AutismKB 2.0

Annotation Detail for DDI2


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Basic Information Top
Gene Symbol:DDI2 ( MGC14844,RP4-680D5.5 )
Gene Full Name: DNA-damage inducible 1 homolog 2 (S. cerevisiae)
Band: 1p36.21
Quick LinksEntrez ID:84301; OMIM: NA; Uniprot ID:DDI2_HUMAN; ENSEMBL ID: ENSG00000197312; HGNC ID: 24578
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
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult17 / 19391218
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal16 / 33603074
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver2 / 2077439
lung1 / 3369742
lymph0 / 442700 
lymph node2 / 9161021
mammary gland2 / 15327113
mouth3 / 6705244
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214583_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.45
Adipocyte8
AdrenalCortex9.1
Adrenalgland7
Amygdala8.25
Appendix14.75
AtrioventricularNode9
BDCA4+_DentriticCells8.55
Bonemarrow8.85
BronchialEpithelialCells7.8
CD105+_Endothelial10.2
CD14+_Monocytes8.6
CD19+_BCells(neg._sel.)8.55
CD33+_Myeloid10.2
CD34+11.35
CD4+_Tcells8.6
CD56+_NKCells9.35
CD71+_EarlyErythroid18.6
CD8+_Tcells7.65
CardiacMyocytes11.9
Caudatenucleus7.2
Cerebellum6.25
CerebellumPeduncles9.4
CiliaryGanglion8
CingulateCortex8.35
Colorectaladenocarcinoma7.45
DorsalRootGanglion8.45
FetalThyroid7.85
Fetalbrain7.8
Fetalliver7.3
Fetallung5.7
GlobusPallidus7.05
Heart11.25
Hypothalamus8.3
Kidney6.75
Leukemia_chronicMyelogenousK-5627.3
Leukemia_promyelocytic-HL-607.15
Leukemialymphoblastic(MOLT-4)6.25
Liver11.25
Lung8.75
Lymphnode6.75
Lymphoma_burkitts(Daudi)10.35
Lymphoma_burkitts(Raji)11.9
MedullaOblongata7.3
OccipitalLobe6.6
OlfactoryBulb5.6
Ovary5.55
Pancreas6.6
PancreaticIslet8.7
ParietalLobe8.8
Pituitary8.45
Placenta7.45
Pons7.85
PrefrontalCortex8.15
Prostate9.2
Salivarygland6.9
SkeletalMuscle11.75
Skin6.75
SmoothMuscle9.1
Spinalcord8.05
SubthalamicNucleus7.45
SuperiorCervicalGanglion10.55
TemporalLobe7.45
Testis6.85
TestisGermCell7.15
TestisIntersitial6.8
TestisLeydigCell8.45
TestisSeminiferousTubule6.9
Thalamus8.3
Thymus6.25
Thyroid9.9
Tongue8.85
Tonsil7.9
Trachea6.8
TrigeminalGanglion21.7
Uterus6.55
UterusCorpus8.7
WholeBlood8.75
Wholebrain5.4
colon8.1
pineal_day10.04
pineal_night9.68
retina9.725
small_intestine7.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_269_PI416573500
  • 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
Amygdala5.21 ± 0.31
Basal Forebrain5.11 ± 0.37
Basal Part of Pons4.94 ± 0.53
Cerebellar Cortex5.16 ± 0.37
Cerebellar Nuclei4.64 ± 0.47
Claustrum5.12 ± 0.69
Epithalamus4.68 ± 0.24
Frontal Lobe4.82 ± 0.46
Globus Pallidus4.96 ± 0.42
Hypothalamus4.37 ± 0.47
Insula4.94 ± 0.47
Limbic Lobe5.16 ± 0.49
Mesencephalon4.87 ± 0.61
Myelencephalon4.87 ± 0.51
Occipital Lobe5.01 ± 0.51
Parietal Lobe5.07 ± 0.54
Pontine Tegmentum4.99 ± 0.53
Striatum4.6 ± 0.59
Subthalamus4.57 ± 0.08
Temporal Lobe5.08 ± 0.43
Thalamus4.82 ± 0.54
White Matter5.63 ± 0.12
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DDI2_HUMAN_60 16 60 75 SLASYGLKDGDVVILR PRIDE
PAp00000003 28 32 59 ALCELESGIPAAESQIVYAERPLTDNHR 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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