AutismKB 2.0

Annotation Detail for MYOF


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Basic Information Top
Gene Symbol:MYOF ( FER1L3,FLJ36571,FLJ90777 )
Gene Full Name: myoferlin
Band: 10q23.33
Quick LinksEntrez ID:26509; OMIM: 604603; Uniprot ID:MYOF_HUMAN; ENSEMBL ID: ENSG00000138119; HGNC ID: 3656
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
174Phosphoserine.
458Phosphotyrosine.
884N6-acetyllysine.
1816Phosphotyrosine.
1915Phosphoserine.
1945Phosphoserine.
Location(AA) Modifications Resource
174Phosphoserine.Swiss-Prot 53.0
174PhosphoserinePhospho.ELM 6.0
1915Phosphoserine.Swiss-Prot 53.0
1915PhosphoserinePhospho.ELM 6.0
1945Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
167O-linkedHMM predict
172Phosphothreonine(PKC)HMM predict
174O-linkedHMM predict
183Phosphothreonine(PKC)HMM predict
193Phosphoserine(PKG)HMM predict
250N-linkedHMM predict
310Phosphoserine(CK1)HMM predict
315Phosphotyrosine(INSR)HMM predict
315Phosphotyrosine(Syk)HMM predict
338N-linkedHMM predict
340PhosphoserineHMM predict
378Phosphoserine(ATM)HMM predict
380Phosphothreonine(PKC)HMM predict
475Phosphoserine(CK1)HMM predict
477Phosphoserine(CK2)HMM predict
479O-linkedHMM predict
507Phosphotyrosine(INSR)HMM predict
509Phosphoserine(CDC2)HMM predict
575Phosphoserine(CAMK2)HMM predict
575Phosphoserine(PKG)HMM predict
619Phosphotyrosine(SRC)HMM predict
629SulfotyrosineHMM predict
631SulfotyrosineHMM predict
714N-linkedHMM predict
729Phosphoserine(CK1)HMM predict
731Phosphoserine(ATM)HMM predict
731Phosphoserine(CK1)HMM predict
804N-linkedHMM predict
935Phosphotyrosine(Syk)HMM predict
937N-linkedHMM predict
953Phosphotyrosine(Jak)HMM predict
953Phosphotyrosine(EGFR)HMM predict
953Phosphotyrosine(SRC)HMM predict
963Phosphoserine(CDC2)HMM predict
963Phosphoserine(MAPK)HMM predict
1034O-linkedHMM predict
1119Phosphothreonine(PKA)HMM predict
1158Phosphoserine(IKK)HMM predict
1174Phosphothreonine(PKC)HMM predict
1183N-linkedHMM predict
1198Phosphotyrosine(INSR)HMM predict
1233Phosphoserine(MAPK)HMM predict
1233Phosphoserine(CDC2)HMM predict
1291Phosphotyrosine(Abl)HMM predict
1291Phosphotyrosine(INSR)HMM predict
1326Phosphoserine(MAPK)HMM predict
1369Phosphotyrosine(INSR)HMM predict
1444Phosphothreonine(CK2)HMM predict
1444Phosphothreonine(PKC)HMM predict
1475Phosphotyrosine(Jak)HMM predict
1508Phosphoserine(PKB)HMM predict
1527SulfotyrosineHMM predict
1534Phosphoserine(IKK)HMM predict
1548Phosphoserine(ATM)HMM predict
1705SulfotyrosineHMM predict
1706Phosphoserine(CAMK2)HMM predict
1756Phosphoserine(ATM)HMM predict
1779N-linkedHMM predict
1915Phosphoserine(CDK)HMM predict
2051Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013451
  • Location:chr10 95056175-95232028
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 95232261 95232597 336 401
CTCF CD4SISSRdata 95232261 95232597 336 401
Rb GrowingGSE19898 95237955 95238161 206 6030
Rb SenescentGSE19898 95232153 95232412 259 254
Rb SenescentGSE19898 95232651 95232909 258 752
TFAP2C MCF7GSE21234 95231788 95232426 638 79
hScc1 BcellGSE12603 95232041 95232805 764 395
hScc1 CdLSGSE12603 95231929 95232805 876 339
hScc1 G2GSE9613 95231811 95232731 920 243
p130 QuiescentGSE19898 95232167 95232431 264 271
p130 SenescentGSE19898 95232243 95232427 184 307
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 95053131 95053527 396 2847
CTCF CD4GSE12889 95038904 95039092 188 17178
CTCF CD4SISSRdata 95038904 95039092 188 17178
CTCF JurkatGSE12889 95038861 95039126 265 17182
Nanog hESGSE18292 95049633 95050151 518 6284
Oct1 H2O2-HelaGSE14283 95052572 95052616 44 3582
Oct1 HelaGSE14283 95052572 95052604 32 3588
Oct4 hESGSE17917 95038820 95039081 261 17225
P300 T30-glioblastomaGSE21026 95038505 95039399 894 17224
RARA MCF7GSE15244 95038566 95038941 375 17422
RARG MCF7GSE15244 95038566 95038941 375 17422
hScc1 BcellGSE12603 95038463 95039311 848 17289
