AutismKB 2.0

Annotation Detail for DDHD2


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Basic Information Top
Gene Symbol:DDHD2 ( KIAA0725,SAMWD1 )
Gene Full Name: DDHD domain containing 2
Band: 8p11.23
Quick LinksEntrez ID:23259; OMIM: NA; Uniprot ID:DDHD2_HUMAN; ENSEMBL ID: ENSG00000085788; HGNC ID: 29106
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 body3 / 7076142
blastocyst2 / 6231932
fetus32 / 56401256
neonate1 / 3109732
infant3 / 23620127
juvenile10 / 55556179
adult88 / 193912145
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor9 / 9417895
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor20 / 26384575
glioma1 / 1068839
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma7 / 7175597
non-neoplasia5 / 9725051
normal194 / 336030757
ovarian tumor0 / 766820 
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood8 / 12347864
bone3 / 7165541
bone marrow4 / 4880181
brain87 / 110098979
cervix1 / 4817120
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye9 / 21105442
heart2 / 8962622
intestine5 / 23447221
kidney14 / 21177766
larynx0 / 241450 
liver2 / 2077439
lung12 / 33697435
lymph0 / 442700 
lymph node6 / 9161065
mammary gland17 / 153271110
mouth2 / 6705229
muscle4 / 10771537
nerve4 / 15768253
ovary0 / 1020510 
pancreas21 / 21481297
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta6 / 28082521
prostate4 / 18934521
salivary gland2 / 2015599
skin1 / 2105744
spleen4 / 5395274
stomach3 / 9661931
testis28 / 33044284
thymus2 / 8113124
thyroid6 / 47473126
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus18 / 23287877
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212690_at
Cell line Expression level Expression bar
721_B_lymphoblasts77.4
Adipocyte32.05
AdrenalCortex18.6
Adrenalgland20.8
Amygdala354.5
Appendix17.1
AtrioventricularNode8.85
BDCA4+_DentriticCells65.05
Bonemarrow12.5
BronchialEpithelialCells40.8
CD105+_Endothelial94.35
CD14+_Monocytes11.45
CD19+_BCells(neg._sel.)125.7
CD33+_Myeloid23.4
CD34+106.95
CD4+_Tcells162.1
CD56+_NKCells115.5
CD71+_EarlyErythroid63.6
CD8+_Tcells165.9
CardiacMyocytes15.5
Caudatenucleus216.2
Cerebellum38.1
CerebellumPeduncles117.85
CiliaryGanglion8.6
CingulateCortex155
Colorectaladenocarcinoma11.8
DorsalRootGanglion26.75
FetalThyroid17.5
Fetalbrain170.6
Fetalliver18.9
Fetallung40.8
GlobusPallidus167.55
Heart12.3
Hypothalamus327.7
Kidney18.85
Leukemia_chronicMyelogenousK-562186.65
Leukemia_promyelocytic-HL-6026.1
Leukemialymphoblastic(MOLT-4)95.8
Liver11.75
Lung11.05
Lymphnode52.7
Lymphoma_burkitts(Daudi)12.85
Lymphoma_burkitts(Raji)15.05
MedullaOblongata174
OccipitalLobe243.15
OlfactoryBulb47.75
Ovary8.95
Pancreas8.85
PancreaticIslet67.15
ParietalLobe166.95
Pituitary95.45
Placenta19.05
Pons84.4
PrefrontalCortex369.45
Prostate52.25
Salivarygland29.8
SkeletalMuscle10.55
Skin8
SmoothMuscle31
Spinalcord232.15
SubthalamicNucleus207.05
SuperiorCervicalGanglion13.9
TemporalLobe89.05
Testis11.5
TestisGermCell32.25
TestisIntersitial16.2
TestisLeydigCell29.45
TestisSeminiferousTubule27.2
Thalamus178.2
Thymus17.35
Thyroid56.25
Tongue11.65
Tonsil13.3
Trachea26.65
TrigeminalGanglion10.8
Uterus42.45
UterusCorpus10.1
WholeBlood15.95
Wholebrain168.95
colon27.2
pineal_day197.02
pineal_night183.6
retina235.35
small_intestine28.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1873_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
Amygdala7.96 ± 0.22
Basal Forebrain8.23 ± 0.12
Basal Part of Pons8.45 ± 0.21
Cerebellar Cortex8.4 ± 0.18
Cerebellar Nuclei8.38 ± 0.29
Claustrum8.55 ± 0.29
Epithalamus8.03 ± 0.16
Frontal Lobe8.15 ± 0.27
Globus Pallidus8.12 ± 0.26
Hypothalamus7.92 ± 0.12
Insula8.04 ± 0.22
Limbic Lobe8.2 ± 0.26
Mesencephalon8.15 ± 0.31
Myelencephalon8.17 ± 0.28
Occipital Lobe8.47 ± 0.19
Parietal Lobe8.29 ± 0.2
Pontine Tegmentum8.1 ± 0.24
Striatum8.13 ± 0.3
Subthalamus8.43 ± 0.18
Temporal Lobe8.11 ± 0.24
Thalamus8.18 ± 0.19
White Matter8.53 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ddhd2CBCerebellum6.27
5.77
Ddhd2CTXCerebral cortex13.02
9.27
Ddhd2HIPHippocampal region18.74
19.32
Ddhd2HPFHippocampal formation18.09
16.57
Ddhd2HYHypothalamus0.96
0.8
Ddhd2LSXLateral septal complex3.19
2.31
Ddhd2MBMidbrain2.49
2.25
Ddhd2MYMedulla4.86
5.21
Ddhd2OLFOlfactory bulb11.62
7.97
Ddhd2PPons2.98
3.18
Ddhd2PALPallidum1.92
1.64
Ddhd2RHPRetrohippocampal region17.43
13.02
Ddhd2sAMYStriatum-like amygdalar nuclei3.65
2.21
Ddhd2STRStriatum2.75
1.83
Ddhd2STRdStriatum dorsal region2.86
1.95
Ddhd2STRvStriatum ventral region2.03
1.26
Ddhd2THThalamus3.91
3.26
Peptide Top

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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