AutismKB 2.0

Annotation Detail for MKL1


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Basic Information Top
Gene Symbol:MKL1 ( BSAC,MAL,MRTF-A )
Gene Full Name: megakaryoblastic leukemia (translocation) 1
Band: 22q13.1-q13.2
Quick LinksEntrez ID:57591; OMIM: 606078; Uniprot ID:MKL1_HUMAN; ENSEMBL ID: ENSG00000196588; HGNC ID: 14334
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
6Phosphoserine.
305Phosphothreonine.
450Phosphothreonine.
454Phosphoserine.
Location(AA) Modifications Resource
6Phosphoserine.Swiss-Prot 53.0
6PhosphoserinePhospho.ELM 6.0
454PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
16Phosphoserine(CK1)HMM predict
22Phosphothreonine(PKC)HMM predict
113Phosphoserine(CK2)HMM predict
114Phosphoserine(IKK)HMM predict
114Phosphoserine(CK2)HMM predict
124Phosphoserine(ATM)HMM predict
124Phosphoserine(IKK)HMM predict
133Phosphoserine(ATM)HMM predict
136Phosphoserine(IKK)HMM predict
139Phosphoserine(CDC2)HMM predict
154O-linkedHMM predict
156Phosphoserine(CDC2)HMM predict
156Phosphoserine(IKK)HMM predict
158O-linkedHMM predict
194N-linkedHMM predict
197O-linkedHMM predict
200O-linkedHMM predict
211Phosphoserine(ATM)HMM predict
215Phosphoserine(IKK)HMM predict
217Phosphoserine(CK2)HMM predict
220Phosphoserine(ATM)HMM predict
223Phosphoserine(PKC)HMM predict
241Phosphotyrosine(INSR)HMM predict
295O-linkedHMM predict
302O-linkedHMM predict
305Phosphothreonine(CDK)HMM predict
310O-linkedHMM predict
312Phosphoserine(CK1)HMM predict
314O-linkedHMM predict
315N-linkedHMM predict
319O-linkedHMM predict
320Phosphoserine(ATM)HMM predict
320O-linkedHMM predict
320O-linkedHMM predict
332N-linkedHMM predict
333Phosphoserine(IKK)HMM predict
335Phosphoserine(CK1)HMM predict
367Phosphoserine(IKK)HMM predict
416Phosphoserine(PKG)HMM predict
417Phosphothreonine(PKC)HMM predict
449O-linkedHMM predict
450Phosphothreonine(MAPK)HMM predict
450O-linkedHMM predict
450PhosphothreonineHMM predict
454Phosphoserine(CDK)HMM predict
454O-linkedHMM predict
454Phosphoserine(CDC2)HMM predict
456PhosphothreonineHMM predict
456Phosphothreonine(MAPK)HMM predict
456Phosphothreonine(CDK)HMM predict
458O-linkedHMM predict
461Phosphoserine(IKK)HMM predict
461Phosphoserine(CK1)HMM predict
465Phosphothreonine(CK2)HMM predict
469N-linkedHMM predict
471Phosphothreonine(CDC2)HMM predict
471Phosphothreonine(MAPK)HMM predict
507Phosphoserine(PKB)HMM predict
507Phosphoserine(IKK)HMM predict
511Phosphoserine(CDC2)HMM predict
573Phosphothreonine(CDK)HMM predict
580Phosphoserine(IKK)HMM predict
682O-linkedHMM predict
685Phosphoserine(CDC2)HMM predict
685O-linkedHMM predict
691Phosphoserine(IKK)HMM predict
691Phosphoserine(ATM)HMM predict
691O-linkedHMM predict
695Phosphoserine(CDK)HMM predict
695Phosphoserine(CDC2)HMM predict
695PhosphoserineHMM predict
695Phosphoserine(IKK)HMM predict
695O-linkedHMM predict
728Phosphotyrosine(Abl)HMM predict
728Phosphotyrosine(INSR)HMM predict
728Phosphotyrosine(EGFR)HMM predict
728Phosphotyrosine(Syk)HMM predict
733Phosphoserine(ATM)HMM predict
741N-linkedHMM predict
743Phosphoserine(CK1)HMM predict
745Phosphoserine(ATM)HMM predict
778Phosphoserine(CDC2)HMM predict
778O-linkedHMM predict
785Phosphoserine(CDC2)HMM predict
794O-linkedHMM predict
807O-linkedHMM predict
850O-linkedHMM predict
859O-linkedHMM predict
901O-linkedHMM predict
907O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020831
  • Location:chr22 39136237-39362635
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 39377288 39378771 1483 15394
CTCF CD4GSE12889 39372082 39372529 447 9670
CTCF CD4SISSRdata 39372082 39372529 447 9670
CTCF G2GSE9613 39372182 39372463 281 9687
FOXA1 MCF7GSE15244 39370626 39371019 393 8187
Fos K562GSE19551 39362517 39363558 1041 402
Fos K562GSE19551 39377500 39378308 808 15269
H3ac HepG2E 39363037 39364128 1091 947
H3ac HepG2E 39379981 39380416 435 17563
H3ac HepG2E 39380866 39381077 211 18336
