AutismKB 2.0

Annotation Detail for MCOLN3


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Basic Information Top
Gene Symbol:MCOLN3 ( FLJ11006,FLJ36629,MGC71509,TRP-ML3,TRPML3 )
Gene Full Name: mucolipin 3
Band: 1p22.3
Quick LinksEntrez ID:55283; OMIM: 607400; Uniprot ID:MCLN3_HUMAN; ENSEMBL ID: ENSG00000055732; HGNC ID: 13358
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
9Phosphoserine(CK2)HMM predict
13Phosphoserine(CK1)HMM predict
13PhosphoserineHMM predict
27Phosphoserine(CDC2)HMM predict
123Phosphotyrosine(EGFR)HMM predict
146Phosphotyrosine(INSR)HMM predict
172N-linkedHMM predict
205N-linkedHMM predict
330Phosphoserine(PKA)HMM predict
429S-palmitoylHMM predict
552LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018298
  • Location:chr1 85256353-85286756
  • strand:-
No data
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Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 85266087 85266240 153 0
CTCF CD4SISSRdata 85266087 85266240 153 0
CTCF G2GSE9613 85286511 85286903 392 0
H3K27me3 colorectalcancer 85284324 85286129 1805 0
H3K4me3 colorectalcancer 85285447 85285914 467 0
STAT1 HeLaGSE12782 85265203 85266349 1146 0
STAT1 HeLaGSE12783 85265216 85266315 1099 0
STAT1 IFNSISSRdata 85265458 85265953 495 0
hScc1 BcellGSE12603 85286357 85286965 608 0
hScc1 CdLSGSE12603 85265907 85266378 471 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
1038 mRNA WDR63 chr1 85176850 85310841 30404 mRNA MCOLN3 chr1 85195786 85226190 Non-exonic Bidirectional (NOB) 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