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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body9 / 70761127
blastocyst6 / 6231996
fetus111 / 564012196
neonate11 / 31097353
infant5 / 23620211
juvenile10 / 55556179
adult309 / 1939121159
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor5 / 34366145
chondrosarcoma7 / 8282384
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor15 / 119369125
germ cell tumor130 / 263845492
glioma3 / 10688328
head and neck tumor35 / 136302256
kidney tumor7 / 68959101
leukemia4 / 9584241
liver tumor18 / 96359186
lung tumor8 / 10312777
lymphoma6 / 7175583
non-neoplasia10 / 97250102
normal583 / 3360307173
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor30 / 125191239
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites6 / 40015149
bladder5 / 29757168
blood8 / 12347864
bone6 / 7165583
bone marrow2 / 4880140
brain362 / 1100989328
cervix9 / 48171186
connective tissue36 / 149255241
ear5 / 16212308
embryonic tissue29 / 215722134
esophagus1 / 2020949
eye23 / 211054108
heart6 / 8962666
intestine10 / 23447242
kidney26 / 211777122
larynx0 / 241450 
liver25 / 207743120
lung30 / 33697489
lymph4 / 4427090
lymph node16 / 91610174
mammary gland6 / 15327139
mouth27 / 67052402
muscle3 / 10771527
nerve1 / 1576863
ovary7 / 10205168
pancreas4 / 21481218
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland5 / 16585301
placenta34 / 280825121
prostate16 / 18934584
salivary gland1 / 2015549
skin24 / 210574113
spleen1 / 5395218
stomach12 / 96619124
testis127 / 330442384
thymus11 / 81131135
thyroid8 / 47473168
tonsil0 / 169990 
trachea20 / 52413381
umbilical cord0 / 136800 
uterus35 / 232878150
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203105_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts203.2
Adipocyte31.4
AdrenalCortex9.9
Adrenalgland8.25
Amygdala33.45
Appendix10.5
AtrioventricularNode8.3
BDCA4+_DentriticCells102.7
Bonemarrow10.3
BronchialEpithelialCells55.5
CD105+_Endothelial69.15
CD14+_Monocytes33.2
CD19+_BCells(neg._sel.)16.75
CD33+_Myeloid90.15
CD34+166.3
CD4+_Tcells35.35
CD56+_NKCells47.3
CD71+_EarlyErythroid73.3
CD8+_Tcells35.55
CardiacMyocytes19.8
Caudatenucleus18.25
Cerebellum9.2
CerebellumPeduncles15.45
CiliaryGanglion7.4
CingulateCortex21
Colorectaladenocarcinoma13.05
DorsalRootGanglion8
FetalThyroid9.6
Fetalbrain28.65
Fetalliver12.1
Fetallung16.45
GlobusPallidus9.3
Heart13.25
Hypothalamus45.35
Kidney11.1
Leukemia_chronicMyelogenousK-56221.45
Leukemia_promyelocytic-HL-6053.6
Leukemialymphoblastic(MOLT-4)14.1
Liver14.9
Lung9.1
Lymphnode8.5
Lymphoma_burkitts(Daudi)19.55
Lymphoma_burkitts(Raji)22.35
MedullaOblongata12.75
OccipitalLobe45.25
OlfactoryBulb7.35
Ovary6.95
Pancreas8.65
PancreaticIslet12.3
ParietalLobe31.35
Pituitary36.25
Placenta10.45
Pons22.15
PrefrontalCortex40.75
Prostate10.9
Salivarygland12.65
SkeletalMuscle14.7
Skin8.4
SmoothMuscle53.65
Spinalcord12.4
SubthalamicNucleus27.55
SuperiorCervicalGanglion12.5
TemporalLobe14.5
Testis9.85
TestisGermCell14.3
TestisIntersitial21.6
TestisLeydigCell13.1
TestisSeminiferousTubule28.8
Thalamus31.5
Thymus7
Thyroid12.3
Tongue10.9
Tonsil11
Trachea7.7
TrigeminalGanglion10.4
Uterus9.3
UterusCorpus10.05
WholeBlood14.85
Wholebrain12.6
colon11.5
pineal_day67.12
pineal_night65.22
retina15.65
small_intestine10.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P743907
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala9.28 ± 0.31
Basal Forebrain9.06 ± 0.12
Basal Part of Pons9.34 ± 0.29
Cerebellar Cortex9.35 ± 0.13
Cerebellar Nuclei9.29 ± 0.35
Claustrum9.5 ± 0.22
Epithalamus8.89 ± 0.34
Frontal Lobe9.39 ± 0.24
Globus Pallidus8.39 ± 0.24
Hypothalamus9.46 ± 0.23
Insula9.38 ± 0.17
Limbic Lobe9.31 ± 0.42
Mesencephalon9.26 ± 0.35
Myelencephalon9.22 ± 0.39
Occipital Lobe9.01 ± 0.39
Parietal Lobe9.3 ± 0.3
Pontine Tegmentum9.22 ± 0.28
Striatum8.84 ± 0.38
Subthalamus9.57 ± 0.21
Temporal Lobe9.38 ± 0.25
Thalamus9.15 ± 0.21
White Matter8.83 ± 0.23
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DNM1L_HUMAN_0 0 0 0 FATEYCNTIEGTAK PRIDE
DNM1L_HUMAN_133 19 133 151 IFSPNVVNLTLVDLPGMTK PRIDE
DNM1L_HUMAN_134 19 134 152 IFSPNVVNLTLVDLPGMTK PRIDE
DNM1L_HUMAN_216 17 216 232 LDLMDAGTDAMDVLMGR PRIDE
DNM1L_HUMAN_217 17 217 233 LDLMDAGTDAMDVLMGR PRIDE
DNM1L_HUMAN_339 14 339 352 FATEYCNTIEGTAK PRIDE
DNM1L_HUMAN_376 21 376 396 TLESVDPLGGLNTIDILTAIR PRIDE
DNM1L_HUMAN_38 10 38 47 SSVLESLVGR PRIDE
DNM1L_HUMAN_459 14 459 472 LHDAIVEVVTCLLR PRIDE
DNM1L_HUMAN_619 15 619 633 GHAVNLLDVPVPVAR PRIDE
DNM1L_HUMAN_693 17 693 709 SSLLDDLLTESEDMAQR PRIDE
DNM1L_HUMAN_718 13 718 730 ALQGASQIIAEIR PRIDE
PAp00003866 15 495 509 IIQHCSNYSTQELLR Peptide Atlas

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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