P300 T30-glioblastomaGSE21026 39376666 39379220 2554 15308
PHF8 293TGSE20725 39362065 39363735 1670 265
PHF8 293TGSE20725 39377447 39378580 1133 15378
PHF8 HeLaGSE20725 39361836 39363461 1625 13
PHF8 HeLaGSE20725 39377269 39378879 1610 15439
PHF8 Hs68plusFBSGSE20725 39377431 39378578 1147 15369
Rb QuiescentGSE19898 39362562 39363129 567 210
Rb QuiescentGSE19898 39377896 39378264 368 15445
Rb SenescentGSE19898 39362551 39363249 698 265
Rb SenescentGSE19898 39378029 39378366 337 15562
USF1 HepG2E 39377787 39378873 1086 15695
USF1 HepG2E 39379981 39380416 435 17563
USF2 HepG2E 39377787 39378209 422 15363
VDR GM10855-stimGSE22484 39362167 39364179 2012 538
hScc1 BcellGSE12603 39372057 39372463 406 9625
hScc1 BcellGSE12603 39377787 39377988 201 15252
hScc1 CdLSGSE12603 39372024 39372463 439 9608
hScc1 G2GSE9613 39372024 39372463 439 9608
p130 QuiescentGSE19898 39362576 39362858 282 82
p130 QuiescentGSE19898 39362918 39363390 472 519
p130 QuiescentGSE19898 39377866 39378339 473 15467
p130 SenescentGSE19898 39362431 39363197 766 179
p130 SenescentGSE19898 39377425 39378441 1016 15298
p130 shRbQuiescentGSE19898 39362497 39363103 606 165
p130 shRbQuiescentGSE19898 39363177 39363499 322 703
p130 shRbQuiescentGSE19898 39377794 39378573 779 15548
p130 shRbSenescentGSE19898 39362588 39362957 369 137
p130 shRbSenescentGSE19898 39363012 39363381 369 561
p130 shRbSenescentGSE19898 39377546 39378587 1041 15431
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 39162865 39163118 253 0
CTCF CD4GSE12889 39213624 39213975 351 0
CTCF CD4GSE12889 39251328 39251570 242 0
CTCF CD4SISSRdata 39162865 39163118 253 0
CTCF CD4SISSRdata 39213624 39213975 351 0
CTCF CD4SISSRdata 39251328 39251570 242 0
CTCF G2GSE9613 39213622 39214015 393 0
FOXA1 MCF7GSE15244 39178777 39179181 404 0
FOXA1 MCF7GSE15244 39218100 39218493 393 0
FOXA1 MCF7GSE15244 39224982 39225456 474 0
Fos K562GSE19551 39225119 39225481 362 0
Fos K562GSE19551 39346435 39346855 420 0
FoxA1 MCF7MACSdata 39224494 39224751 257 0
Gata1 K562GSE18868 39277923 39278473 550 0
Gata2 K562GSE18868 39278009 39278674 665 0
Gata2 K562GSE18868 39286371 39286955 584 0
Myc K562GSE19551 39195031 39195403 372 0
Myc K562GSE19551 39225232 39225491 259 0
Myc K562GSE19551 39278007 39278415 408 0
NFkBII GM12878GSE19485 39318170 39321127 2957 0
NFkBII GM15510GSE19485 39318181 39320436 2255 0
Nanog ESGSE20650 39333486 39333905 419 0
Nanog hESGSE18292 39198056 39198364 308 0
Nanog hESGSE18292 39217866 39218264 398 0
Nanog hESGSE18292 39250510 39250744 234 0
Nanog hESGSE18292 39260739 39261043 304 0
RARA MCF7GSE15244 39224982 39225839 857 0
RARG MCF7GSE15244 39224982 39225456 474 0
STAT1 HeLaGSE12783 39204994 39206678 1684 0
Sox2 hESGSE18292 39243574 39243863 289 0
TFAP2C MCF7GSE21234 39136098 39136735 637 0
TFAP2C MCF7GSE21234 39314743 39315071 328 0
VDR GM10855-stimGSE22484 39139400 39142486 3086 0
VDR GM10861-stimGSE22484 39132679 39142357 9678 0
hScc1 BcellGSE12603 39140841 39141527 686 0
hScc1 BcellGSE12603 39162586 39163391 805 0
hScc1 BcellGSE12603 39187776 39187990 214 0
hScc1 BcellGSE12603 39318751 39319039 288 0
hScc1 BcellGSE12603 39362118 39362938 820 0
hScc1 CdLSGSE12603 39162369 39163356 987 0
hScc1 CdLSGSE12603 39213476 39214123 647 0
hScc1 CdLSGSE12603 39217997 39218724 727 0
hScc1 CdLSGSE12603 39250303 39250730 427 0
hScc1 G2GSE9613 39162621 39163391 770 0
p130 SenescentGSE19898 39152621 39152867 246 0
p63 keratinocytesGSE17611 39266993 39267768 775 0
p63 keratinocytesGSE17611 39353298 39354281 983 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-486-3p hsa-mir-486 8 20142475
hsa-miR-486-3p hsa-mir-486 8 20142475
hsa-miR-486-5p hsa-mir-486 8 20142475
hsa-miR-486-5p hsa-mir-486 8 20142475
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
17509 mRNA chr22 39242303 39247211 4908 mRNA MKL1 chr22 39130791 39357190 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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