AutismKB 2.0

Annotation Detail for MYH9


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Basic Information Top
Gene Symbol:MYH9 ( DFNA17,EPSTS,FTNS,MGC104539,MHA,NMHC-II-A,NMMHCA )
Gene Full Name: myosin, heavy chain 9, non-muscle
Band: 22q12.3
Quick LinksEntrez ID:4627; OMIM: 160775; Uniprot ID:MYH9_HUMAN; ENSEMBL ID: ENSG00000100345; HGNC ID: 7579
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
8N6-acetyllysine.
11Phosphotyrosine.
74N6-acetyllysine.
102N6-acetyllysine.
181Phosphothreonine (By similarity).
299N6-acetyllysine.
545N6-acetyllysine.
638Phosphothreonine (By similarity).
754Phosphotyrosine.
821N6-acetyllysine.
1024N6-acetyllysine.
1274N6-acetyllysine.
1357N6-acetyllysine.
1392N6-acetyllysine.
1404N6-acetyllysine.
1408Phosphotyrosine.
1410N6-acetyllysine.
1459N6-acetyllysine.
1638N6-acetyllysine.
1714Phosphoserine.
1943Phosphoserine.
Location(AA) Modifications Resource
2N-acetylalanine.Swiss-Prot 53.0
638Phosphothreonine (By similarity).Swiss-Prot 53.0
1915Phosphoserine (PKC alpha;PK)Phospho.ELM 6.0
1942PhosphoserinePhospho.ELM 6.0
1943Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
130Phosphotyrosine(INSR)HMM predict
231N-linkedHMM predict
248Phosphotyrosine(INSR)HMM predict
364Phosphoserine(IKK)HMM predict
381N-linkedHMM predict
406Phosphothreonine(CK2)HMM predict
470N-linkedHMM predict
473N-linkedHMM predict
481N-linkedHMM predict
492Phosphotyrosine(Syk)HMM predict
789S-palmitoylHMM predict
790S-palmitoylHMM predict
969Phosphothreonine(PKC)HMM predict
1007N-linkedHMM predict
1015Phosphoserine(CK1)HMM predict
1163Phosphoserine(CK1)HMM predict
1284N-linkedHMM predict
1290Phosphoserine(ATM)HMM predict
1294Phosphoserine(IKK)HMM predict
1297Phosphoserine(CDK)HMM predict
1300Phosphothreonine(PKC)HMM predict
1308Phosphoserine(ATM)HMM predict
1326Phosphoserine(PKG)HMM predict
1398Phosphoserine(ATM)HMM predict
1511Phosphoserine(CK1)HMM predict
1712N-linkedHMM predict
1825N-linkedHMM predict
1840Phosphothreonine(PKC)HMM predict
1861Phosphotyrosine(Syk)HMM predict
1890N-linkedHMM predict
1943PhosphoserineHMM predict
1943Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002473
  • Location:chr22 35007271-35113926
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 35131792 35132212 420 18076
CTCF CD4SISSRdata 35131792 35132212 420 18076
Fos K562GSE19551 35113834 35114538 704 260
Rb SenescentGSE19898 35113769 35114594 825 255
Rb shRbSenescenceGSE19898 35114014 35114307 293 234
TFAP2C MCF7GSE21234 35131699 35132131 432 17989
USF1 HepG2E 35123449 35123784 335 9690
hScc1 BcellGSE12603 35131679 35132094 415 17960
hScc1 CdLSGSE12603 35131679 35132094 415 17960
p130 QuiescentGSE19898 35113841 35114013 172 1
p130 QuiescentGSE19898 35114090 35114374 284 306
p130 SenescentGSE19898 35113894 35114503 609 272
p130 shRbSenescentGSE19898 35113784 35114366 582 149
p63 keratinocytesGSE17611 35121743 35122620 877 8255
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 35003670 35003947 277 3463
CTCF CD4SISSRdata 35003670 35003947 277 3463
CTCF HelaGSE12889 35003715 35003995 280 3417
CTCF JurkatGSE12889 35003549 35003891 342 3552
CTCF G2GSE9613 35003481 35004101 620 3481
FOXA1 MCF7GSE15244 35003481 35003702 221 3680
RARG MCF7GSE15244 35003481 35003774 293 3644
Rb SenescentGSE19898 35003646 35003962 316 3468
hScc1 BcellGSE12603 35003481 35004217 736 3423
hScc1 CdLSGSE12603 35003481 35004037 556 3513
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 35027099 35028613 1514 0
CTCF CD4GSE12889 35012450 35012863 413 0
CTCF CD4GSE12889 35027200 35027624 424 0
CTCF CD4GSE12889 35094308 35094527 219 0
CTCF CD4SISSRdata 35012450 35012863 413 0
CTCF CD4SISSRdata 35027200 35027624 424 0
CTCF CD4SISSRdata 35094308 35094527 219 0
CTCF HelaGSE12889 35012544 35012832 288 0
CTCF JurkatGSE12889 35012534 35012764 230 0
