AutismKB 2.0

Annotation Detail for L2HGDH


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Basic Information Top
Gene Symbol:L2HGDH ( C14orf160,DURANIN,FLJ12618 )
Gene Full Name: L-2-hydroxyglutarate dehydrogenase
Band: 14q21.3
Quick LinksEntrez ID:79944; OMIM: 609584; Uniprot ID:L2HDH_HUMAN; ENSEMBL ID: ENSG00000087299; HGNC ID: 20499
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
155N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
16MethylarginineHMM predict
45Phosphoserine(PKB)HMM predict
45PhosphoserineHMM predict
47Phosphoserine(CK2)HMM predict
102Phosphotyrosine(INSR)HMM predict
228PhosphoserineHMM predict
267Phosphoserine(CK1)HMM predict
273Phosphothreonine(CDC2)HMM predict
301Phosphotyrosine(INSR)HMM predict
338Phosphotyrosine(Syk)HMM predict
440Phosphoserine(CDK)HMM predict
440Phosphoserine(CDC2)HMM predict
440O-linkedHMM predict
444O-linkedHMM predict
444O-linkedHMM predict
446Phosphoserine(IKK)HMM predict
461PhenylalanineHMM predict
463PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024884
  • Location:chr14 49782932-49848696
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 49779641 49779693 52 3266
Oct1 HelaGSE14283 49779894 49779924 30 3024
TFAP2C MCF7GSE21234 49778957 49779707 750 3601
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 49848274 49848523 249 0
CTCF CD4SISSRdata 49848274 49848523 249 0
CTCF G2GSE9613 49848400 49848714 314 0
H3K4me2 HCT116GSE10453 49847706 49848094 388 0
H3K4me3 colorectalcancer 49847706 49848323 617 0
H3ac HepG2E 49847706 49848459 753 0
Oct1 H2O2-HelaGSE14283 49784156 49784184 28 0
Oct1 HelaGSE14283 49842841 49842877 36 0
RARA MCF7GSE15244 49822354 49822918 564 0
RARA MCF7GSE15244 49847706 49848289 583 0
RARG MCF7GSE15244 49847706 49848289 583 0
Rb GrowingGSE19898 49797131 49797285 154 0
TAF HelaGSE8489 49847706 49848323 617 0
TAF k562GSE8489 49847706 49848094 388 0
hScc1 BcellGSE12603 49848155 49848714 559 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