AutismKB 2.0

Annotation Detail for MKLN1


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Basic Information Top
Gene Symbol:MKLN1 ( FLJ11162,TWA2 )
Gene Full Name: muskelin 1, intracellular mediator containing kelch motifs
Band: 7q32.3
Quick LinksEntrez ID:4289; OMIM: 605623; Uniprot ID:MKLN1_HUMAN; ENSEMBL ID: ENSG00000128585; HGNC ID: 7109
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
29O-linkedHMM predict
48Phosphoserine(IKK)HMM predict
70N-linkedHMM predict
97N-linkedHMM predict
110Phosphotyrosine(Syk)HMM predict
116Phosphothreonine(PKC)HMM predict
188N-linkedHMM predict
247Phosphotyrosine(Syk)HMM predict
271MethylarginineHMM predict
317Phosphothreonine(CK2)HMM predict
412N-linkedHMM predict
571N-linkedHMM predict
664Phosphotyrosine(Jak)HMM predict
670Phosphoserine(CK2)HMM predict
670Phosphoserine(ATM)HMM predict
723Phosphothreonine(CDC2)HMM predict
723Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013255
  • Location:chr7 130663177-130831929
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 130661943 130662993 1050 710
H3K4me3 colorectalcancer 130662060 130662724 664 786
H3ac HepG2E 130662168 130662993 825 597
LIN9 SGSE7516 130662448 130663444 996 232
NRSF mAbJurkat 130661943 130662751 808 831
Rb SenescentGSE19898 130662519 130663343 824 247
p130 SenescentGSE19898 130662613 130662854 241 444
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 130832985 130833140 155 1133
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 130705446 130706281 835 0
CTCF G2GSE9613 130663050 130663331 281 0
CTCF G2GSE9613 130759529 130759773 244 0
ER E2-MCF7GSE14664 130769588 130769631 43 0
ER Fulvestrant-MCF7GSE14664 130716840 130716878 38 0
ER Fulvestrant-MCF7GSE14664 130797353 130797386 33 0
FoxA1 MCF7MACSdata 130699018 130699292 274 0
FoxA1 MCF7MACSdata 130736357 130736797 440 0
H3K4me3 colorectalcancer 130663555 130664649 1094 0
H3ac HepG2E 130663555 130665368 1813 0
Myc K562GSE19551 130672271 130672532 261 0
Myc hESGSE17917 130663255 130663448 193 0
Myc hESGSE17917 130695740 130696073 333 0
Oct1 H2O2-HelaGSE14283 130709293 130709321 28 0
Oct1 H2O2-HelaGSE14283 130717151 130717185 34 0
Oct1 H2O2-HelaGSE14283 130812626 130812656 30 0
Oct1 HelaGSE14283 130717151 130717182 31 0
Oct1 HelaGSE14283 130758442 130758494 52 0
Oct1 HelaGSE14283 130790621 130790668 47 0
Oct1 HelaGSE14283 130809988 130810014 26 0
Oct1 HelaGSE14283 130812626 130812655 29 0
Oct1 HelaGSE14283 130829023 130829081 58 0
PHF8 293TGSE20725 130662804 130664095 1291 0
PHF8 HeLaGSE20725 130662646 130664076 1430 0
PHF8 Hs68minusFBSGSE20725 130662705 130664018 1313 0
PHF8 Hs68plusFBSGSE20725 130662200 130664170 1970 0
TAF HelaGSE8489 130663617 130665368 1751 0
TAF k562GSE8489 130663586 130665637 2051 0
VDR GM10855-stimGSE22484 130817494 130819880 2386 0
VDR GM10861-stimGSE22484 130817603 130819782 2179 0
hScc1 BcellGSE12603 130663617 130664014 397 0
hScc1 BcellGSE12603 130759480 130759954 474 0
hScc1 BcellGSE12603 130791388 130791608 220 0
hScc1 CdLSGSE12603 130759415 130759995 580 0
hScc1 G2GSE9613 130759415 130759844 429 0
p130 shRbQuiescentGSE19898 130662880 130663798 918 0
p63 keratinocytesGSE17611 130766600 130767337 737 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
24656 mRNA MKLN1 chr7 130469892 130638645 2668 mRNA chr7 130635977 130640773Sense/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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