AutismKB 2.0

Annotation Detail for NSMCE2


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Basic Information Top
Gene Symbol:NSMCE2 ( C8orf36,FLJ32440,MMS21,NSE2 )
Gene Full Name: non-SMC element 2, MMS21 homolog (S. cerevisiae)
Band: 8q24.13
Quick LinksEntrez ID:286053; OMIM: NA; Uniprot ID:NSE2_HUMAN; ENSEMBL ID: ENSG00000156831; HGNC ID: 26513
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 body0 / 707610 
blastocyst0 / 623190 
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult47 / 193912124
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal66 / 336030719
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor11 / 12519187
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
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone4 / 7165555
bone marrow1 / 4880120
brain2 / 11009891
cervix1 / 4817120
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine4 / 23447217
kidney4 / 21177718
larynx0 / 241450 
liver3 / 20774314
lung9 / 33697426
lymph2 / 4427045
lymph node5 / 9161054
mammary gland4 / 15327126
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta9 / 28082532
prostate2 / 18934510
salivary gland0 / 201550 
skin8 / 21057437
spleen5 / 5395292
stomach2 / 9661920
testis7 / 33044221
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8608_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
Amygdala7.09 ± 0.3
Basal Forebrain6.94 ± 0.2
Basal Part of Pons6.97 ± 0.28
Cerebellar Cortex6.87 ± 0.16
Cerebellar Nuclei7.09 ± 0.12
Claustrum7.25 ± 0.29
Epithalamus6.61 ± 0.33
Frontal Lobe6.94 ± 0.26
Globus Pallidus7.41 ± 0.18
Hypothalamus6.82 ± 0.28
Insula6.91 ± 0.2
Limbic Lobe6.91 ± 0.26
Mesencephalon7.01 ± 0.33
Myelencephalon6.99 ± 0.27
Occipital Lobe7.04 ± 0.27
Parietal Lobe7.01 ± 0.24
Pontine Tegmentum6.99 ± 0.23
Striatum7.01 ± 0.31
Subthalamus7.08 ± 0.22
Temporal Lobe6.97 ± 0.28
Thalamus7.14 ± 0.22
White Matter7.75 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nsmce2CBCerebellum40.91
50.29
Nsmce2CTXCerebral cortex100
72.79
Nsmce2HIPHippocampal region53.01
56.54
Nsmce2HPFHippocampal formation68.99
57.02
Nsmce2HYHypothalamus53.35
29.21
Nsmce2LSXLateral septal complex43.53
18.87
Nsmce2MBMidbrain59.54
37.6
Nsmce2MYMedulla68.75
52.78
Nsmce2OLFOlfactory bulb90.27
61.12
Nsmce2PPons64.52
44.64
Nsmce2PALPallidum62.89
41.95
Nsmce2RHPRetrohippocampal region98.72
60.17
Nsmce2sAMYStriatum-like amygdalar nuclei69.03
32.97
Nsmce2STRStriatum86.92
48.26
Nsmce2STRdStriatum dorsal region91.17
52.05
Nsmce2STRvStriatum ventral region100
55.78
Nsmce2THThalamus86.81
61.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011834 13 184 196 VCGHTYEEDAIVR 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