AutismKB 2.0

Annotation Detail for MKS1


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Basic Information Top
Gene Symbol:MKS1 ( BBS13,FLJ20345,MES,MKS,POC12 )
Gene Full Name: Meckel syndrome, type 1
Band: 17q22
Quick LinksEntrez ID:54903; OMIM: 609883; Uniprot ID:MKS1_HUMAN; ENSEMBL ID: ENSG00000011143; HGNC ID: 7121
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
62O-linkedHMM predict
95N-linkedHMM predict
134Phosphotyrosine(INSR)HMM predict
134Phosphotyrosine(Jak)HMM predict
145Phosphothreonine(PKA)HMM predict
199Phosphothreonine(CDK)HMM predict
267N-linkedHMM predict
327Phosphotyrosine(INSR)HMM predict
388Phosphoserine(CK1)HMM predict
423Phosphothreonine(MAPK)HMM predict
426O-linkedHMM predict
467Phosphoserine(PKC)HMM predict
467Phosphoserine(CDK)HMM predict
520Phosphoserine(ATM)HMM predict
545Phosphoserine(PKG)HMM predict
552Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017777
  • Location:chr17 53637797-53651664
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 53651455 53651926 471 26
CTCF CD4SISSRdata 53651455 53651926 471 26
CTCF G2GSE9613 53651654 53651872 218 99
Fos K562GSE19551 53656689 53657177 488 5269
H3K4me2 HCT116GSE10453 53652061 53652490 429 611
P300 T30-glioblastomaGSE21026 53651084 53652403 1319 79
RARA MCF7GSE15244 53651837 53652454 617 481
RARG MCF7GSE15244 53651837 53652454 617 481
TAF k562GSE8489 53651802 53652490 688 482
hScc1 BcellGSE12603 53651533 53651990 457 97
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 53651069 53652153 1084 0
H3K4me3 colorectalcancer 53650846 53651329 483 0
H3ac HepG2E 53650882 53651468 586 0
PHF8 293TGSE20725 53651023 53652296 1273 0
PHF8 HeLaGSE20725 53651011 53652312 1301 0
Rb GrowingGSE19898 53651466 53651594 128 0
Rb QuiescentGSE19898 53651458 53651765 307 0
TAF k562GSE8489 53650846 53651410 564 0
p130 QuiescentGSE19898 53650950 53651639 689 0
p130 shRbQuiescentGSE19898 53651007 53652003 996 0
p130 shRbSenescentGSE19898 53651131 53651295 164 0
p130 shRbSenescentGSE19898 53651474 53651827 353 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