AutismKB 2.0

Annotation Detail for MLH1


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Basic Information Top
Gene Symbol:MLH1 ( COCA2,FCC2,HNPCC,HNPCC2,MGC5172,hMLH1 )
Gene Full Name: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Band: 3p22.2
Quick LinksEntrez ID:4292; OMIM: 120436; Uniprot ID:MLH1_HUMAN; ENSEMBL ID: ENSG00000076242; HGNC ID: 7127
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
477Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
64N-linkedHMM predict
81Phosphothreonine(PKA)HMM predict
116O-linkedHMM predict
119O-linkedHMM predict
168N-linkedHMM predict
209N-linkedHMM predict
215N-linkedHMM predict
245Phosphotyrosine(INSR)HMM predict
250N-linkedHMM predict
338N-linkedHMM predict
365Phosphoserine(CK1)HMM predict
365O-linkedHMM predict
365O-linkedHMM predict
365Phosphoserine(IKK)HMM predict
367O-linkedHMM predict
369Phosphoserine(CK1)HMM predict
371O-linkedHMM predict
372Phosphoserine(IKK)HMM predict
372Phosphoserine(CK2)HMM predict
374Phosphoserine(CDC2)HMM predict
379Phosphotyrosine(Syk)HMM predict
406Phosphoserine(ATM)HMM predict
444N-linkedHMM predict
455Phosphothreonine(PKA)HMM predict
459Phosphoserine(CK1)HMM predict
465Phosphothreonine(PKA)HMM predict
495Phosphothreonine(CDC2)HMM predict
495Phosphothreonine(CDK)HMM predict
495Phosphothreonine(MAPK)HMM predict
502N-linkedHMM predict
527N-linkedHMM predict
551N-linkedHMM predict
595Phosphoserine(CK2)HMM predict
698Phosphoserine(CK1)HMM predict
698Phosphoserine(ATM)HMM predict
707Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000249
  • Location:chr3 37009982-37067338
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
LIN9 G0GSE7516 37009586 37010254 668 63
LIN9 SGSE7516 37009513 37010287 774 83
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 37038132 37038495 363 0
E2F4 G0GSE7516 37009760 37010254 494 0
FOXA1 MCF7GSE15244 37048272 37048650 378 0
NRSF mAbJurkat 37010216 37010841 625 0
Oct1 H2O2-HelaGSE14283 37016919 37016946 27 0
RARA MCF7GSE15244 37009627 37011194 1567 0
RARG MCF7GSE15244 37009549 37010475 926 0
Rb GrowingGSE19898 37009758 37010274 516 0
Rb QuiescentGSE19898 37009598 37010424 826 0
Rb shRbQuiescentGSE19898 37009904 37010371 467 0
Rb shRbSenescenceGSE19898 37009868 37010414 546 0
TAF HelaGSE8489 37009933 37010917 984 0
p130 QuiescentGSE19898 37009853 37010450 597 0
p130 SenescentGSE19898 37009760 37010420 660 0
p130 shRbSenescentGSE19898 37009821 37010564 743 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-129-3p hsa-mir-129-2 11 19887623
hsa-miR-129-5p hsa-mir-129-1 7 19887623
hsa-miR-129-5p hsa-mir-129-2 11 19887623
hsa-miR-155 hsa-mir-155 21 20351277
hsa-miR-155* hsa-mir-155 21 20351277
hsa-miR-183 hsa-mir-183 7 19047896
hsa-miR-183* hsa-mir-183 7 19047896
hsa-miR-192 hsa-mir-192 11 19047896
hsa-miR-192* hsa-mir-192 11 19047896
No data
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
17922 mRNA MLH1 chr3 37009982 37067341 461 EST chr3 37065626 37066087 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


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