AutismKB 2.0

Annotation Detail for SMURF1


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Basic Information Top
Gene Symbol:SMURF1 ( KIAA1625 )
Gene Full Name: SMAD specific E3 ubiquitin protein ligase 1
Band: 7q22.1
Quick LinksEntrez ID:57154; OMIM: 605568; Uniprot ID:SMUF1_HUMAN; ENSEMBL ID: ENSG00000198742; HGNC ID: 16807
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
blastocyst5 / 6231980
fetus19 / 56401233
neonate1 / 3109732
infant1 / 2362042
juvenile3 / 5555653
adult85 / 193912143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor20 / 26384575
glioma9 / 10688384
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor2 / 9635920
lung tumor9 / 10312787
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal110 / 336030732
ovarian tumor6 / 7668278
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood5 / 12347840
bone1 / 7165513
bone marrow1 / 4880120
brain30 / 110098927
cervix1 / 4817120
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue11 / 21572250
esophagus1 / 2020949
eye8 / 21105437
heart2 / 8962622
intestine9 / 23447238
kidney8 / 21177737
larynx1 / 2414541
liver4 / 20774319
lung12 / 33697435
lymph1 / 4427022
lymph node6 / 9161065
mammary gland7 / 15327145
mouth3 / 6705244
muscle1 / 1077159
nerve1 / 1576863
ovary5 / 10205148
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate3 / 18934515
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach7 / 9661972
testis34 / 330442102
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212666_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.1
Adipocyte9.9
AdrenalCortex11.25
Adrenalgland15.7
Amygdala12.05
Appendix14.6
AtrioventricularNode8.9
BDCA4+_DentriticCells11
Bonemarrow10.6
BronchialEpithelialCells29.75
CD105+_Endothelial9.75
CD14+_Monocytes11.2
CD19+_BCells(neg._sel.)11.05
CD33+_Myeloid13.65
CD34+12.8
CD4+_Tcells11.15
CD56+_NKCells11.1
CD71+_EarlyErythroid9.85
CD8+_Tcells10.45
CardiacMyocytes14.25
Caudatenucleus9.75
Cerebellum9.65
CerebellumPeduncles12.95
CiliaryGanglion7.95
CingulateCortex11
Colorectaladenocarcinoma11.3
DorsalRootGanglion8.5
FetalThyroid10.35
Fetalbrain13.75
Fetalliver9.15
Fetallung9.3
GlobusPallidus8
Heart13.85
Hypothalamus11.65
Kidney8.8
Leukemia_chronicMyelogenousK-5629.8
Leukemia_promyelocytic-HL-609.45
Leukemialymphoblastic(MOLT-4)8.5
Liver14.3
Lung23.2
Lymphnode8.85
Lymphoma_burkitts(Daudi)13.55
Lymphoma_burkitts(Raji)15.65
MedullaOblongata11.4
OccipitalLobe9.65
OlfactoryBulb8.3
Ovary7.3
Pancreas8.75
PancreaticIslet11.3
ParietalLobe11.55
Pituitary12.45
Placenta30.3
Pons10.45
PrefrontalCortex14.7
Prostate12.5
Salivarygland9.6
SkeletalMuscle14.1
Skin9.15
SmoothMuscle12.2
Spinalcord11.4
SubthalamicNucleus9.6
SuperiorCervicalGanglion13.9
TemporalLobe10
Testis123.4
TestisGermCell11.6
TestisIntersitial10.25
TestisLeydigCell11.65
TestisSeminiferousTubule16.05
Thalamus10.9
Thymus8.35
Thyroid13.45
Tongue11
Tonsil10.4
Trachea10.45
TrigeminalGanglion11.2
Uterus8.65
UterusCorpus10.05
WholeBlood11.7
Wholebrain21.5
colon10.6
pineal_day13.2
pineal_night13.92
retina16.175
small_intestine10.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P398254
  • 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
Amygdala6.05 ± 0.26
Basal Forebrain6.21 ± 0.32
Basal Part of Pons5.71 ± 0.29
Cerebellar Cortex5.61 ± 0.24
Cerebellar Nuclei6.07 ± 0.31
Claustrum6.17 ± 0.39
Epithalamus5.48 ± 0.36
Frontal Lobe5.96 ± 0.36
Globus Pallidus6.08 ± 0.24
Hypothalamus5.87 ± 0.47
Insula5.76 ± 0.28
Limbic Lobe6.06 ± 0.35
Mesencephalon6.06 ± 0.37
Myelencephalon5.96 ± 0.41
Occipital Lobe6.19 ± 0.51
Parietal Lobe6.03 ± 0.32
Pontine Tegmentum6.01 ± 0.41
Striatum6.29 ± 0.36
Subthalamus6.06 ± 0.24
Temporal Lobe5.86 ± 0.3
Thalamus5.79 ± 0.43
White Matter6.69 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smurf1CBCerebellum25.73
29.21
Smurf1CTXCerebral cortex100
91.48
Smurf1HIPHippocampal region67.53
96.84
Smurf1HPFHippocampal formation81.76
100
Smurf1HYHypothalamus97.59
92.14
Smurf1LSXLateral septal complex47.33
34.85
Smurf1MBMidbrain64.9
60.08
Smurf1MYMedulla92.05
100
Smurf1OLFOlfactory bulb80.69
69.59
Smurf1PPons90.58
100
Smurf1PALPallidum76.23
74.81
Smurf1RHPRetrohippocampal region100
100
Smurf1sAMYStriatum-like amygdalar nuclei84.44
67.45
Smurf1STRStriatum100
82.6
Smurf1STRdStriatum dorsal region100
81.62
Smurf1STRvStriatum ventral region100
100
Smurf1THThalamus76.66
69.68
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00028982 7 722 728 AHTCFNR 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