AutismKB 2.0

Annotation Detail for NCAPH


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Basic Information Top
Gene Symbol:NCAPH ( BRRN1,CAP-H,HCAP-H )
Gene Full Name: non-SMC condensin I complex, subunit H
Band: 2q11.2
Quick LinksEntrez ID:23397; OMIM: 602332; Uniprot ID:CND2_HUMAN; ENSEMBL ID: ENSG00000121152; HGNC ID: 1112
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 body3 / 7076142
blastocyst10 / 62319160
fetus23 / 56401240
neonate4 / 31097128
infant6 / 23620254
juvenile6 / 55556107
adult57 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor34 / 263845128
glioma5 / 10688346
head and neck tumor6 / 13630244
kidney tumor5 / 6895972
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal94 / 336030727
ovarian tumor2 / 7668226
pancreatic tumor50 / 104616477
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone5 / 7165569
bone marrow3 / 4880161
brain45 / 110098940
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus2 / 2020998
eye7 / 21105433
heart1 / 8962611
intestine10 / 23447242
kidney5 / 21177723
larynx1 / 2414541
liver6 / 20774328
lung13 / 33697438
lymph0 / 442700 
lymph node10 / 91610109
mammary gland6 / 15327139
mouth5 / 6705274
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas50 / 214812232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate0 / 1893450 
salivary gland0 / 201550 
skin10 / 21057447
spleen1 / 5395218
stomach1 / 9661910
testis41 / 330442124
thymus8 / 8113198
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212949_at
Cell line Expression level Expression bar
721_B_lymphoblasts77.5
Adipocyte3.8
AdrenalCortex3.9
Adrenalgland3.2
Amygdala4.1
Appendix3.85
AtrioventricularNode2.8
BDCA4+_DentriticCells4.3
Bonemarrow4.1
BronchialEpithelialCells3.85
CD105+_Endothelial33.8
CD14+_Monocytes4.1
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid4.9
CD34+13.25
CD4+_Tcells4.2
CD56+_NKCells4.6
CD71+_EarlyErythroid46.7
CD8+_Tcells3.7
CardiacMyocytes5.1
Caudatenucleus3.4
Cerebellum3.1
CerebellumPeduncles4.35
CiliaryGanglion2.65
CingulateCortex3.95
Colorectaladenocarcinoma4.2
DorsalRootGanglion2.85
FetalThyroid3.85
Fetalbrain3.85
Fetalliver3.5
Fetallung3.25
GlobusPallidus2.8
Heart4.85
Hypothalamus4.25
Kidney3.05
Leukemia_chronicMyelogenousK-5624.35
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)7.5
Liver5
Lung4.25
Lymphnode3.3
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)5.3
MedullaOblongata3.6
OccipitalLobe3.45
OlfactoryBulb3
Ovary2.55
Pancreas3.1
PancreaticIslet4.1
ParietalLobe4.05
Pituitary4.5
Placenta4
Pons3.6
PrefrontalCortex4.85
Prostate4.55
Salivarygland3.05
SkeletalMuscle4.4
Skin2.85
SmoothMuscle4.4
Spinalcord4.15
SubthalamicNucleus3.4
SuperiorCervicalGanglion4.35
TemporalLobe3.5
Testis29.15
TestisGermCell7.55
TestisIntersitial8.75
TestisLeydigCell5.3
TestisSeminiferousTubule7.3
Thalamus3.9
Thymus3.25
Thyroid4.85
Tongue3.85
Tonsil3.75
Trachea3.2
TrigeminalGanglion5.2
Uterus3.2
UterusCorpus3.4
WholeBlood4.3
Wholebrain3.35
colon3.85
pineal_day4.8
pineal_night4.66
retina4.65
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10411_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
Amygdala2.12 ± 1.28
Basal Forebrain1.39 ± 0.25
Basal Part of Pons1.39 ± 0.56
Cerebellar Cortex1.61 ± 0.86
Cerebellar Nuclei1.99 ± 0.64
Claustrum2.71 ± 0.94
Epithalamus0.91 ± 0.84
Frontal Lobe1.49 ± 0.84
Globus Pallidus2.28 ± 0.83
Hypothalamus1.96 ± 1.12
Insula1.62 ± 0.86
Limbic Lobe1.71 ± 0.9
Mesencephalon1.8 ± 0.85
Myelencephalon1.67 ± 0.75
Occipital Lobe1.79 ± 0.78
Parietal Lobe1.71 ± 0.98
Pontine Tegmentum1.8 ± 0.91
Striatum1.72 ± 0.79
Subthalamus1.58 ± 0.87
Temporal Lobe1.63 ± 0.88
Thalamus1.56 ± 0.84
White Matter1.97 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Brrn1CBCerebellum5.43
11.74
Brrn1CTXCerebral cortex15.6
13.91
Brrn1HIPHippocampal region8.08
9.49
Brrn1HPFHippocampal formation6.82
7.23
Brrn1HYHypothalamus7.22
6.87
Brrn1LSXLateral septal complex0.88
0.64
Brrn1MBMidbrain10.39
12.37
Brrn1MYMedulla11.23
12.6
Brrn1OLFOlfactory bulb13.34
13.07
Brrn1PPons11.12
13.56
Brrn1PALPallidum18.51
18.71
Brrn1RHPRetrohippocampal region4.68
4.01
Brrn1sAMYStriatum-like amygdalar nuclei13.49
11.93
Brrn1STRStriatum12.15
11.12
Brrn1STRdStriatum dorsal region12.43
12.39
Brrn1STRvStriatum ventral region12.65
8.97
Brrn1THThalamus26.29
30.39
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CND2_HUMAN_186 24 186 209 DAPSLEEVEGHVADGSATEMGTTK PRIDE
CND2_HUMAN_2 19 2 20 GPPGPALPATMNNSSSETR PRIDE
CND2_HUMAN_222 16 222 237 TIEQNINNLNVSEADR PRIDE
CND2_HUMAN_314 29 314 342 QICPSLAGFQFTQWDSETHNESVSALVDK PRIDE
CND2_HUMAN_33 8 33 40 VFPMPLPR PRIDE
CND2_HUMAN_41 22 41 62 KAPLNIPGTPVLEDFPQNDDEK PRIDE
CND2_HUMAN_598 30 598 627 TAQQNGDTPEAQGLDITTYGESNLVAEPQK PRIDE
CND2_HUMAN_72 12 72 83 VFDLQFSTDSPR PRIDE
CND2_HUMAN_92 10 92 101 SIDISATIPK PRIDE
PAp00002597 15 102 116 FTNTQITEHYSTCIK 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