AutismKB 2.0

Annotation Detail for DBR1


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Basic Information Top
Gene Symbol:DBR1 ( - )
Gene Full Name: debranching enzyme homolog 1 (S. cerevisiae)
Band: 3q22.3
Quick LinksEntrez ID:51163; OMIM: 607024; Uniprot ID:DBR1_HUMAN; ENSEMBL ID: ENSG00000138231; HGNC ID: 15594
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 body1 / 7076114
blastocyst3 / 6231948
fetus12 / 56401221
neonate4 / 31097128
infant1 / 2362042
juvenile1 / 5555617
adult41 / 193912121
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 tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal74 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow3 / 4880161
brain34 / 110098930
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine2 / 2344728
kidney7 / 21177733
larynx0 / 241450 
liver4 / 20774319
lung2 / 3369745
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth3 / 6705244
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta8 / 28082528
prostate2 / 18934510
salivary gland0 / 201550 
skin12 / 21057456
spleen1 / 5395218
stomach1 / 9661910
testis2 / 3304426
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219149_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.1
Adipocyte13.15
AdrenalCortex25.7
Adrenalgland11.65
Amygdala12.9
Appendix28.95
AtrioventricularNode29.45
BDCA4+_DentriticCells14.25
Bonemarrow14.5
BronchialEpithelialCells12.1
CD105+_Endothelial12.9
CD14+_Monocytes14.3
CD19+_BCells(neg._sel.)13.3
CD33+_Myeloid15.75
CD34+15.8
CD4+_Tcells14.15
CD56+_NKCells14.5
CD71+_EarlyErythroid12.7
CD8+_Tcells12.1
CardiacMyocytes21.25
Caudatenucleus11.85
Cerebellum11.15
CerebellumPeduncles18.4
CiliaryGanglion49.5
CingulateCortex15.9
Colorectaladenocarcinoma13.15
DorsalRootGanglion18.05
FetalThyroid16.05
Fetalbrain14.1
Fetalliver11.95
Fetallung9.95
GlobusPallidus13
Heart19
Hypothalamus13.5
Kidney11.55
Leukemia_chronicMyelogenousK-56211.8
Leukemia_promyelocytic-HL-6011.3
Leukemialymphoblastic(MOLT-4)11.6
Liver19.05
Lung14.05
Lymphnode10.85
Lymphoma_burkitts(Daudi)16.8
Lymphoma_burkitts(Raji)19.65
MedullaOblongata11.5
OccipitalLobe11.7
OlfactoryBulb10.25
Ovary30.55
Pancreas11
PancreaticIslet14
ParietalLobe14.7
Pituitary15.5
Placenta12.7
Pons14.6
PrefrontalCortex15.5
Prostate14.65
Salivarygland15.2
SkeletalMuscle25.75
Skin48.7
SmoothMuscle14.65
Spinalcord13.35
SubthalamicNucleus12.9
SuperiorCervicalGanglion45.75
TemporalLobe12.75
Testis11.05
TestisGermCell10.85
TestisIntersitial13.7
TestisLeydigCell16.05
TestisSeminiferousTubule11.6
Thalamus13.7
Thymus10.45
Thyroid15.4
Tongue23.65
Tonsil13.5
Trachea10.85
TrigeminalGanglion27.9
Uterus10.4
UterusCorpus19.15
WholeBlood13.85
Wholebrain9.3
colon13
pineal_day15.82
pineal_night15.8
retina16.15
small_intestine12.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1173_PI416261804
  • 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
Amygdala6.49 ± 0.42
Basal Forebrain6.44 ± 0.24
Basal Part of Pons5.99 ± 0.36
Cerebellar Cortex6.46 ± 0.2
Cerebellar Nuclei6.27 ± 0.41
Claustrum6.55 ± 0.41
Epithalamus6.5 ± 0.22
Frontal Lobe6.14 ± 0.32
Globus Pallidus6.57 ± 0.25
Hypothalamus6.27 ± 0.34
Insula6.18 ± 0.23
Limbic Lobe6.26 ± 0.34
Mesencephalon6.36 ± 0.32
Myelencephalon6.27 ± 0.36
Occipital Lobe6.56 ± 0.37
Parietal Lobe6.18 ± 0.31
Pontine Tegmentum6.36 ± 0.35
Striatum6.44 ± 0.37
Subthalamus6.25 ± 0.13
Temporal Lobe6.18 ± 0.29
Thalamus6.24 ± 0.25
White Matter7.16 ± 0.27
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00028313 23 3 25 VAVAGCCHGELDKIYETLALAER 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