AutismKB 2.0

Annotation Detail for MAML2


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Basic Information Top
Gene Symbol:MAML2 ( DKFZp686N0150,KIAA1819,MAM-3,MAM2,MAM3,MGC176701,MLL-MAML2 )
Gene Full Name: mastermind-like 2 (Drosophila)
Band: 11q21
Quick LinksEntrez ID:84441; OMIM: 607537; Uniprot ID:MAML2_HUMAN; ENSEMBL ID: ENSG00000184384; HGNC ID: 16259
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
29Phosphothreonine(MAPK)HMM predict
96O-linkedHMM predict
98O-linkedHMM predict
101O-linkedHMM predict
102O-linkedHMM predict
103O-linkedHMM predict
116O-linkedHMM predict
116O-linkedHMM predict
121O-linkedHMM predict
121O-linkedHMM predict
140N-linkedHMM predict
143N-linkedHMM predict
144N-linkedHMM predict
159O-linkedHMM predict
160Phosphothreonine(MAPK)HMM predict
183N-linkedHMM predict
185Phosphoserine(CDC2)HMM predict
188N-linkedHMM predict
236Phosphoserine(ATM)HMM predict
266O-linkedHMM predict
331N-linkedHMM predict
352Phosphothreonine(MAPK)HMM predict
352O-linkedHMM predict
379Phosphoserine(CDK)HMM predict
399Phosphoserine(CK1)HMM predict
400O-linkedHMM predict
401O-linkedHMM predict
402O-linkedHMM predict
402Phosphoserine(CDC2)HMM predict
406Phosphoserine(ATM)HMM predict
410Phosphoserine(IKK)HMM predict
410Phosphoserine(ATM)HMM predict
410O-linkedHMM predict
418Phosphoserine(IKK)HMM predict
467O-linkedHMM predict
471Phosphoserine(ATM)HMM predict
471O-linkedHMM predict
482Phosphoserine(CDC2)HMM predict
491Phosphoserine(ATM)HMM predict
491Phosphoserine(CDC2)HMM predict
573Phosphoserine(ATM)HMM predict
577Phosphoserine(ATM)HMM predict
620Phosphoserine(IKK)HMM predict
632Phosphoserine(IKK)HMM predict
664O-linkedHMM predict
665Phosphoserine(ATM)HMM predict
665Phosphoserine(IKK)HMM predict
673Phosphoserine(ATM)HMM predict
679Phosphoserine(CDC2)HMM predict
714Phosphoserine(IKK)HMM predict
714Phosphoserine(CK1)HMM predict
723Phosphoserine(CDC2)HMM predict
723O-linkedHMM predict
725O-linkedHMM predict
738Phosphotyrosine(INSR)HMM predict
741Phosphoserine(ATM)HMM predict
756Phosphothreonine(PKC)HMM predict
792Phosphoserine(PKA)HMM predict
815O-linkedHMM predict
840Phosphothreonine(MAPK)HMM predict
840Phosphothreonine(CDK)HMM predict
842N-linkedHMM predict
847Phosphoserine(CK1)HMM predict
856Phosphoserine(PKA)HMM predict
878Phosphotyrosine(SRC)HMM predict
878Phosphotyrosine(Jak)HMM predict
940Phosphoserine(IKK)HMM predict
957N-linkedHMM predict
962N-linkedHMM predict
987O-linkedHMM predict
992Phosphothreonine(MAPK)HMM predict
992Phosphothreonine(CDK)HMM predict
1060N-linkedHMM predict
1067N-linkedHMM predict
1080Phosphothreonine(MAPK)HMM predict
1086Phosphoserine(CDK)HMM predict
1088N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032427
  • Location:chr11 95351087-95715991
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 95716069 95716378 309 232
CTCF JurkatGSE12889 95715945 95716289 344 126
KLF4 hESGSE17917 95715964 95716126 162 54
Oct1 HelaGSE14283 95717923 95717967 44 1954
hScc1 BcellGSE12603 95715508 95716510 1002 18
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 95334242 95334277 35 16828
FOXA1 DLD1GSE12801 95350297 95351266 969 306
FOXA1 MCF7GSE15244 95350436 95351006 570 367
FoxA1 MCF7MACSdata 95348250 95348433 183 2746
FoxA1 MCF7MACSdata 95350431 95350665 234 540
Oct1 HelaGSE14283 95342701 95342736 35 8369
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 95697355 95698404 1049 0
CTCF CD4GSE12889 95427714 95427935 221 0
CTCF CD4GSE12889 95464430 95464621 191 0
CTCF CD4SISSRdata 95427714 95427935 221 0
CTCF CD4SISSRdata 95464430 95464621 191 0
FOXA1 DLD1GSE12801 95366419 95366597 178 0
FOXA1 DLD1GSE12801 95387004 95387600 596 0
FOXA1 DLD1GSE12801 95580319 95580728 409 0
FOXA1 DLD1GSE12801 95651302 95651800 498 0
FOXA1 DLD1GSE12801 95684014 95684184 170 0
FOXA1 MCF7GSE15244 95468604 95468876 272 0
FOXA1 MCF7GSE15244 95471710 95472135 425 0
FOXA1 MCF7GSE15244 95518008 95518509 501 0
