AutismKB 2.0

Annotation Detail for L2HGDH


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Basic Information Top
Gene Symbol:L2HGDH ( C14orf160,DURANIN,FLJ12618 )
Gene Full Name: L-2-hydroxyglutarate dehydrogenase
Band: 14q21.3
Quick LinksEntrez ID:79944; OMIM: 609584; Uniprot ID:L2HDH_HUMAN; ENSEMBL ID: ENSG00000087299; HGNC ID: 20499
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 body1 / 7076114
blastocyst2 / 6231932
fetus1 / 5640121
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult17 / 19391218
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal24 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor2 / 12494916
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain8 / 11009897
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye5 / 21105423
heart0 / 896260 
intestine2 / 2344728
kidney8 / 21177737
larynx0 / 241450 
liver1 / 2077434
lung7 / 33697420
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle3 / 10771527
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis5 / 33044215
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220089_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.4
Adipocyte8.5
AdrenalCortex12.7
Adrenalgland7.8
Amygdala9.2
Appendix11.45
AtrioventricularNode11.25
BDCA4+_DentriticCells8.25
Bonemarrow10.45
BronchialEpithelialCells8.3
CD105+_Endothelial8.75
CD14+_Monocytes9.25
CD19+_BCells(neg._sel.)9.05
CD33+_Myeloid10.8
CD34+10.15
CD4+_Tcells9
CD56+_NKCells9.95
CD71+_EarlyErythroid8.55
CD8+_Tcells8.15
CardiacMyocytes14.9
Caudatenucleus7.9
Cerebellum7.2
CerebellumPeduncles11.7
CiliaryGanglion8.35
CingulateCortex9.8
Colorectaladenocarcinoma12.9
DorsalRootGanglion8.2
FetalThyroid9.4
Fetalbrain8.65
Fetalliver7.9
Fetallung6.5
GlobusPallidus7.85
Heart14.05
Hypothalamus9.1
Kidney8.25
Leukemia_chronicMyelogenousK-5627.8
Leukemia_promyelocytic-HL-608.05
Leukemialymphoblastic(MOLT-4)6.95
Liver15.45
Lung9.8
Lymphnode7.2
Lymphoma_burkitts(Daudi)11.65
Lymphoma_burkitts(Raji)16.4
MedullaOblongata7.95
OccipitalLobe7.65
OlfactoryBulb6.7
Ovary7
Pancreas8
PancreaticIslet9.85
ParietalLobe9.95
Pituitary10.15
Placenta8.5
Pons9.3
PrefrontalCortex13.2
Prostate14.3
Salivarygland7.45
SkeletalMuscle12.75
Skin9.9
SmoothMuscle9.8
Spinalcord9.35
SubthalamicNucleus8.6
SuperiorCervicalGanglion24.4
TemporalLobe8.6
Testis7.65
TestisGermCell8.05
TestisIntersitial7.7
TestisLeydigCell9.3
TestisSeminiferousTubule7.6
Thalamus9.35
Thymus6.65
Thyroid10.95
Tongue12.7
Tonsil9.1
Trachea7.2
TrigeminalGanglion12.7
Uterus7.2
UterusCorpus9.8
WholeBlood9.3
Wholebrain6.7
colon10.15
pineal_day11.78
pineal_night12.56
retina12.625
small_intestine10.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9108_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
Amygdala7.08 ± 0.33
Basal Forebrain6.53 ± 0.14
Basal Part of Pons6.4 ± 0.28
Cerebellar Cortex6.72 ± 0.3
Cerebellar Nuclei6.45 ± 0.28
Claustrum6.72 ± 0.38
Epithalamus6.38 ± 0.31
Frontal Lobe6.6 ± 0.36
Globus Pallidus6.65 ± 0.33
Hypothalamus6.45 ± 0.39
Insula6.6 ± 0.32
Limbic Lobe6.89 ± 0.44
Mesencephalon6.74 ± 0.36
Myelencephalon6.73 ± 0.41
Occipital Lobe7.25 ± 0.41
Parietal Lobe6.82 ± 0.33
Pontine Tegmentum6.81 ± 0.38
Striatum7.24 ± 0.43
Subthalamus6.79 ± 0.27
Temporal Lobe6.6 ± 0.38
Thalamus6.67 ± 0.28
White Matter6.42 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
L2hgdhCBCerebellum3.16
4.39
L2hgdhCTXCerebral cortex8.85
5.53
L2hgdhHIPHippocampal region9.14
7.6
L2hgdhHPFHippocampal formation13.68
10.39
L2hgdhHYHypothalamus8.88
6.53
L2hgdhLSXLateral septal complex1.27
0.92
L2hgdhMBMidbrain3.05
2.5
L2hgdhMYMedulla11.08
10.06
L2hgdhOLFOlfactory bulb23.39
15.83
L2hgdhPPons9.82
7.9
L2hgdhPALPallidum5.37
3.92
L2hgdhRHPRetrohippocampal region21.55
14.28
L2hgdhsAMYStriatum-like amygdalar nuclei21.18
13.26
L2hgdhSTRStriatum6.22
3.84
L2hgdhSTRdStriatum dorsal region3.93
2.35
L2hgdhSTRvStriatum ventral region8.06
4.9
L2hgdhTHThalamus2.55
1.62
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00130898 20 412 431 DGNLVEDFVFDAGVGDIGNR 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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