AutismKB 2.0

Annotation Detail for SORD


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SORD ( SORD1 )
Gene Full Name: sorbitol dehydrogenase
Band: 15q21.1
Quick LinksEntrez ID:6652; OMIM: 182500; Uniprot ID:DHSO_HUMAN; ENSEMBL ID: ENSG00000140263; HGNC ID: 11184
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
Location(AA) Modifications Resource
2N-acetylalanine.Swiss-Prot 53.0
Location(AA) Modification Resource
75Phosphothreonine(PKC)HMM predict
146N-linkedHMM predict
323Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003104
  • Location:chr15 43102643-43154329
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 43101778 43103407 1629 51
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 43161481 43162344 863 7583
hScc1 BcellGSE12603 43160160 43160490 330 5996
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43116637 43116836 199 0
CTCF CD4SISSRdata 43116637 43116836 199 0
CTCF JurkatGSE12889 43116648 43116842 194 0
CTCF G2GSE9613 43102501 43103000 499 0
CTCF G2GSE9613 43116439 43117063 624 0
CTCF G2GSE9613 43149697 43149850 153 0
ER E2-MCF7GSE14664 43116782 43116815 33 0
FOXA1 MCF7GSE15244 43150865 43151958 1093 0
FOXA1 eGFPGSE10845 43150902 43151958 1056 0
Gata1 K562GSE18868 43128026 43129051 1025 0
Gata2 K562GSE18868 43128114 43129179 1065 0
H3ac HepG2E 43102859 43104820 1961 0
H3ac HepG2E 43105141 43105453 312 0
Myc K562GSE19551 43116594 43116956 362 0
Myc K562GSE19551 43128121 43129043 922 0
Oct1 HelaGSE14283 43130066 43130097 31 0
P300 T30-glioblastomaGSE21026 43116440 43117255 815 0
P300 T30-glioblastomaGSE21026 43140506 43141477 971 0
PHF8 293TGSE20725 43102252 43103177 925 0
TAFII hESGSE17917 43102473 43103031 558 0
hScc1 BcellGSE12603 43116262 43117030 768 0
hScc1 CdLSGSE12603 43116187 43117063 876 0
p130 shRbSenescentGSE19898 43102491 43103061 570 0
p63 keratinocytesGSE17611 43138063 43138852 789 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