AutismKB 2.0

Annotation Detail for DNM1L


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Basic Information Top
Gene Symbol:DNM1L ( DLP1,DRP1,DVLP,DYMPLE,DYNIV-11,FLJ41912,HDYNIV,VPS1 )
Gene Full Name: dynamin 1-like
Band: 12p11.21
Quick LinksEntrez ID:10059; OMIM: 603850; Uniprot ID:DNM1L_HUMAN; ENSEMBL ID: ENSG00000087470; HGNC ID: 2973
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
283N6-acetyllysine.
529Phosphoserine (By similarity).
548Phosphoserine.
616Phosphoserine; by CDK1.
637Phosphoserine; by CAMK1 and PKA.
644S-nitrosocysteine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
40Phosphoserine(PKG)HMM predict
40Phosphoserine(IKK)HMM predict
59Phosphothreonine(PKC)HMM predict
71Phosphoserine(ATM)HMM predict
78Phosphothreonine(PKC)HMM predict
79Phosphothreonine(CK2)HMM predict
113N-linkedHMM predict
126Phosphoserine(CDC2)HMM predict
141N-linkedHMM predict
246N-linkedHMM predict
280N-linkedHMM predict
398N-linkedHMM predict
448N-linkedHMM predict
544Phosphoserine(ATM)HMM predict
544O-linkedHMM predict
548Phosphoserine(CDC2)HMM predict
548Phosphoserine(IKK)HMM predict
548O-linkedHMM predict
637Phosphoserine(PKG)HMM predict
637Phosphoserine(PKA)HMM predict
637PhosphoserineHMM predict
660MethyllysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005690
  • Location:chr12 32723490-32787808
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 32716224 32716356 132 7201
CTCF CD4SISSRdata 32716224 32716356 132 7201
CTCF G2GSE9613 32705908 32706272 364 17401
CTCF G2GSE9613 32716125 32716787 662 7035
CTCF G2GSE9613 32719105 32719288 183 4294
CTCF G2GSE9613 32723122 32723846 724 7
Nanog hESGSE18292 32716198 32716480 282 7152
Oct1 HelaGSE14283 32713750 32713780 30 9726
Rb QuiescentGSE19898 32723293 32723578 285 55
hScc1 BcellGSE12603 32716125 32716507 382 7175
hScc1 BcellGSE12603 32719105 32719288 183 4294
hScc1 CdLSGSE12603 32716125 32716543 418 7157
hScc1 G2GSE9613 32716125 32716787 662 7035
p130 SenescentGSE19898 32723172 32723654 482 78
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 32733097 32733131 34 0
ER Fulvestrant-MCF7GSE14664 32785739 32785811 72 0
ETS1 JurkatGSE17954 32722913 32724502 1589 0
FOXA1 DLD1GSE12801 32780586 32781090 504 0
H3K4me3 colorectalcancer 32724142 32724489 347 0
H3ac HepG2E 32724107 32724851 744 0
Oct1 H2O2-HelaGSE14283 32735378 32735415 37 0
Oct1 HelaGSE14283 32733096 32733179 83 0
Oct1 HelaGSE14283 32734690 32734723 33 0
Oct1 HelaGSE14283 32735377 32735415 38 0
Oct1 HelaGSE14283 32757352 32757404 52 0
PHF8 293TGSE20725 32722668 32724340 1672 0
PHF8 HeLaGSE20725 32722821 32724538 1717 0
PHF8 Hs68plusFBSGSE20725 32723012 32724465 1453 0
Rb SenescentGSE19898 32723251 32723913 662 0
STAT1 HeLaGSE12783 32742229 32743258 1029 0
TAF HelaGSE8489 32723659 32725037 1378 0
TAF k562GSE8489 32723960 32724965 1005 0
p63 keratinocytesGSE17611 32762977 32763772 795 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-30a hsa-mir-30a 6 20062521
hsa-miR-30a* hsa-mir-30a 6 20062521
hsa-miR-30b hsa-mir-30b 8 20062521
hsa-miR-30b* hsa-mir-30b 8 20062521
hsa-miR-30c hsa-mir-30c-2 6 20062521
hsa-miR-30c hsa-mir-30c-1 1 20062521
hsa-miR-30c-1* hsa-mir-30c-1 1 20062521
hsa-miR-30c-2* hsa-mir-30c-2 6 20062521
hsa-miR-30d hsa-mir-30d 8 20062521
hsa-miR-30d* hsa-mir-30d 8 20062521
hsa-miR-30e hsa-mir-30e 1 20062521
hsa-miR-30e* hsa-mir-30e 1 20062521
hsa-miR-499-3p hsa-mir-499 20 21186368
hsa-miR-499-5p hsa-mir-499 20 21186368
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
5860 mRNA DNM1L chr12 32723490 32788621 130 mRNA CGI-04 chr12 32788347 32800080Sense/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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