AutismKB 2.0

Annotation Detail for MLC1


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Basic Information Top
Gene Symbol:MLC1 ( KIAA0027,LVM,MLC,VL )
Gene Full Name: megalencephalic leukoencephalopathy with subcortical cysts 1
Band: 22q13.33
Quick LinksEntrez ID:23209; OMIM: 605908; Uniprot ID:MLC1_HUMAN; ENSEMBL ID: ENSG00000100427; HGNC ID: 17082
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
12Phosphotyrosine(SRC)HMM predict
17Phosphothreonine(PKC)HMM predict
93O-linkedHMM predict
136N-linkedHMM predict
141N-linkedHMM predict
166Phosphoserine(CK2)HMM predict
166PhosphoserineHMM predict
177Phosphoserine(IKK)HMM predict
222Phosphoserine(IKK)HMM predict
269Phosphoserine(MAPK)HMM predict
357Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015166
  • Location:chr22 48839946-48866484
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48867925 48868278 353 1617
No data
No data
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 21048795
hsa-miR-122* hsa-mir-122 18 21048795
hsa-miR-148a hsa-mir-148a 7 21048795
hsa-miR-148a* hsa-mir-148a 7 21048795
hsa-miR-192 hsa-mir-192 11 21048795
hsa-miR-192* hsa-mir-192 11 21048795
No data
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