AutismKB 2.0

Annotation Detail for SMCR7L


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Basic Information Top
Gene Symbol:SMCR7L ( FLJ20232,HSU79252,dJ1104E15.3 )
Gene Full Name: Smith-Magenis syndrome chromosome region, candidate 7-like
Band: 22q13
Quick LinksEntrez ID:54471; OMIM: NA; Uniprot ID:SMC7L_HUMAN; ENSEMBL ID: ENSG00000100335; HGNC ID:
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 body11 / 70761155
blastocyst8 / 62319128
fetus77 / 564012136
neonate2 / 3109764
infant1 / 2362042
juvenile7 / 55556125
adult137 / 193912170
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) tumor15 / 94178159
cervical tumor2 / 3436658
chondrosarcoma13 / 82823156
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor18 / 119369150
germ cell tumor40 / 263845151
glioma11 / 106883102
head and neck tumor24 / 136302176
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma10 / 71755139
non-neoplasia12 / 97250123
normal363 / 3360307108
ovarian tumor5 / 7668265
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer3 / 10268029
retinoblastoma6 / 46356129
skin tumor26 / 124949208
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites4 / 4001599
bladder3 / 29757100
blood5 / 12347840
bone4 / 7165555
bone marrow12 / 48801245
brain217 / 1100989197
cervix2 / 4817141
connective tissue29 / 149255194
ear1 / 1621261
embryonic tissue24 / 215722111
esophagus1 / 2020949
eye7 / 21105433
heart9 / 89626100
intestine12 / 23447251
kidney11 / 21177751
larynx3 / 24145124
liver3 / 20774314
lung32 / 33697494
lymph5 / 44270112
lymph node16 / 91610174
mammary gland16 / 153271104
mouth22 / 67052328
muscle8 / 10771574
nerve1 / 1576863
ovary5 / 10205148
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta22 / 28082578
prostate9 / 18934547
salivary gland1 / 2015549
skin30 / 210574142
spleen6 / 53952111
stomach13 / 96619134
testis98 / 330442296
thymus12 / 81131147
thyroid0 / 474730 
tonsil0 / 169990 
trachea14 / 52413267
umbilical cord1 / 1368073
uterus14 / 23287860
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221516_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts107.8
Adipocyte6.3
AdrenalCortex4.95
Adrenalgland4.1
Amygdala6.9
Appendix4.8
AtrioventricularNode3.5
BDCA4+_DentriticCells32.35
Bonemarrow7.55
BronchialEpithelialCells8.4
CD105+_Endothelial46.25
CD14+_Monocytes11.2
CD19+_BCells(neg._sel.)30.85
CD33+_Myeloid23.65
CD34+35.1
CD4+_Tcells15.25
CD56+_NKCells42.5
CD71+_EarlyErythroid7.05
CD8+_Tcells14.95
CardiacMyocytes5.9
Caudatenucleus4.25
Cerebellum9.45
CerebellumPeduncles5.4
CiliaryGanglion3.25
CingulateCortex5
Colorectaladenocarcinoma4.85
DorsalRootGanglion3.6
FetalThyroid4.8
Fetalbrain4.65
Fetalliver6.2
Fetallung3.9
GlobusPallidus3.5
Heart5.9
Hypothalamus5.45
Kidney4.5
Leukemia_chronicMyelogenousK-5624.65
Leukemia_promyelocytic-HL-607
Leukemialymphoblastic(MOLT-4)5.15
Liver9.05
Lung7.3
Lymphnode4.15
Lymphoma_burkitts(Daudi)6.25
Lymphoma_burkitts(Raji)6.7
MedullaOblongata4.55
OccipitalLobe4.4
OlfactoryBulb3.8
Ovary3.15
Pancreas3.95
PancreaticIslet5.95
ParietalLobe5.25
Pituitary6.05
Placenta8.25
Pons4.45
PrefrontalCortex7.8
Prostate5.7
Salivarygland3.85
SkeletalMuscle5.3
Skin3.6
SmoothMuscle6
Spinalcord5.05
SubthalamicNucleus4.2
SuperiorCervicalGanglion5.45
TemporalLobe5.4
Testis30.25
TestisGermCell9.2
TestisIntersitial9.95
TestisLeydigCell5.8
TestisSeminiferousTubule4.7
Thalamus4.9
Thymus7.35
Thyroid5.85
Tongue4.6
Tonsil4.8
Trachea4.1
TrigeminalGanglion4.7
Uterus3.8
UterusCorpus4.25
WholeBlood4.6
Wholebrain7.2
colon6.9
pineal_day10.06
pineal_night9.9
retina15.55
small_intestine12.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P333484
  • 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
Amygdala6.67 ± 0.34
Basal Forebrain6.79 ± 0.13
Basal Part of Pons6.43 ± 0.2
Cerebellar Cortex6.7 ± 0.22
Cerebellar Nuclei6.61 ± 0.28
Claustrum6.55 ± 0.37
Epithalamus6.39 ± 0.28
Frontal Lobe6.83 ± 0.22
Globus Pallidus6.47 ± 0.2
Hypothalamus6.62 ± 0.26
Insula6.89 ± 0.28
Limbic Lobe6.73 ± 0.29
Mesencephalon6.77 ± 0.26
Myelencephalon6.73 ± 0.28
Occipital Lobe6.58 ± 0.25
Parietal Lobe6.74 ± 0.29
Pontine Tegmentum6.77 ± 0.29
Striatum6.92 ± 0.26
Subthalamus6.84 ± 0.1
Temporal Lobe6.71 ± 0.25
Thalamus6.82 ± 0.24
White Matter6.41 ± 0.25
Mouse Brain ISH
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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