FOXA1 MCF7GSE15244 95645483 95645837 354 0
Fos K562GSE19551 95505204 95505690 486 0
GABP HelaGSE8489 95641815 95642267 452 0
GATA3 MCF7GSE15244 95471313 95472818 1505 0
GATA3 MCF7GSE15244 95518008 95518509 501 0
H3K4me3 colorectalcancer 95714971 95715760 789 0
H3ac HepG2E 95385985 95386223 238 0
H3ac HepG2E 95710639 95715912 5273 0
Myc K562GSE19551 95384937 95385465 528 0
Myc K562GSE19551 95615919 95616518 599 0
Myc hESGSE17917 95527162 95527490 328 0
NFkBII GM12878GSE19485 95485014 95486440 1426 0
NFkBII GM12878GSE19485 95528269 95530914 2645 0
NFkBII GM12878GSE19485 95710388 95717181 6793 0
NFkBII GM12892GSE19485 95528386 95530593 2207 0
NFkBII GM15510GSE19485 95528446 95530552 2106 0
Oct1 H2O2-HelaGSE14283 95362970 95363002 32 0
Oct1 H2O2-HelaGSE14283 95421537 95421567 30 0
Oct1 H2O2-HelaGSE14283 95423507 95423548 41 0
Oct1 H2O2-HelaGSE14283 95453964 95453993 29 0
Oct1 H2O2-HelaGSE14283 95608997 95609026 29 0
Oct1 H2O2-HelaGSE14283 95627181 95627209 28 0
Oct1 H2O2-HelaGSE14283 95657467 95657500 33 0
Oct1 H2O2-HelaGSE14283 95705811 95705845 34 0
Oct1 HelaGSE14283 95368307 95368343 36 0
Oct1 HelaGSE14283 95369855 95369900 45 0
Oct1 HelaGSE14283 95421535 95421569 34 0
Oct1 HelaGSE14283 95423508 95423547 39 0
Oct1 HelaGSE14283 95429815 95429858 43 0
Oct1 HelaGSE14283 95453964 95453993 29 0
Oct1 HelaGSE14283 95469932 95470010 78 0
Oct1 HelaGSE14283 95508594 95508671 77 0
Oct1 HelaGSE14283 95519469 95519518 49 0
Oct1 HelaGSE14283 95536232 95536270 38 0
Oct1 HelaGSE14283 95541590 95541629 39 0
Oct1 HelaGSE14283 95541795 95541827 32 0
Oct1 HelaGSE14283 95545035 95545063 28 0
Oct1 HelaGSE14283 95578591 95578660 69 0
Oct1 HelaGSE14283 95600920 95600952 32 0
Oct1 HelaGSE14283 95608988 95609027 39 0
Oct1 HelaGSE14283 95657453 95657501 48 0
Oct1 HelaGSE14283 95705812 95705875 63 0
P300 T0-glioblastomaGSE21026 95572819 95573655 836 0
P300 T0-glioblastomaGSE21026 95610294 95611796 1502 0
P300 T30-glioblastomaGSE21026 95541166 95542125 959 0
P300 T30-glioblastomaGSE21026 95572798 95573845 1047 0
P300 T30-glioblastomaGSE21026 95600919 95602552 1633 0
P300 T30-glioblastomaGSE21026 95635728 95636779 1051 0
P300 T30-glioblastomaGSE21026 95697444 95698427 983 0
RARA MCF7GSE15244 95468604 95468950 346 0
RARA MCF7GSE15244 95470995 95472386 1391 0
RARA MCF7GSE15244 95518008 95518509 501 0
RARA MCF7GSE15244 95645250 95646014 764 0
RARG MCF7GSE15244 95471143 95472386 1243 0
RARG MCF7GSE15244 95518008 95518509 501 0
RARG MCF7GSE15244 95645483 95645944 461 0
SRF HelaGSE8489 95615036 95616433 1397 0
SRF HelaGSE8489 95616769 95617349 580 0
SRF HelaGSE8489 95636100 95637116 1016 0
SRF k562GSE8489 95614463 95616433 1970 0
Stat6 IL-4-hr1GSE17850 95541068 95542022 954 0
TFAP2C MCF7GSE21234 95494839 95495143 304 0
USF1 HepG2E 95384767 95385577 810 0
USF2 HepG2E 95384853 95386223 1370 0
hScc1 BcellGSE12603 95384740 95385216 476 0
hScc1 BcellGSE12603 95465122 95465475 353 0
hScc1 BcellGSE12603 95539736 95539946 210 0
hScc1 BcellGSE12603 95616104 95616433 329 0
hScc1 BcellGSE12603 95627337 95627585 248 0
hScc1 BcellGSE12603 95629150 95629356 206 0
hScc1 BcellGSE12603 95714164 95714848 684 0
hScc1 CdLSGSE12603 95384740 95385322 582 0
hScc1 CdLSGSE12603 95427572 95427940 368 0
hScc1 CdLSGSE12603 95464311 95464665 354 0
hScc1 CdLSGSE12603 95528478 95529648 1170 0
hScc1 CdLSGSE12603 95561423 95561735 312 0
hScc1 CdLSGSE12603 95587968 95588491 523 0
hScc1 CdLSGSE12603 95615822 95616433 611 0
hScc1 CdLSGSE12603 95631181 95631548 367 0
hScc1 CdLSGSE12603 95714089 95715007 918 0
hScc1 CdLSGSE12603 95715415 95716510 1095 0
hScc1 G2GSE9613 95715508 95716438 930 0
p130 SenescentGSE19898 95521510 95521849 339 0
p130 shRbSenescentGSE19898 95615613 95616456 843 0
p63 keratinocytesGSE17611 95482190 95483102 912 0
p63 keratinocytesGSE17611 95495067 95496179 1112 0
p63 keratinocytesGSE17611 95580058 95580809 751 0
p63 keratinocytesGSE17611 95615785 95616586 801 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