AutismKB 2.0

Annotation Detail for DMD


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Basic Information Top
Gene Symbol:DMD ( BMD,CMD3B,DXS142,DXS164,DXS206,DXS230,DXS239,DXS268,DXS269,DXS270,DXS272 )
Gene Full Name: dystrophin
Band: Xp21.2-p21.1
Quick LinksEntrez ID:1756; OMIM: 300377; Uniprot ID:DMD_HUMAN; ENSEMBL ID: ENSG00000198947; HGNC ID: 2928
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1590Phosphothreonine.
3483Phosphoserine.
3613Phosphoserine.
3616Phosphothreonine.
3617Phosphoserine.
3621Phosphoserine.
3623Phosphoserine.
3624Phosphoserine (By similarity).
3652Phosphothreonine.
3666Phosphoserine.
Location(AA) Modifications Resource
1590Phosphothreonine.Swiss-Prot 53.0
1590PhosphothreoninePhospho.ELM 6.0
3624Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
69Phosphothreonine(PKC)HMM predict
158N-linkedHMM predict
275Phosphoserine(ATM)HMM predict
291Phosphoserine(CDC2)HMM predict
291Phosphoserine(CDK)HMM predict
308O-linkedHMM predict
309O-linkedHMM predict
309O-linkedHMM predict
313O-linkedHMM predict
313O-linkedHMM predict
315Phosphoserine(CDC2)HMM predict
315O-linkedHMM predict
329Phosphoserine(IKK)HMM predict
385Phosphotyrosine(Syk)HMM predict
413Phosphoserine(PKG)HMM predict
413Phosphoserine(CK2)HMM predict
467Phosphothreonine(CDK)HMM predict
521Phosphoserine(CK1)HMM predict
666Phosphoserine(ATM)HMM predict
666O-linkedHMM predict
670O-linkedHMM predict
675O-linkedHMM predict
675O-linkedHMM predict
680O-linkedHMM predict
859O-linkedHMM predict
859Phosphothreonine(CDC2)HMM predict
861O-linkedHMM predict
972Phosphotyrosine(INSR)HMM predict
1020Phosphoserine(CK2)HMM predict
1174Phosphothreonine(PKC)HMM predict
1180Phosphotyrosine(Syk)HMM predict
1223Phosphoserine(CK1)HMM predict
1375Phosphothreonine(PKC)HMM predict
1423Phosphoserine(CK1)HMM predict
1535Phosphothreonine(PKC)HMM predict
1560Phosphothreonine(PKC)HMM predict
1654Phosphoserine(CK1)HMM predict
1773Phosphothreonine(PKC)HMM predict
1902Phosphoserine(PKA)HMM predict
2079Phosphoserine(ATM)HMM predict
2157Phosphothreonine(PKC)HMM predict
2163N-linkedHMM predict
2271N-linkedHMM predict
2280O-linkedHMM predict
2284PhosphoserineHMM predict
2284Phosphoserine(MAPK)HMM predict
2384Phosphoserine(CK1)HMM predict
2407Phosphoserine(CK1)HMM predict
2433O-linkedHMM predict
2437O-linkedHMM predict
2443O-linkedHMM predict
2457Phosphoserine(PKG)HMM predict
2495Phosphoserine(ATM)HMM predict
2539N-linkedHMM predict
2543N-linkedHMM predict
2667N-linkedHMM predict
2803Phosphoserine(CK1)HMM predict
2899N-linkedHMM predict
2991N-linkedHMM predict
2996N-linkedHMM predict
3066Phosphoserine(CDK)HMM predict
3066Phosphoserine(CDC2)HMM predict
3108Phosphothreonine(PKC)HMM predict
3343Phosphoserine(CDK)HMM predict
3361Phosphothreonine(MAPK)HMM predict
3363O-linkedHMM predict
3420O-linkedHMM predict
3451N-linkedHMM predict
3456N-linkedHMM predict
3462N-linkedHMM predict
3464Phosphoserine(PKA)HMM predict
3464Phosphoserine(CK2)HMM predict
3486Phosphoserine(ATM)HMM predict
3490Phosphoserine(IKK)HMM predict
3490Phosphoserine(CDC2)HMM predict
3490Phosphoserine(CDK)HMM predict
3541Phosphoserine(ATM)HMM predict
3541PhosphoserineHMM predict
3541Phosphoserine(CDC2)HMM predict
3548O-linkedHMM predict
3549Phosphoserine(CDK)HMM predict
3549Phosphoserine(ATM)HMM predict
3607N-linkedHMM predict
3609O-linkedHMM predict
3610O-linkedHMM predict
3612Phosphoserine(IKK)HMM predict
3612O-linkedHMM predict
3613O-linkedHMM predict
3613Phosphoserine(CDC2)HMM predict
3617Phosphoserine(CK1)HMM predict
3624Phosphoserine(ATM)HMM predict
3647Phosphoserine(MAPK)HMM predict
3647Phosphoserine(ATM)HMM predict
3664N-linkedHMM predict
3665N-linkedHMM predict
3671MethylarginineHMM predict
3676ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000109
  • Location:chrX 31047265-33267646
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 33275128 33275163 35 7499
ER E2-MCF7GSE14664 33276481 33276520 39 8854
Oct1 HelaGSE14283 33276477 33276516 39 8850
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 33177014 33177043 29 0
Oct1 H2O2-HelaGSE14283 33198805 33198833 28 0
Oct1 H2O2-HelaGSE14283 33233049 33233086 37 0
Oct1 HelaGSE14283 33177012 33177045 33 0
Oct1 HelaGSE14283 33181071 33181104 33 0
Oct1 HelaGSE14283 33185939 33185985 46 0
Oct1 HelaGSE14283 33198710 33198748 38 0
Oct1 HelaGSE14283 33198805 33198833 28 0
Oct1 HelaGSE14283 33210097 33210126 29 0
Oct1 HelaGSE14283 33233053 33233085 32 0
Oct1 HelaGSE14283 33252471 33252516 45 0
Oct1 HelaGSE14283 33255081 33255137 56 0
Oct1 HelaGSE14283 33258349 33258419 70 0
Oct1 HelaGSE14283 33262199 33262231 32 0
STAT1 HeLaGSE12783 33139368 33140121 753 0
p63 keratinocytesGSE17611 33235947 33236584 637 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-146a hsa-mir-146a 5 20641033
hsa-miR-146a* hsa-mir-146a 5 20641033
hsa-miR-146b-3p hsa-mir-146b 10 20641033
hsa-miR-146b-5p hsa-mir-146b 10 20641033
hsa-miR-30a hsa-mir-30a 6 20807818
hsa-miR-30a* hsa-mir-30a 6 20807818
hsa-miR-30b hsa-mir-30b 8 20807818
hsa-miR-30b* hsa-mir-30b 8 20807818
hsa-miR-30c hsa-mir-30c-2 6 20807818
hsa-miR-30c hsa-mir-30c-1 1 20807818
hsa-miR-30c-1* hsa-mir-30c-1 1 20807818
hsa-miR-30c-2* hsa-mir-30c-2 6 20807818
hsa-miR-30d hsa-mir-30d 8 20807818
hsa-miR-30d* hsa-mir-30d 8 20807818
hsa-miR-30e hsa-mir-30e 1 20807818
hsa-miR-30e* hsa-mir-30e 1 20807818
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
27491 EST chrX 32819247 32819675 428 mRNA DMD chrX 32797927 32906202 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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