719Sense/Antisense (SA) pairs

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