AutismKB 2.0

Annotation Detail for NSD1


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Basic Information Top
Gene Symbol:NSD1 ( ARA267,DKFZp666C163,FLJ10684,FLJ22263,FLJ44628,KMT3B,SOTOS,STO )
Gene Full Name: nuclear receptor binding SET domain protein 1
Band: 5q35.3
Quick LinksEntrez ID:64324; OMIM: 606681; Uniprot ID:NSD1_HUMAN; ENSEMBL ID: ENSG00000165671; HGNC ID: 14234
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 body7 / 7076198
blastocyst7 / 62319112
fetus40 / 56401270
neonate0 / 310970 
infant2 / 2362084
juvenile4 / 5555671
adult119 / 193912161
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor19 / 26384572
glioma5 / 10688346
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia14 / 95842146
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal181 / 336030753
ovarian tumor6 / 7668278
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites6 / 40015149
bladder2 / 2975767
blood10 / 12347880
bone7 / 7165597
bone marrow2 / 4880140
brain63 / 110098957
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye19 / 21105490
heart8 / 8962689
intestine16 / 23447268
kidney13 / 21177761
larynx1 / 2414541
liver5 / 20774324
lung15 / 33697444
lymph2 / 4427045
lymph node7 / 9161076
mammary gland6 / 15327139
mouth4 / 6705259
muscle2 / 10771518
nerve3 / 15768190
ovary7 / 10205168
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta4 / 28082514
prostate11 / 18934558
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach4 / 9661941
testis32 / 33044296
thymus0 / 811310 
thyroid7 / 47473147
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus27 / 232878115
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219084_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.6
Adipocyte4.3
AdrenalCortex4.5
Adrenalgland3.7
Amygdala4.65
Appendix4.75
AtrioventricularNode3.25
BDCA4+_DentriticCells5
Bonemarrow4.6
BronchialEpithelialCells4.45
CD105+_Endothelial4.5
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)4.75
CD33+_Myeloid5.7
CD34+5.6
CD4+_Tcells4.85
CD56+_NKCells5.35
CD71+_EarlyErythroid3.9
CD8+_Tcells4.55
CardiacMyocytes5.45
Caudatenucleus3.95
Cerebellum3.55
CerebellumPeduncles4.95
CiliaryGanglion3.1
CingulateCortex4.45
Colorectaladenocarcinoma4.7
DorsalRootGanglion3.35
FetalThyroid4.25
Fetalbrain5.15
Fetalliver3.75
Fetallung3.7
GlobusPallidus3.15
Heart5.55
Hypothalamus4.65
Kidney3.5
Leukemia_chronicMyelogenousK-5623.95
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.85
Liver5.7
Lung4.5
Lymphnode5
Lymphoma_burkitts(Daudi)6.85
Lymphoma_burkitts(Raji)5.55
MedullaOblongata4.05
OccipitalLobe3.95
OlfactoryBulb3.45
Ovary2.9
Pancreas3.5
PancreaticIslet4.65
ParietalLobe4.3
Pituitary5.15
Placenta4.6
Pons4.15
PrefrontalCortex5.5
Prostate5.2
Salivarygland3.45
SkeletalMuscle4.85
Skin3.3
SmoothMuscle5
Spinalcord5.45
SubthalamicNucleus3.95
SuperiorCervicalGanglion5.1
TemporalLobe3.95
Testis9.2
TestisGermCell8.85
TestisIntersitial4.9
TestisLeydigCell5
TestisSeminiferousTubule4.25
Thalamus4.45
Thymus4.05
Thyroid6.55
Tongue5.95
Tonsil4.8
Trachea4.2
TrigeminalGanglion4.35
Uterus3.7
UterusCorpus3.65
WholeBlood4.85
Wholebrain3.5
colon4.35
pineal_day5.3
pineal_night5.38
retina5.975
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P918384
  • 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
Amygdala2.92 ± 1.02
Basal Forebrain2.35 ± 0.32
Basal Part of Pons2.18 ± 0.34
Cerebellar Cortex2.8 ± 0.57
Cerebellar Nuclei2.73 ± 0.89
Claustrum3.2 ± 0.94
Epithalamus2.12 ± 0.89
Frontal Lobe2.39 ± 0.73
Globus Pallidus2.71 ± 0.74
Hypothalamus2.39 ± 0.74
Insula2.25 ± 0.58
Limbic Lobe2.47 ± 0.64
Mesencephalon2.63 ± 0.67
Myelencephalon2.52 ± 0.68
Occipital Lobe2.6 ± 0.89
Parietal Lobe2.59 ± 0.78
Pontine Tegmentum2.59 ± 0.82
Striatum2.47 ± 0.74
Subthalamus2.58 ± 0.73
Temporal Lobe2.34 ± 0.67
Thalamus2.46 ± 0.61
White Matter3.09 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nsd1CBCerebellum22.5
26.12
Nsd1CTXCerebral cortex33.39
25.68
Nsd1HPFHippocampal formation37.77
37.73
Nsd1LSXLateral septal complex9.39
7.53
Nsd1MBMidbrain6.8
6.47
Nsd1MYMedulla22.32
23.98
Nsd1PALPallidum9.74
8.69
Nsd1RHPRetrohippocampal region45.47
36.46
Nsd1sAMYStriatum-like amygdalar nuclei19.1
13.75
Nsd1STRdStriatum dorsal region12.78
10.27
Nsd1THThalamus13.66
11.09
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NSD1_HUMAN_2 9 2 10 DQTCELPRR PRIDE

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