AutismKB 2.0

Annotation Detail for DDRGK1


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Basic Information Top
Gene Symbol:DDRGK1 ( C20orf116,MGC2592,dJ1187M17.3 )
Gene Full Name: DDRGK domain containing 1
Band: 20p13
Quick LinksEntrez ID:65992; OMIM: NA; Uniprot ID:DDRGK_HUMAN; ENSEMBL ID: ENSG00000198171; HGNC ID: 16110
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 body6 / 7076184
blastocyst0 / 623190 
fetus19 / 56401233
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult89 / 193912145
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor2 / 2638457
glioma8 / 10688374
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor7 / 9635972
lung tumor14 / 103127135
lymphoma9 / 71755125
non-neoplasia2 / 9725020
normal93 / 336030727
ovarian tumor21 / 76682273
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone5 / 7165569
bone marrow1 / 4880120
brain29 / 110098926
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye17 / 21105480
heart7 / 8962678
intestine7 / 23447229
kidney3 / 21177714
larynx1 / 2414541
liver7 / 20774333
lung32 / 33697494
lymph8 / 44270180
lymph node4 / 9161043
mammary gland1 / 1532716
mouth1 / 6705214
muscle5 / 10771546
nerve1 / 1576863
ovary23 / 102051225
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate4 / 18934521
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach7 / 9661972
testis5 / 33044215
thymus4 / 8113149
thyroid3 / 4747363
tonsil4 / 16999235
trachea2 / 5241338
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218159_at
Cell line Expression level Expression bar
721_B_lymphoblasts73.95
Adipocyte39.85
AdrenalCortex36.95
Adrenalgland46.5
Amygdala74.1
Appendix34.85
AtrioventricularNode30.45
BDCA4+_DentriticCells123.95
Bonemarrow40.65
BronchialEpithelialCells47.5
CD105+_Endothelial54.45
CD14+_Monocytes92.3
CD19+_BCells(neg._sel.)78.75
CD33+_Myeloid64.45
CD34+72.6
CD4+_Tcells54.3
CD56+_NKCells135.8
CD71+_EarlyErythroid43.45
CD8+_Tcells51.55
CardiacMyocytes28
Caudatenucleus35.95
Cerebellum29.4
CerebellumPeduncles52.45
CiliaryGanglion26
CingulateCortex38.25
Colorectaladenocarcinoma75.7
DorsalRootGanglion24.25
FetalThyroid51.5
Fetalbrain42.75
Fetalliver33.35
Fetallung42.05
GlobusPallidus29.15
Heart44.15
Hypothalamus52.4
Kidney28.65
Leukemia_chronicMyelogenousK-56229.9
Leukemia_promyelocytic-HL-6040.4
Leukemialymphoblastic(MOLT-4)36.3
Liver65.9
Lung273.15
Lymphnode28.65
Lymphoma_burkitts(Daudi)52.05
Lymphoma_burkitts(Raji)116.1
MedullaOblongata42.5
OccipitalLobe50.2
OlfactoryBulb35.7
Ovary25.6
Pancreas62.45
PancreaticIslet95.4
ParietalLobe34.35
Pituitary26.05
Placenta52.8
Pons43.4
PrefrontalCortex82.05
Prostate262.75
Salivarygland23.75
SkeletalMuscle15
Skin28.15
SmoothMuscle45.9
Spinalcord48.7
SubthalamicNucleus38.65
SuperiorCervicalGanglion30.3
TemporalLobe47.55
Testis34.35
TestisGermCell32.25
TestisIntersitial30.35
TestisLeydigCell28.55
TestisSeminiferousTubule22.8
Thalamus41.6
Thymus42
Thyroid145.15
Tongue23.55
Tonsil24.75
Trachea31.75
TrigeminalGanglion43.2
Uterus70.7
UterusCorpus26.8
WholeBlood50.05
Wholebrain159.6
colon41.2
pineal_day108.7
pineal_night109.32
retina77.825
small_intestine46.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7515_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
Amygdala8.06 ± 0.31
Basal Forebrain7.92 ± 0.31
Basal Part of Pons7.95 ± 0.3
Cerebellar Cortex8.09 ± 0.32
Cerebellar Nuclei7.84 ± 0.16
Claustrum8.36 ± 0.46
Epithalamus7.44 ± 0.34
Frontal Lobe7.83 ± 0.32
Globus Pallidus8.11 ± 0.26
Hypothalamus7.81 ± 0.23
Insula7.85 ± 0.2
Limbic Lobe7.95 ± 0.41
Mesencephalon7.88 ± 0.37
Myelencephalon7.88 ± 0.28
Occipital Lobe7.94 ± 0.3
Parietal Lobe7.92 ± 0.33
Pontine Tegmentum7.79 ± 0.31
Striatum7.88 ± 0.35
Subthalamus7.89 ± 0.14
Temporal Lobe7.88 ± 0.26
Thalamus7.71 ± 0.31
White Matter8.95 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2600009E05RikCBCerebellum84.94
100
2600009E05RikCTXCerebral cortex100
100
2600009E05RikHIPHippocampal region100
100
2600009E05RikHPFHippocampal formation100
100
2600009E05RikHYHypothalamus100
100
2600009E05RikLSXLateral septal complex100
100
2600009E05RikMBMidbrain100
100
2600009E05RikMYMedulla100
100
2600009E05RikOLFOlfactory bulb100
100
2600009E05RikPPons100
100
2600009E05RikPALPallidum100
100
2600009E05RikRHPRetrohippocampal region100
100
2600009E05RiksAMYStriatum-like amygdalar nuclei100
100
2600009E05RikSTRStriatum100
100
2600009E05RikSTRdStriatum dorsal region100
100
2600009E05RikSTRvStriatum ventral region100
100
2600009E05RikTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DDRGK_HUMAN_267 17 267 283 FIYITPEELAAVANFIR PRIDE
DDRGK_HUMAN_286 28 286 313 GRVSIAELAQASNSLIAWGRESPAQAPA PRIDE
PAp00032106 19 28 46 AASAGQEPLHNEELAGAGR 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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