AutismKB 2.0

Annotation Detail for NCAPH2


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Basic Information Top
Gene Symbol:NCAPH2 ( CAPH2,MGC15858,MGC18000,MGC2455,MGC4133,MGC5305,MGC8640 )
Gene Full Name: non-SMC condensin II complex, subunit H2
Band: 22q13.33
Quick LinksEntrez ID:29781; OMIM: 611230; Uniprot ID:CNDH2_HUMAN; ENSEMBL ID: ENSG00000025770; HGNC ID: 25071
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 body9 / 70761127
blastocyst5 / 6231980
fetus44 / 56401278
neonate0 / 310970 
infant0 / 236200 
juvenile7 / 55556125
adult113 / 193912158
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor4 / 34366116
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor13 / 119369108
germ cell tumor21 / 26384579
glioma22 / 106883205
head and neck tumor7 / 13630251
kidney tumor7 / 68959101
leukemia11 / 95842114
liver tumor23 / 96359238
lung tumor19 / 103127184
lymphoma24 / 71755334
non-neoplasia2 / 9725020
normal188 / 336030755
ovarian tumor2 / 7668226
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS62 / 125680493
prostate cancer2 / 10268019
retinoblastoma7 / 46356151
skin tumor33 / 124949264
soft tissue/muscle tissue tumor25 / 125191199
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites6 / 40015149
bladder2 / 2975767
blood13 / 123478105
bone5 / 7165569
bone marrow1 / 4880120
brain73 / 110098966
cervix8 / 48171166
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus1 / 2020949
eye36 / 211054170
heart1 / 8962611
intestine13 / 23447255
kidney7 / 21177733
larynx0 / 241450 
liver25 / 207743120
lung27 / 33697480
lymph3 / 4427067
lymph node3 / 9161032
mammary gland7 / 15327145
mouth3 / 6705244
muscle9 / 10771583
nerve3 / 15768190
ovary7 / 10205168
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta19 / 28082567
prostate6 / 18934531
salivary gland3 / 20155148
skin33 / 210574156
spleen1 / 5395218
stomach5 / 9661951
testis14 / 33044242
thymus0 / 811310 
thyroid2 / 4747342
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus24 / 232878103
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209718_at
Cell line Expression level Expression bar
721_B_lymphoblasts47.45
Adipocyte41.8
AdrenalCortex45.8
Adrenalgland33.2
Amygdala33.75
Appendix30.8
AtrioventricularNode65.9
BDCA4+_DentriticCells43.3
Bonemarrow39.3
BronchialEpithelialCells16.2
CD105+_Endothelial39
CD14+_Monocytes38.6
CD19+_BCells(neg._sel.)51.75
CD33+_Myeloid45.65
CD34+60.7
CD4+_Tcells64.45
CD56+_NKCells44.9
CD71+_EarlyErythroid106.4
CD8+_Tcells45.6
CardiacMyocytes35.45
Caudatenucleus35.9
Cerebellum31.05
CerebellumPeduncles65.85
CiliaryGanglion39.3
CingulateCortex52.25
Colorectaladenocarcinoma26.6
DorsalRootGanglion35.05
FetalThyroid36.9
Fetalbrain42.85
Fetalliver28.3
Fetallung24.4
GlobusPallidus60.55
Heart55.75
Hypothalamus49.95
Kidney29.15
Leukemia_chronicMyelogenousK-56237.5
Leukemia_promyelocytic-HL-6038
Leukemialymphoblastic(MOLT-4)46.95
Liver51.1
Lung43.9
Lymphnode31.95
Lymphoma_burkitts(Daudi)51.4
Lymphoma_burkitts(Raji)53.45
MedullaOblongata27.85
OccipitalLobe34.15
OlfactoryBulb30.8
Ovary28.25
Pancreas37.1
PancreaticIslet41.8
ParietalLobe40.85
Pituitary45.3
Placenta37.45
Pons35.95
PrefrontalCortex44.6
Prostate51.9
Salivarygland38
SkeletalMuscle55.95
Skin33.45
SmoothMuscle43.35
Spinalcord47.6
SubthalamicNucleus68.4
SuperiorCervicalGanglion41.25
TemporalLobe38.7
Testis29.1
TestisGermCell31.15
TestisIntersitial51.05
TestisLeydigCell36.45
TestisSeminiferousTubule52
Thalamus39.8
Thymus28.15
Thyroid31.55
Tongue37.8
Tonsil41.1
Trachea34.6
TrigeminalGanglion34.7
Uterus39.3
UterusCorpus26.85
WholeBlood26.8
Wholebrain21.8
colon18.3
pineal_day62.04
pineal_night49.72
retina42.25
small_intestine14.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5414_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
Amygdala3.68 ± 0.73
Basal Forebrain3.23 ± 0.51
Basal Part of Pons3.51 ± 0.66
Cerebellar Cortex3.85 ± 0.37
Cerebellar Nuclei3.17 ± 0.5
Claustrum3.82 ± 0.75
Epithalamus3.24 ± 0.58
Frontal Lobe3.47 ± 0.54
Globus Pallidus2.92 ± 0.53
Hypothalamus3.55 ± 0.62
Insula3.29 ± 0.49
Limbic Lobe3.4 ± 0.49
Mesencephalon3.54 ± 0.62
Myelencephalon3.41 ± 0.53
Occipital Lobe3.21 ± 0.43
Parietal Lobe3.31 ± 0.55
Pontine Tegmentum3.38 ± 0.62
Striatum2.89 ± 0.66
Subthalamus3.22 ± 0.73
Temporal Lobe3.58 ± 0.47
Thalamus3.34 ± 0.5
White Matter3.6 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D15Ertd785eCBCerebellum51.06
86.04
D15Ertd785eCTXCerebral cortex100
100
D15Ertd785eHIPHippocampal region98.37
100
D15Ertd785eHPFHippocampal formation100
100
D15Ertd785eHYHypothalamus92.79
89.65
D15Ertd785eLSXLateral septal complex66.65
66.4
D15Ertd785eMBMidbrain88.51
91.24
D15Ertd785eMYMedulla77
92.55
D15Ertd785eOLFOlfactory bulb91.41
96.66
D15Ertd785ePPons83.52
94.69
D15Ertd785ePALPallidum82.84
88.31
D15Ertd785eRHPRetrohippocampal region100
100
D15Ertd785esAMYStriatum-like amygdalar nuclei100
98.06
D15Ertd785eSTRStriatum77.13
74.09
D15Ertd785eSTRdStriatum dorsal region72.73
69.73
D15Ertd785eSTRvStriatum ventral region85.36
79.67
D15Ertd785eTHThalamus88.14
87.44
Peptide Top

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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