AutismKB 2.0

Annotation Detail for MYOM1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MYOM1 ( MGC134946,MGC134947,SKELEMIN )
Gene Full Name: myomesin 1, 185kDa
Band: 18p11.31
Quick LinksEntrez ID:8736; OMIM: 603508; Uniprot ID:MYOM1_HUMAN; ENSEMBL ID: ENSG00000101605; HGNC ID: 7613
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
16Phosphothreonine(CK2)HMM predict
18Phosphothreonine(CK2)HMM predict
51O-linkedHMM predict
54O-linkedHMM predict
54Phosphothreonine(PKC)HMM predict
55O-linkedHMM predict
57O-linkedHMM predict
60O-linkedHMM predict
61O-linkedHMM predict
67O-linkedHMM predict
73O-linkedHMM predict
91Phosphothreonine(PKA)HMM predict
100Phosphoserine(CK1)HMM predict
228Phosphotyrosine(EGFR)HMM predict
228Phosphotyrosine(INSR)HMM predict
315Phosphoserine(CDC2)HMM predict
330Phosphothreonine(PKC)HMM predict
354SulfotyrosineHMM predict
421Phosphoserine(IKK)HMM predict
424N-linkedHMM predict
479Phosphoserine(IKK)HMM predict
479Phosphoserine(CDC2)HMM predict
483Phosphothreonine(PKC)HMM predict
496O-linkedHMM predict
496Phosphoserine(CK1)HMM predict
557Phosphoserine(CDC2)HMM predict
578Phosphoserine(PKG)HMM predict
656Phosphothreonine(PKC)HMM predict
686Phosphoserine(ATM)HMM predict
686Phosphoserine(CK1)HMM predict
702O-linkedHMM predict
832O-linkedHMM predict
840Phosphotyrosine(Jak)HMM predict
941Phosphotyrosine(Jak)HMM predict
957N-linkedHMM predict
1093N-linkedHMM predict
1095O-linkedHMM predict
1165Phosphoserine(CK2)HMM predict
1165Phosphoserine(CK1)HMM predict
1257N-linkedHMM predict
1261N-linkedHMM predict
1288Phosphothreonine(CDC2)HMM predict
1317Phosphotyrosine(EGFR)HMM predict
1317Phosphotyrosine(INSR)HMM predict
1321Phosphotyrosine(Syk)HMM predict
1357N-linkedHMM predict
1361N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003803
  • Location:chr18 3056805-3210105
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 3052985 3053310 325 3658
CTCF CD4SISSRdata 3052985 3053310 325 3658
CTCF JurkatGSE12889 3053032 3053378 346 3601
CTCF G2GSE9613 3055499 3055720 221 1196
FOXA1 MCF7GSE15244 3048339 3048821 482 8226
FOXA1 eGFPGSE10845 3048339 3048821 482 8226
FoxA1 MCF7MACSdata 3048431 3048661 230 8260
H3ac HepG2E 3051764 3052666 902 4591
USF2 HepG2E 3042165 3042777 612 14335
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 3075066 3075485 419 0
CTCF CD4GSE12889 3119308 3119687 379 0
CTCF CD4SISSRdata 3119308 3119687 379 0
CTCF JurkatGSE12889 3119289 3119557 268 0
CTCF G2GSE9613 3118901 3119724 823 0
CTCF G2GSE9613 3141556 3141959 403 0
H3ac HepG2E 3142762 3143168 406 0
Myc K562GSE19551 3119255 3119708 453 0
Myc K562GSE19551 3177382 3177683 301 0
Nanog ESGSE20650 3119339 3119714 375 0
Oct1 H2O2-HelaGSE14283 3089734 3089761 27 0
Oct1 H2O2-HelaGSE14283 3102001 3102027 26 0
Oct1 HelaGSE14283 3095968 3096002 34 0
Oct4 ESGSE20650 3082788 3083113 325 0
Oct4 hESGSE21916 3082614 3083211 597 0
TAF HelaGSE8489 3189856 3190064 208 0
USF1 HepG2E 3145533 3145842 309 0
USF1 HepG2E 3207218 3208447 1229 0
hScc1 BcellGSE12603 3119224 3119668 444 0
hScc1 BcellGSE12603 3141519 3141877 358 0
hScc1 CdLSGSE12603 3119121 3120011 890 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 19004760
hsa-miR-1 hsa-mir-1-1 20 19004760
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
11873 mRNA chr18 3180394 3237275 77 mRNA MYOM1 chr18 3056805 3210106Sense/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