AutismKB 2.0

Annotation Detail for NTHL1


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Basic Information Top
Gene Symbol:NTHL1 ( NTH1,OCTS3 )
Gene Full Name: nth endonuclease III-like 1 (E. coli)
Band: 16p13.3
Quick LinksEntrez ID:4913; OMIM: 602656; Uniprot ID:NTHL1_HUMAN; ENSEMBL ID: ENSG00000065057; HGNC ID: 8028
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
blastocyst5 / 6231980
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult34 / 193912117
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor10 / 26384537
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor15 / 103127145
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal54 / 336030716
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer1 / 1026809
retinoblastoma7 / 46356151
skin tumor9 / 12494972
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone3 / 7165541
bone marrow0 / 488010 
brain24 / 110098921
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye13 / 21105461
heart0 / 896260 
intestine19 / 23447281
kidney2 / 2117779
larynx0 / 241450 
liver5 / 20774324
lung16 / 33697447
lymph2 / 4427045
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary5 / 10205148
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta6 / 28082521
prostate3 / 18934515
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach9 / 9661993
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209731_at
Cell line Expression level Expression bar
721_B_lymphoblasts43.2
Adipocyte7.9
AdrenalCortex8.3
Adrenalgland6.7
Amygdala8.35
Appendix8
AtrioventricularNode6.1
BDCA4+_DentriticCells14.4
Bonemarrow6.45
BronchialEpithelialCells7.9
CD105+_Endothelial8.2
CD14+_Monocytes8.35
CD19+_BCells(neg._sel.)20.55
CD33+_Myeloid10.4
CD34+38.4
CD4+_Tcells9.7
CD56+_NKCells13.3
CD71+_EarlyErythroid7.55
CD8+_Tcells7.8
CardiacMyocytes10.3
Caudatenucleus7.15
Cerebellum6.45
CerebellumPeduncles9.15
CiliaryGanglion5.7
CingulateCortex8.25
Colorectaladenocarcinoma8.05
DorsalRootGanglion6.2
FetalThyroid6.05
Fetalbrain7.95
Fetalliver6.9
Fetallung6.55
GlobusPallidus5.9
Heart62.85
Hypothalamus9
Kidney7.25
Leukemia_chronicMyelogenousK-5627.25
Leukemia_promyelocytic-HL-6028.05
Leukemialymphoblastic(MOLT-4)8.95
Liver124.05
Lung35.15
Lymphnode6.55
Lymphoma_burkitts(Daudi)10.35
Lymphoma_burkitts(Raji)61.05
MedullaOblongata6.6
OccipitalLobe7.15
OlfactoryBulb6.35
Ovary5.05
Pancreas6.35
PancreaticIslet8.5
ParietalLobe11.85
Pituitary9.35
Placenta7.1
Pons7.6
PrefrontalCortex13.5
Prostate13.65
Salivarygland6.35
SkeletalMuscle9.2
Skin6.25
SmoothMuscle8.05
Spinalcord8.5
SubthalamicNucleus7.25
SuperiorCervicalGanglion9.05
TemporalLobe7.3
Testis6.75
TestisGermCell6.75
TestisIntersitial6.65
TestisLeydigCell7.85
TestisSeminiferousTubule6.85
Thalamus10
Thymus11.9
Thyroid10.95
Tongue7.25
Tonsil6.85
Trachea6.35
TrigeminalGanglion7.9
Uterus6.35
UterusCorpus7.15
WholeBlood8.4
Wholebrain21.5
colon8.55
pineal_day10.06
pineal_night9.82
retina13.5
small_intestine7.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7865_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
Amygdala5.5 ± 0.42
Basal Forebrain5.66 ± 0.26
Basal Part of Pons6.37 ± 0.4
Cerebellar Cortex6.09 ± 0.51
Cerebellar Nuclei5.86 ± 0.48
Claustrum5.08 ± 0.8
Epithalamus5.71 ± 0.58
Frontal Lobe6.01 ± 0.52
Globus Pallidus5.37 ± 0.27
Hypothalamus5.9 ± 0.49
Insula5.92 ± 0.4
Limbic Lobe5.48 ± 0.55
Mesencephalon5.7 ± 0.5
Myelencephalon5.72 ± 0.62
Occipital Lobe5.19 ± 0.54
Parietal Lobe5.74 ± 0.5
Pontine Tegmentum5.72 ± 0.49
Striatum5.52 ± 0.47
Subthalamus5.88 ± 0.28
Temporal Lobe5.82 ± 0.51
Thalamus5.87 ± 0.38
White Matter5.6 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nthl1CBCerebellum0.13
0.28
Nthl1CTXCerebral cortex0.3
0.63
Nthl1HIPHippocampal region0.04
0.05
Nthl1HPFHippocampal formation0.05
0.07
Nthl1HYHypothalamus0.07
0.06
Nthl1LSXLateral septal complex0.05
0
Nthl1MBMidbrain0.05
0.06
Nthl1MYMedulla0.08
0.16
Nthl1OLFOlfactory bulb0.36
1.37
Nthl1PPons0.05
0.09
Nthl1PALPallidum0.06
0.03
Nthl1RHPRetrohippocampal region0.06
0.09
Nthl1sAMYStriatum-like amygdalar nuclei0.13
0.23
Nthl1STRStriatum0.11
0.13
Nthl1STRdStriatum dorsal region0.1
0.13
Nthl1STRvStriatum ventral region0.12
0.12
Nthl1THThalamus0.19
0.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00029398 20 107 126 DAPVDHLGTEHCYDSSAPPK 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