hScc1 CdLSGSE12603 95038463 95039276 813 17306
hScc1 G2GSE9613 95038566 95039276 710 17255
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 95107498 95107717 219 0
CTCF CD4GSE12889 95126191 95126504 313 0
CTCF CD4SISSRdata 95107498 95107717 219 0
CTCF CD4SISSRdata 95126191 95126504 313 0
ER Fulvestrant-MCF7GSE14664 95103061 95103143 82 0
ER MCF7GSE19013 95184617 95185463 846 0
ER MCF7GSE19013 95215591 95216216 625 0
ER MCF7GSE10800 95184477 95184988 511 0
FOXA1 MCF7GSE15244 95184724 95184988 264 0
FOXA1 MCF7GSE15244 95194913 95196091 1178 0
FoxA1 MCF7MACSdata 95195220 95195726 506 0
H3K4me2 HCT116GSE10453 95184724 95184988 264 0
H3K4me2 HCT116GSE10453 95231278 95232184 906 0
H3K4me3 colorectalcancer 95231383 95232359 976 0
NRSF JurkatGSE13047 95166647 95167594 947 0
NRSF mAbJurkat 95164791 95165958 1167 0
NRSF mAbJurkat 95166830 95168874 2044 0
NRSF-mono JurkatQuESTdata 95167008 95167512 504 0
NRSF-poly JurkatQuESTdata 95166821 95167457 636 0
Nanog hESGSE18292 95083360 95083524 164 0
Nanog hESGSE18292 95126247 95126525 278 0
Nanog hESGSE18292 95133104 95133304 200 0
Nanog hESGSE18292 95172116 95172296 180 0
Oct1 H2O2-HelaGSE14283 95073088 95073116 28 0
Oct1 H2O2-HelaGSE14283 95078902 95078931 29 0
Oct1 HelaGSE14283 95073087 95073116 29 0
Oct1 HelaGSE14283 95075223 95075253 30 0
Oct1 HelaGSE14283 95078901 95078932 31 0
Oct1 HelaGSE14283 95096431 95096464 33 0
Oct1 HelaGSE14283 95103065 95103143 78 0
Oct1 HelaGSE14283 95120865 95120951 86 0
Oct1 HelaGSE14283 95143869 95143915 46 0
Oct1 HelaGSE14283 95158891 95158925 34 0
Oct1 HelaGSE14283 95170575 95170606 31 0
Oct1 HelaGSE14283 95171792 95171823 31 0
Oct1 HelaGSE14283 95212608 95212641 33 0
Oct4 ESGSE20650 95227155 95227435 280 0
Oct4 hESGSE17917 95195353 95195666 313 0
P300 T30-glioblastomaGSE21026 95208184 95209787 1603 0
PolII HeLaGSE12783 95230358 95232550 2192 0
RARA MCF7GSE15244 95113423 95114498 1075 0
RARA MCF7GSE15244 95184571 95184988 417 0
RARA MCF7GSE15244 95188343 95188829 486 0
RARA MCF7GSE15244 95195151 95196055 904 0
RARA MCF7GSE15244 95215647 95216368 721 0
RARA MCF7GSE15244 95219176 95219521 345 0
RARA MCF7GSE15244 95231490 95232359 869 0
RARG MCF7GSE15244 95113423 95114498 1075 0
RARG MCF7GSE15244 95124202 95124568 366 0
RARG MCF7GSE15244 95184610 95184988 378 0
RARG MCF7GSE15244 95188126 95188829 703 0
RARG MCF7GSE15244 95214175 95214390 215 0
RARG MCF7GSE15244 95215788 95216368 580 0
RARG MCF7GSE15244 95217955 95218639 684 0
RARG MCF7GSE15244 95219176 95219521 345 0
RARG MCF7GSE15244 95222953 95223930 977 0
RARG MCF7GSE15244 95231420 95232294 874 0
Rb SenescentGSE19898 95230644 95230949 305 0
SRF HelaGSE8489 95184639 95184988 349 0
SRF HelaGSE8489 95185725 95187273 1548 0
STAT1 HeLaGSE12783 95211883 95215147 3264 0
Sox2 hESGSE18292 95126097 95126703 606 0
TAF HelaGSE8489 95231278 95232475 1197 0
TFAP2C MCF7GSE21234 95133743 95134374 631 0
TFAP2C MCF7GSE21234 95188450 95189221 771 0
TFAP2C MCF7GSE21234 95195062 95195671 609 0
TFAP2C MCF7GSE21234 95215367 95216522 1155 0
USF2 HepG2E 95176120 95176318 198 0
hScc1 BcellGSE12603 95107382 95107677 295 0
hScc1 BcellGSE12603 95126018 95126798 780 0
hScc1 CdLSGSE12603 95102237 95102927 690 0
hScc1 CdLSGSE12603 95107354 95107677 323 0
hScc1 CdLSGSE12603 95125731 95126694 963 0
hScc1 G2GSE9613 95126018 95126740 722 0
p130 QuiescentGSE19898 95208450 95209007 557 0
p130 QuiescentGSE19898 95231787 95232156 369 0
p130 SenescentGSE19898 95208354 95209145 791 0
p130 SenescentGSE19898 95220808 95221089 281 0
p130 SenescentGSE19898 95230650 95230821 171 0
p130 SenescentGSE19898 95231774 95232196 422 0
p130 shRbQuiescentGSE19898 95133371 95134015 644 0
p130 shRbQuiescentGSE19898 95208535 95209295 760 0
p130 shRbSenescentGSE19898 95230606 95230899 293 0
p63 keratinocytesGSE17611 95162687 95163736 1049 0
p63 keratinocytesGSE17611 95215298 95216551 1253 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