AutismKB 2.0

Annotation Detail for DIAPH3


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Basic Information Top
Gene Symbol:DIAPH3 ( DKFZp434C0931,DKFZp686A13178,DRF3,FLJ34705,diap3,mDia2 )
Gene Full Name: diaphanous homolog 3 (Drosophila)
Band: 13q21.2
Quick LinksEntrez ID:81624; OMIM: NA; Uniprot ID:DIAP3_HUMAN; ENSEMBL ID: ENSG00000139734; HGNC ID: 15480
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 
blastocyst1 / 6231916
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult21 / 193912110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal49 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor13 / 125191103
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 
bladder1 / 2975733
blood2 / 12347816
bone3 / 7165541
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney6 / 21177728
larynx0 / 241450 
liver3 / 20774314
lung1 / 3369742
lymph0 / 442700 
lymph node3 / 9161032
mammary gland2 / 15327113
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis24 / 33044272
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_3812_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
Amygdala2.61 ± 1.09
Basal Forebrain2.51 ± 0.54
Basal Part of Pons1.9 ± 0.5
Cerebellar Cortex1.98 ± 0.74
Cerebellar Nuclei2.64 ± 0.63
Claustrum2.95 ± 0.87
Epithalamus1.88 ± 0.81
Frontal Lobe2 ± 0.72
Globus Pallidus2.7 ± 0.35
Hypothalamus2.26 ± 0.64
Insula1.9 ± 0.5
Limbic Lobe2.16 ± 0.76
Mesencephalon2.3 ± 0.75
Myelencephalon2.16 ± 0.67
Occipital Lobe2.15 ± 0.62
Parietal Lobe2.23 ± 0.85
Pontine Tegmentum2.2 ± 0.79
Striatum2.42 ± 0.64
Subthalamus2.28 ± 0.71
Temporal Lobe2.04 ± 0.76
Thalamus2.13 ± 0.64
White Matter2.51 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Diap3CBCerebellum0.46
0.9
Diap3CTXCerebral cortex0.88
1.13
Diap3HIPHippocampal region0.47
0.69
Diap3HPFHippocampal formation0.39
0.6
Diap3HYHypothalamus0.1
0.19
Diap3LSXLateral septal complex0.13
0.22
Diap3MBMidbrain0.21
0.35
Diap3MYMedulla0.19
0.37
Diap3OLFOlfactory bulb0.49
0.41
Diap3PPons0.27
0.49
Diap3PALPallidum0.04
0.03
Diap3RHPRetrohippocampal region0.24
0.45
Diap3sAMYStriatum-like amygdalar nuclei0.06
0
Diap3STRStriatum0.15
0.13
Diap3STRdStriatum dorsal region0.15
0.12
Diap3STRvStriatum ventral region0.25
0.14
Diap3THThalamus0.15
0.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DIAP3_HUMAN_1051 26 1051 1076 TEGDETGVMDNLLEALQSGAAFRDRR PRIDE
DIAP3_HUMAN_795 23 795 817 TEGDETGVMDNLLEALQSGAAFR PRIDE
PAp00502210 21 8 28 LHHPAQGSAAGTPYPSSASLR 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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