AutismKB 2.0

Annotation Detail for SMC6


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Basic Information Top
Gene Symbol:SMC6 ( FLJ22116,FLJ35534,SMC-6,SMC6L1,hSMC6 )
Gene Full Name: structural maintenance of chromosomes 6
Band: 2p24.2
Quick LinksEntrez ID:79677; OMIM: 609387; Uniprot ID:SMC6_HUMAN; ENSEMBL ID: ENSG00000163029; HGNC ID: 20466
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 body6 / 7076184
blastocyst5 / 6231980
fetus29 / 56401251
neonate1 / 3109732
infant0 / 236200 
juvenile4 / 5555671
adult57 / 193912129
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) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor7 / 9635972
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal121 / 336030736
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder2 / 2975767
blood1 / 1234788
bone8 / 71655111
bone marrow4 / 4880181
brain17 / 110098915
cervix2 / 4817141
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine5 / 23447221
kidney4 / 21177718
larynx0 / 241450 
liver17 / 20774381
lung4 / 33697411
lymph0 / 442700 
lymph node15 / 91610163
mammary gland8 / 15327152
mouth4 / 6705259
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta7 / 28082524
prostate5 / 18934526
salivary gland0 / 201550 
skin4 / 21057418
spleen3 / 5395255
stomach7 / 9661972
testis26 / 33044278
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218781_at
Cell line Expression level Expression bar
721_B_lymphoblasts84.3
Adipocyte6.55
AdrenalCortex6.75
Adrenalgland5.5
Amygdala6.55
Appendix6.55
AtrioventricularNode4.9
BDCA4+_DentriticCells141.1
Bonemarrow6.4
BronchialEpithelialCells14.35
CD105+_Endothelial21
CD14+_Monocytes8.15
CD19+_BCells(neg._sel.)66.05
CD33+_Myeloid9.35
CD34+33.15
CD4+_Tcells7.75
CD56+_NKCells11.6
CD71+_EarlyErythroid14.2
CD8+_Tcells10.9
CardiacMyocytes8.3
Caudatenucleus5.8
Cerebellum5.2
CerebellumPeduncles7.45
CiliaryGanglion4.55
CingulateCortex6.7
Colorectaladenocarcinoma6.5
DorsalRootGanglion4.9
FetalThyroid6.35
Fetalbrain6.65
Fetalliver5.65
Fetallung5.6
GlobusPallidus6.95
Heart8.3
Hypothalamus8.65
Kidney5.25
Leukemia_chronicMyelogenousK-56227.25
Leukemia_promyelocytic-HL-605.8
Leukemialymphoblastic(MOLT-4)5.95
Liver8.85
Lung6.75
Lymphnode10.8
Lymphoma_burkitts(Daudi)16.45
Lymphoma_burkitts(Raji)9.75
MedullaOblongata6.05
OccipitalLobe5.85
OlfactoryBulb5.2
Ovary4.35
Pancreas5.3
PancreaticIslet7
ParietalLobe6.85
Pituitary7.9
Placenta6.65
Pons6.25
PrefrontalCortex8.3
Prostate7.45
Salivarygland5.2
SkeletalMuscle8.15
Skin4.95
SmoothMuscle13.95
Spinalcord6.8
SubthalamicNucleus6
SuperiorCervicalGanglion7.3
TemporalLobe6
Testis5.6
TestisGermCell38.2
TestisIntersitial56.05
TestisLeydigCell36.75
TestisSeminiferousTubule22.5
Thalamus6.65
Thymus4.75
Thyroid7.95
Tongue6.8
Tonsil8.65
Trachea5.3
TrigeminalGanglion6.4
Uterus5.45
UterusCorpus5.75
WholeBlood6.9
Wholebrain5.2
colon6.6
pineal_day8.86
pineal_night7.88
retina8.075
small_intestine6.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P209962
  • 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
Amygdala7.06 ± 0.37
Basal Forebrain7.18 ± 0.17
Basal Part of Pons6.99 ± 0.14
Cerebellar Cortex7.31 ± 0.16
Cerebellar Nuclei7.03 ± 0.23
Claustrum7.26 ± 0.37
Epithalamus7.33 ± 0.37
Frontal Lobe7.02 ± 0.24
Globus Pallidus7.38 ± 0.2
Hypothalamus7.23 ± 0.23
Insula7.09 ± 0.27
Limbic Lobe7.21 ± 0.39
Mesencephalon7.14 ± 0.32
Myelencephalon7.08 ± 0.29
Occipital Lobe7.3 ± 0.24
Parietal Lobe7.01 ± 0.23
Pontine Tegmentum7.08 ± 0.31
Striatum7.07 ± 0.25
Subthalamus7.15 ± 0.17
Temporal Lobe7.14 ± 0.2
Thalamus6.9 ± 0.27
White Matter8.11 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smc6CBCerebellum29.48
38.94
Smc6CTXCerebral cortex27.78
18.15
Smc6HIPHippocampal region18.48
15.79
Smc6HPFHippocampal formation18.82
14.54
Smc6HYHypothalamus13.77
9.81
Smc6LSXLateral septal complex29.52
20.12
Smc6MBMidbrain15.31
13.61
Smc6MYMedulla22.71
23.23
Smc6OLFOlfactory bulb27.82
22.04
Smc6PPons18.16
16.7
Smc6PALPallidum14.84
11.43
Smc6RHPRetrohippocampal region19.59
12.91
Smc6sAMYStriatum-like amygdalar nuclei6.98
5.13
Smc6STRStriatum14.16
9.38
Smc6STRdStriatum dorsal region12.37
8.39
Smc6STRvStriatum ventral region20.38
12.03
Smc6THThalamus13.52
9.88
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00520170 17 480 496 FGPNVPALLEAIDDAYR 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