AutismKB 2.0

Annotation Detail for DIAPH2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DIAPH2 ( DIA,DIA2,DRF2,FLJ11167,POF,POF2 )
Gene Full Name: diaphanous homolog 2 (Drosophila)
Band: Xq21.33
Quick LinksEntrez ID:1730; OMIM: 300108; Uniprot ID:DIAP2_HUMAN; ENSEMBL ID: ENSG00000147202; HGNC ID: 2877
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 body0 / 707610 
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult54 / 193912127
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) tumor1 / 9417810
cervical tumor3 / 3436687
chondrosarcoma0 / 828230 
colorectal tumor5 / 11424643
esophageal tumor3 / 17290173
gastrointestinal tumor1 / 1193698
germ cell tumor24 / 26384590
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal46 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone0 / 716550 
bone marrow1 / 4880120
brain8 / 11009897
cervix4 / 4817183
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus3 / 20209148
eye0 / 2110540 
heart0 / 896260 
intestine7 / 23447229
kidney2 / 2117779
larynx2 / 2414582
liver3 / 20774314
lung3 / 3369748
lymph1 / 4427022
lymph node0 / 916100 
mammary gland2 / 15327113
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate2 / 18934510
salivary gland0 / 201550 
skin12 / 21057456
spleen0 / 539520 
stomach1 / 9661910
testis29 / 33044287
thymus0 / 811310 
thyroid0 / 474730 
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: 205603_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.4
Adipocyte11.5
AdrenalCortex11.55
Adrenalgland8.5
Amygdala7.6
Appendix12.75
AtrioventricularNode8
BDCA4+_DentriticCells42.25
Bonemarrow9.15
BronchialEpithelialCells8.55
CD105+_Endothelial8.45
CD14+_Monocytes54.65
CD19+_BCells(neg._sel.)28.3
CD33+_Myeloid168.9
CD34+39.1
CD4+_Tcells13.45
CD56+_NKCells37.7
CD71+_EarlyErythroid8.35
CD8+_Tcells8.45
CardiacMyocytes14.8
Caudatenucleus7.95
Cerebellum7.2
CerebellumPeduncles10.3
CiliaryGanglion7.05
CingulateCortex9.15
Colorectaladenocarcinoma8.9
DorsalRootGanglion9.25
FetalThyroid8.85
Fetalbrain8.6
Fetalliver7.8
Fetallung8.85
GlobusPallidus8.55
Heart13.65
Hypothalamus8.85
Kidney7.6
Leukemia_chronicMyelogenousK-5627.4
Leukemia_promyelocytic-HL-607.85
Leukemialymphoblastic(MOLT-4)8.75
Liver12.4
Lung8.95
Lymphnode6.75
Lymphoma_burkitts(Daudi)14
Lymphoma_burkitts(Raji)13.2
MedullaOblongata8.05
OccipitalLobe7.45
OlfactoryBulb7.1
Ovary9.7
Pancreas8.95
PancreaticIslet9.5
ParietalLobe10.8
Pituitary10.25
Placenta8.8
Pons10.6
PrefrontalCortex10.3
Prostate9
Salivarygland8.9
SkeletalMuscle17.05
Skin7.4
SmoothMuscle10.85
Spinalcord9.4
SubthalamicNucleus8.2
SuperiorCervicalGanglion12.25
TemporalLobe8.35
Testis7.55
TestisGermCell11
TestisIntersitial8.3
TestisLeydigCell18.7
TestisSeminiferousTubule17.55
Thalamus9.1
Thymus6.2
Thyroid9.9
Tongue11.5
Tonsil8.9
Trachea7.4
TrigeminalGanglion10.05
Uterus11.5
UterusCorpus8.5
WholeBlood10.6
Wholebrain6.55
colon12.1
pineal_day11.32
pineal_night11.1
retina10.7
small_intestine8.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13614_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
Amygdala6.3 ± 0.63
Basal Forebrain6.03 ± 0.48
Basal Part of Pons5.68 ± 0.68
Cerebellar Cortex4.94 ± 0.32
Cerebellar Nuclei5.28 ± 0.61
Claustrum4.76 ± 0.79
Epithalamus5.96 ± 0.47
Frontal Lobe5.53 ± 0.71
Globus Pallidus6.22 ± 0.25
Hypothalamus5.2 ± 0.54
Insula5.85 ± 0.46
Limbic Lobe6.14 ± 0.8
Mesencephalon5.61 ± 0.75
Myelencephalon5.63 ± 0.62
Occipital Lobe5.46 ± 0.69
Parietal Lobe5.67 ± 0.64
Pontine Tegmentum5.57 ± 0.84
Striatum7.25 ± 0.46
Subthalamus5.38 ± 0.47
Temporal Lobe5.94 ± 0.51
Thalamus5 ± 0.61
White Matter5.67 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Diap2CBCerebellum5.05
7.15
Diap2CTXCerebral cortex15.61
10.87
Diap2HIPHippocampal region16.84
19.69
Diap2HPFHippocampal formation12.18
12.85
Diap2HYHypothalamus0.87
0.62
Diap2LSXLateral septal complex8.9
5.47
Diap2MBMidbrain4.28
3.86
Diap2MYMedulla5.23
5.56
Diap2OLFOlfactory bulb10.21
6.82
Diap2PPons4.72
5.19
Diap2PALPallidum2.69
1.93
Diap2RHPRetrohippocampal region3.35
2.37
Diap2sAMYStriatum-like amygdalar nuclei3.15
2.16
Diap2STRStriatum19.38
12.78
Diap2STRdStriatum dorsal region18.69
12.11
Diap2STRvStriatum ventral region35.86
23.48
Diap2THThalamus5.72
4.93
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DIAP2_HUMAN_1 22 1 22 MEQPGAAASGAGGGSEEPGGGR PRIDE
DIAP2_HUMAN_1049 22 1049 1070 EGDETGVMDNLLEALQSGAAFR PRIDE
PAp00096052 15 157 171 HECTLSSQEYVHELR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved