AutismKB 2.0

Annotation Detail for SMCR8


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Basic Information Top
Gene Symbol:SMCR8 ( FLJ34716,FLJ60657 )
Gene Full Name: Smith-Magenis syndrome chromosome region, candidate 8
Band: 17p11.2
Quick LinksEntrez ID:140775; OMIM: NA; Uniprot ID:SMCR8_HUMAN; ENSEMBL ID: ENSG00000176994; HGNC ID: 17921
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 body1 / 7076114
blastocyst1 / 6231916
fetus34 / 56401260
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult109 / 193912156
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) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor19 / 114246166
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor14 / 136302102
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor12 / 96359124
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal137 / 336030740
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer6 / 10268058
retinoblastoma6 / 46356129
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone5 / 7165569
bone marrow2 / 4880140
brain12 / 110098910
cervix3 / 4817162
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine22 / 23447293
kidney14 / 21177766
larynx1 / 2414541
liver26 / 207743125
lung10 / 33697429
lymph1 / 4427022
lymph node4 / 9161043
mammary gland14 / 15327191
mouth5 / 6705274
muscle4 / 10771537
nerve0 / 157680 
ovary4 / 10205139
pancreas3 / 21481213
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate7 / 18934536
salivary gland0 / 201550 
skin12 / 21057456
spleen5 / 5395292
stomach11 / 96619113
testis3 / 3304429
thymus3 / 8113136
thyroid10 / 47473210
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_178_PI417507815
  • 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
Amygdala2.17 ± 1.15
Basal Forebrain1.74 ± 0.52
Basal Part of Pons1.51 ± 0.92
Cerebellar Cortex2.01 ± 0.8
Cerebellar Nuclei1.94 ± 0.69
Claustrum2.48 ± 0.83
Epithalamus1.5 ± 0.71
Frontal Lobe1.59 ± 0.75
Globus Pallidus1.63 ± 0.4
Hypothalamus1.66 ± 0.79
Insula1.14 ± 0.46
Limbic Lobe1.72 ± 0.72
Mesencephalon1.76 ± 0.74
Myelencephalon1.77 ± 0.79
Occipital Lobe2.15 ± 0.91
Parietal Lobe1.79 ± 0.82
Pontine Tegmentum1.73 ± 0.7
Striatum1.64 ± 0.81
Subthalamus1.78 ± 0.67
Temporal Lobe1.7 ± 0.84
Thalamus1.66 ± 0.86
White Matter2.19 ± 0.91
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smcr8CBCerebellum32.52
55.73
Smcr8CTXCerebral cortex80.11
70.07
Smcr8HIPHippocampal region43.78
68.46
Smcr8HPFHippocampal formation52.15
64.57
Smcr8HYHypothalamus16
15.68
Smcr8LSXLateral septal complex5.29
4.15
Smcr8MBMidbrain28.94
31.63
Smcr8MYMedulla46.15
57.67
Smcr8OLFOlfactory bulb60.37
57.84
Smcr8PPons31.04
38.62
Smcr8PALPallidum29.42
36.2
Smcr8RHPRetrohippocampal region68.78
62.16
Smcr8sAMYStriatum-like amygdalar nuclei56.33
50.15
Smcr8STRStriatum32.11
27.16
Smcr8STRdStriatum dorsal region30.45
25.2
Smcr8STRvStriatum ventral region40.25
33.88
Smcr8THThalamus42.49
46.51
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00500695 29 590 618 ESDGQLVLPSTPAHTHSDEDGVVSSPPQR 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