AutismKB 2.0

Annotation Detail for SDR39U1


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Basic Information Top
Gene Symbol:SDR39U1 ( C14orf124,HCDI )
Gene Full Name: short chain dehydrogenase/reductase family 39U, member 1
Band: 14q12
Quick LinksEntrez ID:56948; OMIM: NA; Uniprot ID:D39U1_HUMAN; ENSEMBL ID: ENSG00000100445; HGNC ID: 20275
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 body5 / 7076170
blastocyst4 / 6231964
fetus41 / 56401272
neonate1 / 3109732
infant1 / 2362042
juvenile10 / 55556179
adult173 / 193912189
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) tumor3 / 9417831
cervical tumor5 / 34366145
chondrosarcoma6 / 8282372
colorectal tumor12 / 114246105
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor11 / 26384541
glioma7 / 10688365
head and neck tumor6 / 13630244
kidney tumor4 / 6895958
leukemia19 / 95842198
liver tumor27 / 96359280
lung tumor3 / 10312729
lymphoma8 / 71755111
non-neoplasia3 / 9725030
normal226 / 336030767
ovarian tumor0 / 766820 
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer12 / 102680116
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites4 / 4001599
bladder1 / 2975733
blood20 / 123478161
bone7 / 7165597
bone marrow1 / 4880120
brain40 / 110098936
cervix11 / 48171228
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus2 / 2020998
eye30 / 211054142
heart10 / 89626111
intestine17 / 23447272
kidney12 / 21177756
larynx1 / 2414541
liver27 / 207743129
lung22 / 33697465
lymph4 / 4427090
lymph node7 / 9161076
mammary gland8 / 15327152
mouth1 / 6705214
muscle2 / 10771518
nerve3 / 15768190
ovary5 / 10205148
pancreas21 / 21481297
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta21 / 28082574
prostate20 / 189345105
salivary gland1 / 2015549
skin7 / 21057433
spleen1 / 5395218
stomach1 / 9661910
testis18 / 33044254
thymus0 / 811310 
thyroid2 / 4747342
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord1 / 1368073
uterus18 / 23287877
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213398_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts189.65
Adipocyte44.5
AdrenalCortex54.1
Adrenalgland97.6
Amygdala72.4
Appendix30.3
AtrioventricularNode8.8
BDCA4+_DentriticCells277.35
Bonemarrow35.15
BronchialEpithelialCells58.55
CD105+_Endothelial33.25
CD14+_Monocytes104.05
CD19+_BCells(neg._sel.)250
CD33+_Myeloid72.45
CD34+130.8
CD4+_Tcells492.3
CD56+_NKCells129.45
CD71+_EarlyErythroid29
CD8+_Tcells553.55
CardiacMyocytes28.75
Caudatenucleus97.4
Cerebellum105.7
CerebellumPeduncles167.55
CiliaryGanglion31.65
CingulateCortex80.15
Colorectaladenocarcinoma71.7
DorsalRootGanglion17.5
FetalThyroid241.75
Fetalbrain74.5
Fetalliver35.15
Fetallung77.1
GlobusPallidus36.2
Heart280.15
Hypothalamus150.45
Kidney83.5
Leukemia_chronicMyelogenousK-56249.3
Leukemia_promyelocytic-HL-60391.65
Leukemialymphoblastic(MOLT-4)201
Liver55
Lung174.95
Lymphnode187.1
Lymphoma_burkitts(Daudi)253.65
Lymphoma_burkitts(Raji)272.5
MedullaOblongata58.05
OccipitalLobe64.75
OlfactoryBulb96.35
Ovary39.1
Pancreas52.95
PancreaticIslet127.8
ParietalLobe61.5
Pituitary142.45
Placenta56.9
Pons35.1
PrefrontalCortex92.35
Prostate129.45
Salivarygland36.65
SkeletalMuscle25.95
Skin18.85
SmoothMuscle42.8
Spinalcord112.2
SubthalamicNucleus40.35
SuperiorCervicalGanglion18.8
TemporalLobe43.6
Testis107.65
TestisGermCell57.55
TestisIntersitial17.65
TestisLeydigCell28.55
TestisSeminiferousTubule49.05
Thalamus114.85
Thymus200.1
Thyroid232.9
Tongue38.8
Tonsil80.3
Trachea32.8
TrigeminalGanglion15.65
Uterus88.45
UterusCorpus45.35
WholeBlood28.2
Wholebrain210.3
colon29.95
pineal_day311.3
pineal_night285.74
retina160.075
small_intestine52.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8728_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
Amygdala6.31 ± 0.51
Basal Forebrain6.09 ± 0.4
Basal Part of Pons6.2 ± 0.38
Cerebellar Cortex5.98 ± 0.38
Cerebellar Nuclei6.3 ± 0.47
Claustrum6.6 ± 0.53
Epithalamus5.95 ± 0.28
Frontal Lobe6.04 ± 0.38
Globus Pallidus6.64 ± 0.31
Hypothalamus5.92 ± 0.41
Insula5.78 ± 0.37
Limbic Lobe6.29 ± 0.45
Mesencephalon6.22 ± 0.49
Myelencephalon6.15 ± 0.47
Occipital Lobe6.16 ± 0.47
Parietal Lobe6.12 ± 0.43
Pontine Tegmentum5.99 ± 0.41
Striatum6.21 ± 0.4
Subthalamus6.24 ± 0.39
Temporal Lobe6.07 ± 0.4
Thalamus6.04 ± 0.33
White Matter6.44 ± 0.27
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
D39U1_HUMAN_264 17 264 280 RAFIPLPSAVVQAVFGR PRIDE
D39U1_HUMAN_265 16 265 280 AFIPLPSAVVQAVFGR PRIDE
PAp00488432 18 272 289 TLATGYQYSFPELGAALK 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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