AutismKB 2.0

Annotation Detail for D2HGDH


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Basic Information Top
Gene Symbol:D2HGDH ( D2HGD,FLJ42195,MGC25181 )
Gene Full Name: D-2-hydroxyglutarate dehydrogenase
Band: 2q37.3
Quick LinksEntrez ID:728294; OMIM: 609186; Uniprot ID:D2HDH_HUMAN; ENSEMBL ID: ENSG00000180902; HGNC ID: 28358
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 body2 / 7076128
blastocyst3 / 6231948
fetus13 / 56401223
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult41 / 193912121
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 tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
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
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain27 / 110098924
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine6 / 23447225
kidney11 / 21177751
larynx1 / 2414541
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve5 / 15768317
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate10 / 18934552
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach0 / 966190 
testis4 / 33044212
thymus4 / 8113149
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus7 / 23287830
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_2727_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
Amygdala3.81 ± 0.66
Basal Forebrain3.6 ± 0.63
Basal Part of Pons3.66 ± 0.43
Cerebellar Cortex3.84 ± 0.45
Cerebellar Nuclei3.65 ± 0.44
Claustrum3.78 ± 0.71
Epithalamus3.94 ± 0.5
Frontal Lobe3.78 ± 0.46
Globus Pallidus4.1 ± 0.58
Hypothalamus3.31 ± 0.38
Insula3.71 ± 0.38
Limbic Lobe3.84 ± 0.55
Mesencephalon3.66 ± 0.55
Myelencephalon3.73 ± 0.55
Occipital Lobe3.78 ± 0.5
Parietal Lobe3.68 ± 0.57
Pontine Tegmentum3.71 ± 0.57
Striatum3.66 ± 0.67
Subthalamus3.85 ± 0.53
Temporal Lobe3.75 ± 0.54
Thalamus3.76 ± 0.47
White Matter4.58 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D2hgdhCBCerebellum1.64
4.46
D2hgdhCTXCerebral cortex0.34
0.63
D2hgdhHIPHippocampal region1.47
1.77
D2hgdhHPFHippocampal formation1.09
1.46
D2hgdhHYHypothalamus1.13
1.42
D2hgdhLSXLateral septal complex0.34
0.51
D2hgdhMBMidbrain0.49
1.39
D2hgdhMYMedulla0.38
0.71
D2hgdhOLFOlfactory bulb0.96
1.53
D2hgdhPPons0.72
1.95
D2hgdhPALPallidum1.91
1.98
D2hgdhRHPRetrohippocampal region0.48
1.09
D2hgdhsAMYStriatum-like amygdalar nuclei0.27
0.8
D2hgdhSTRStriatum0.44
0.66
D2hgdhSTRdStriatum dorsal region0.16
0.28
D2hgdhSTRvStriatum ventral region1.35
1.67
D2hgdhTHThalamus0.3
0.5
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00082136 17 196 212 GSCHIGGNVATNAGGLR 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