AutismKB 2.0

Annotation Detail for MSH6


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Basic Information Top
Gene Symbol:MSH6 ( GTBP,HNPCC5,HSAP )
Gene Full Name: mutS homolog 6 (E. coli)
Band: 2p16.3
Quick LinksEntrez ID:2956; OMIM: 600678; Uniprot ID:MSH6_HUMAN; ENSEMBL ID: ENSG00000116062; HGNC ID: 7329
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
14Phosphoserine.
41Phosphoserine.
43Phosphoserine.
70N6-acetyllysine.
79Phosphoserine.
91Phosphoserine.
137Phosphoserine.
139Phosphothreonine.
200Phosphoserine.
219Phosphoserine.
227Phosphoserine.
252Phosphoserine.
254Phosphoserine.
256Phosphoserine.
261Phosphoserine.
309Phosphoserine.
348Phosphoserine.
504N6-acetyllysine.
830Phosphoserine.
924Phosphothreonine.
Location(AA) Modifications Resource
14Phosphoserine.Swiss-Prot 53.0
41Phosphoserine.Swiss-Prot 53.0
43Phosphoserine.Swiss-Prot 53.0
137Phosphoserine.Swiss-Prot 53.0
137PhosphoserinePhospho.ELM 6.0
219Phosphoserine.Swiss-Prot 53.0
227PhosphoserinePhospho.ELM 6.0
227Phosphoserine.Swiss-Prot 53.0
252Phosphoserine.Swiss-Prot 53.0
252PhosphoserinePhospho.ELM 6.0
254Phosphoserine.Swiss-Prot 53.0
254PhosphoserinePhospho.ELM 6.0
256PhosphoserinePhospho.ELM 6.0
256Phosphoserine.Swiss-Prot 53.0
261Phosphoserine.Swiss-Prot 53.0
261PhosphoserinePhospho.ELM 6.0
830PhosphoserinePhospho.ELM 6.0
830Phosphoserine.Swiss-Prot 53.0
924Phosphothreonine.Swiss-Prot 53.0
924PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
14Phosphoserine(CDC2)HMM predict
28Phosphoserine(PKG)HMM predict
41O-linkedHMM predict
41Phosphoserine(CDC2)HMM predict
43Phosphoserine(ATM)HMM predict
43O-linkedHMM predict
65Phosphoserine(CDC2)HMM predict
65Phosphoserine(PKB)HMM predict
65PhosphoserineHMM predict
79Phosphoserine(PKG)HMM predict
79Phosphoserine(PKA)HMM predict
227Phosphoserine(CK1)HMM predict
227PhosphoserineHMM predict
241Phosphoserine(PKA)HMM predict
252Phosphoserine(CAMK2)HMM predict
252Phosphoserine(PKB)HMM predict
256Phosphoserine(CK1)HMM predict
274Phosphoserine(CK1)HMM predict
274Phosphoserine(CK2)HMM predict
275Phosphoserine(ATM)HMM predict
279Phosphoserine(CK1)HMM predict
292Phosphoserine(CDC2)HMM predict
292Phosphoserine(CDK)HMM predict
315Phosphoserine(PKC)HMM predict
315Phosphoserine(PKG)HMM predict
315Phosphoserine(PKA)HMM predict
319Phosphothreonine(PKA)HMM predict
319Phosphothreonine(MAPK)HMM predict
319Phosphothreonine(CDK)HMM predict
327O-linkedHMM predict
328O-linkedHMM predict
348Phosphoserine(ATM)HMM predict
397Phosphotyrosine(INSR)HMM predict
524Phosphotyrosine(SRC)HMM predict
534N-linkedHMM predict
549Phosphoserine(CK1)HMM predict
550Phosphoserine(CK1)HMM predict
614Phosphoserine(IKK)HMM predict
625Phosphoserine(ATM)HMM predict
633Phosphothreonine(PKC)HMM predict
668Phosphoserine(IKK)HMM predict
672Phosphothreonine(MAPK)HMM predict
709Phosphotyrosine(INSR)HMM predict
709SulfotyrosineHMM predict
718O-linkedHMM predict
718Phosphoserine(IKK)HMM predict
720O-linkedHMM predict
748N-linkedHMM predict
751N-linkedHMM predict
823Phosphoserine(CK1)HMM predict
830Phosphoserine(CDK)HMM predict
830Phosphoserine(CDC2)HMM predict
834Phosphoserine(ATM)HMM predict
850Phosphotyrosine(SRC)HMM predict
937Phosphotyrosine(EGFR)HMM predict
937SulfotyrosineHMM predict
950Phosphoserine(CK1)HMM predict
984N-linkedHMM predict
989N-linkedHMM predict
1065N-linkedHMM predict
1142Phosphothreonine(PKC)HMM predict
1195Phosphoserine(CK2)HMM predict
1225O-linkedHMM predict
1279Phosphoserine(ATM)HMM predict
1344Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000179
  • Location:chr2 47863789-47887594
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47848624 47848830 206 15063
CTCF CD4SISSRdata 47848624 47848830 206 15063
CTCF G2GSE9613 47848363 47849110 747 15053
CTCF G2GSE9613 47852765 47853066 301 10874
CTCF G2GSE9613 47863453 47864073 620 27
ER MCF7GSE19013 47848587 47849021 434 14986
PHF8 Hs68minusFBSGSE20725 47862960 47864432 1472 94
PHF8 Hs68plusFBSGSE20725 47862831 47864585 1754 82
Rb QuiescentGSE19898 47863249 47863607 358 362
TFAP2C MCF7GSE21234 47856547 47857564 1017 6734
hScc1 BcellGSE12603 47848363 47849083 720 15067
hScc1 BcellGSE12603 47863274 47863648 374 329
hScc1 CdLSGSE12603 47848363 47849110 747 15053
hScc1 G2GSE9613 47848363 47849110 747 15053
p130 QuiescentGSE19898 47863116 47863499 383 482
p130 SenescentGSE19898 47863313 47863572 259 347
p130 shRbSenescentGSE19898 47863291 47864166 875 61
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 47864800 47865079 279 0
Oct1 H2O2-HelaGSE14283 47866997 47867026 29 0
Oct1 HelaGSE14283 47866998 47867026 28 0
PHF8 HeLaGSE20725 47862975 47864675 1700 0
Rb GrowingGSE19898 47863702 47863959 257 0
Rb SenescentGSE19898 47863710 47864289 579 0
TFAP2C MCF7GSE21234 47863743 47864097 354 0
p130 QuiescentGSE19898 47863728 47864069 341 0
p130 SenescentGSE19898 47863701 47864169 468 0
p130 SenescentGSE19898 47864515 47864732 217 0
p130 shRbQuiescentGSE19898 47863676 47864025 349 0
p130 shRbSenescentGSE19898 47864215 47865066 851 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
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
14261 mRNA MSH6 chr2 47921936 47945743 32 mRNA FBXO11 chr2 47945711 48044465Sense/Antisense (SA) 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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