CTCF G2GSE9613 35012252 35012992 740 0
CTCF G2GSE9613 35024714 35024852 138 0
CTCF G2GSE9613 35027055 35027817 762 0
CTCF G2GSE9613 35057757 35058174 417 0
CTCF G2GSE9613 35112630 35113017 387 0
FOXA1 MCF7GSE15244 35037765 35038026 261 0
FOXA1 MCF7GSE15244 35057757 35058218 461 0
FOXA1 MCF7GSE15244 35069560 35070336 776 0
FOXA1 MCF7GSE15244 35077093 35079183 2090 0
FOXA1 MCF7GSE15244 35086937 35087426 489 0
FOXA1 MCF7GSE15244 35089131 35090388 1257 0
FOXA1 MCF7GSE15244 35096265 35096689 424 0
FOXA1 MCF7GSE15244 35111975 35113088 1113 0
Fos K562GSE19551 35090869 35091379 510 0
FoxA1 MCF7MACSdata 35089500 35089684 184 0
Gata1 K562GSE18868 35094324 35094944 620 0
Gata2 K562GSE18868 35060158 35060985 827 0
Gata2 K562GSE18868 35094188 35094928 740 0
H3K4me3 colorectalcancer 35112334 35112591 257 0
H3ac HepG2E 35076798 35079318 2520 0
H3ac HepG2E 35080749 35082121 1372 0
H3ac HepG2E 35083054 35083667 613 0
H3ac HepG2E 35111563 35112702 1139 0
Myc hESGSE17917 35027415 35027645 230 0
NFkBII GM10847GSE19485 35111524 35114770 3246 0
NFkBII GM12878GSE19485 35084532 35086181 1649 0
NFkBII GM12878GSE19485 35110675 35113461 2786 0
NFkBII GM12892GSE19485 35084639 35086475 1836 0
NFkBII GM12892GSE19485 35110508 35115181 4673 0
NFkBII GM15510GSE19485 35084736 35086181 1445 0
NFkBII GM15510GSE19485 35111391 35114952 3561 0
Nanog hESGSE18292 35068018 35068401 383 0
Nanog hESGSE18292 35111019 35111638 619 0
P300 T0-glioblastomaGSE21026 35027530 35028677 1147 0
P300 T30-glioblastomaGSE21026 35027096 35029215 2119 0
PHF8 293TGSE20725 35113133 35114241 1108 0
PHF8 HeLaGSE20725 35113046 35114121 1075 0
RARA MCF7GSE15244 35086937 35087743 806 0
RARA MCF7GSE15244 35095412 35096664 1252 0
RARG MCF7GSE15244 35069668 35070989 1321 0
RARG MCF7GSE15244 35075023 35075941 918 0
RARG MCF7GSE15244 35096265 35096664 399 0
Rb GrowingGSE19898 35109420 35109593 173 0
Rb GrowingGSE19898 35111972 35112133 161 0
SRF k562GSE8489 35080749 35081811 1062 0
STAT1 IFNSISSRdata 35012472 35012956 484 0
STAT1 IFNSISSRdata 35090964 35091624 660 0
TFAP2C MCF7GSE21234 35029807 35030229 422 0
TFAP2C MCF7GSE21234 35054703 35055079 376 0
TFAP2C MCF7GSE21234 35111843 35112673 830 0
USF2 HepG2E 35077093 35079318 2225 0
hScc1 BcellGSE12603 35011713 35012074 361 0
hScc1 BcellGSE12603 35012402 35012817 415 0
hScc1 BcellGSE12603 35014790 35015116 326 0
hScc1 BcellGSE12603 35027055 35027740 685 0
hScc1 BcellGSE12603 35039735 35040272 537 0
hScc1 BcellGSE12603 35062740 35062922 182 0
hScc1 BcellGSE12603 35082054 35082264 210 0
hScc1 BcellGSE12603 35084370 35084831 461 0
hScc1 BcellGSE12603 35088782 35089273 491 0
hScc1 BcellGSE12603 35109320 35109504 184 0
hScc1 BcellGSE12603 35111489 35112165 676 0
hScc1 BcellGSE12603 35112657 35114146 1489 0
hScc1 CdLSGSE12603 35012402 35012891 489 0
hScc1 CdLSGSE12603 35026876 35027782 906 0
p130 QuiescentGSE19898 35058770 35059259 489 0
p130 QuiescentGSE19898 35059288 35059411 123 0
p130 QuiescentGSE19898 35109293 35109531 238 0
p130 QuiescentGSE19898 35110679 35110911 232 0
p130 SenescentGSE19898 35058678 35059474 796 0
p130 shRbQuiescentGSE19898 35012101 35012766 665 0
p130 shRbQuiescentGSE19898 35058782 35059337 555 0
p130 shRbQuiescentGSE19898 35099364 35099931 567 0
p130 shRbSenescentGSE19898 35058687 35059380 693 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
316 Unknown MicroArray miR-124 MYH9 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000100345 G1-to-S transition n_a n_a "epithelium, lymphocyte, muscle cell, macrophage" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, sarcoma, tumour"
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
17418 EST chr22 35001825 35002770 867 mRNA MYH9 chr22 35001826 35108481Sense/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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