AutismKB 2.0

Annotation Detail for NIPBL


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Basic Information Top
Gene Symbol:NIPBL ( CDLS,CDLS1,DKFZp434L1319,FLJ11203,FLJ12597,FLJ13354,FLJ13648,FLJ44854,IDN3,IDN3-B,Scc2 )
Gene Full Name: Nipped-B homolog (Drosophila)
Band: 5p13.2
Quick LinksEntrez ID:25836; OMIM: 608667; Uniprot ID:NIPBL_HUMAN; ENSEMBL ID: ENSG00000164190; HGNC ID: 28862
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 body10 / 70761141
blastocyst3 / 6231948
fetus42 / 56401274
neonate1 / 3109732
infant3 / 23620127
juvenile1 / 5555617
adult111 / 193912157
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma4 / 17475228
breast (mammary gland) tumor2 / 9417821
cervical tumor3 / 3436687
chondrosarcoma8 / 8282396
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor11 / 26384541
glioma0 / 1068830 
head and neck tumor11 / 13630280
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma4 / 7175555
non-neoplasia9 / 9725092
normal181 / 336030753
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor3 / 12494924
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites3 / 4001574
bladder2 / 2975767
blood7 / 12347856
bone8 / 71655111
bone marrow0 / 488010 
brain37 / 110098933
cervix3 / 4817162
connective tissue8 / 14925553
ear2 / 16212123
embryonic tissue20 / 21572292
esophagus1 / 2020949
eye8 / 21105437
heart5 / 8962655
intestine3 / 23447212
kidney13 / 21177761
larynx1 / 2414541
liver12 / 20774357
lung16 / 33697447
lymph2 / 4427045
lymph node7 / 9161076
mammary gland12 / 15327178
mouth10 / 67052149
muscle3 / 10771527
nerve2 / 15768126
ovary6 / 10205158
pancreas9 / 21481241
parathyroid7 / 20539340
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta16 / 28082556
prostate7 / 18934536
salivary gland0 / 201550 
skin11 / 21057452
spleen0 / 539520 
stomach4 / 9661941
testis13 / 33044239
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus27 / 232878115
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212469_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.85
Adipocyte5.15
AdrenalCortex5.35
Adrenalgland4.3
Amygdala5.35
Appendix5.15
AtrioventricularNode4
BDCA4+_DentriticCells9.4
Bonemarrow5
BronchialEpithelialCells4.75
CD105+_Endothelial6.95
CD14+_Monocytes11.2
CD19+_BCells(neg._sel.)10.15
CD33+_Myeloid13.8
CD34+16.15
CD4+_Tcells18.55
CD56+_NKCells13.1
CD71+_EarlyErythroid9
CD8+_Tcells23.7
CardiacMyocytes6.5
Caudatenucleus4.65
Cerebellum4.15
CerebellumPeduncles5.75
CiliaryGanglion3.55
CingulateCortex5.25
Colorectaladenocarcinoma5.2
DorsalRootGanglion3.95
FetalThyroid5.05
Fetalbrain5.2
Fetalliver4.45
Fetallung4.4
GlobusPallidus3.7
Heart6.5
Hypothalamus5.65
Kidney4.1
Leukemia_chronicMyelogenousK-5624.9
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4.25
Liver6.75
Lung5.6
Lymphnode4.5
Lymphoma_burkitts(Daudi)6.6
Lymphoma_burkitts(Raji)7.2
MedullaOblongata4.75
OccipitalLobe4.65
OlfactoryBulb4.15
Ovary3.45
Pancreas4.15
PancreaticIslet5.6
ParietalLobe5.35
Pituitary6.45
Placenta5.3
Pons4.95
PrefrontalCortex6.6
Prostate6.15
Salivarygland4.2
SkeletalMuscle6.2
Skin4.25
SmoothMuscle5.9
Spinalcord5.2
SubthalamicNucleus4.7
SuperiorCervicalGanglion5.85
TemporalLobe4.5
Testis4.45
TestisGermCell4.45
TestisIntersitial4.35
TestisLeydigCell5.1
TestisSeminiferousTubule4.45
Thalamus5.15
Thymus4.1
Thyroid6.6
Tongue5.05
Tonsil5.05
Trachea4.35
TrigeminalGanglion5.1
Uterus7.75
UterusCorpus4.7
WholeBlood12.55
Wholebrain4.3
colon5.2
pineal_day6.58
pineal_night6.64
retina6.25
small_intestine5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P213883
  • 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
Amygdala7.79 ± 0.12
Basal Forebrain7.99 ± 0.19
Basal Part of Pons7.48 ± 0.29
Cerebellar Cortex8.04 ± 0.14
Cerebellar Nuclei7.88 ± 0.2
Claustrum7.82 ± 0.42
Epithalamus8.24 ± 0.16
Frontal Lobe7.68 ± 0.25
Globus Pallidus8.14 ± 0.32
Hypothalamus7.61 ± 0.23
Insula7.65 ± 0.19
Limbic Lobe7.74 ± 0.3
Mesencephalon7.9 ± 0.26
Myelencephalon7.83 ± 0.31
Occipital Lobe8.13 ± 0.34
Parietal Lobe7.78 ± 0.27
Pontine Tegmentum7.87 ± 0.3
Striatum7.97 ± 0.33
Subthalamus7.69 ± 0.29
Temporal Lobe7.71 ± 0.22
Thalamus7.93 ± 0.16
White Matter8.86 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NipblCBCerebellum3.88
4.43
NipblCTXCerebral cortex4.08
2.88
NipblHIPHippocampal region3.59
3.02
NipblHPFHippocampal formation3.24
2.55
NipblHYHypothalamus1.02
0.68
NipblLSXLateral septal complex0.77
0.45
NipblMBMidbrain2.16
2.01
NipblMYMedulla8.61
9.51
NipblOLFOlfactory bulb13.16
10.37
NipblPPons5.73
5.69
NipblPALPallidum1.35
1.1
NipblRHPRetrohippocampal region2.52
1.84
NipblsAMYStriatum-like amygdalar nuclei0.95
1.1
NipblSTRStriatum1.92
1.28
NipblSTRdStriatum dorsal region1.3
0.92
NipblSTRvStriatum ventral region4.96
2.74
NipblTHThalamus1.21
0.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NIPBL_HUMAN_2649 12 2649 2660 AITSLLGGGSPK PRIDE
PAp00073484 24 2623 2646 LLMEHLDPDEEEEEGEVSASTNAR 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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