AutismKB 2.0

Annotation Detail for SBF1


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Basic Information Top
Gene Symbol:SBF1 ( DKFZp761D0422,MGC99700,MTMR5 )
Gene Full Name: SET binding factor 1
Band: 22q13.33
Quick LinksEntrez ID:6305; OMIM: 603560; Uniprot ID:MTMR5_HUMAN; ENSEMBL ID: ENSG00000100241; HGNC ID: 10542
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
blastocyst6 / 6231996
fetus45 / 56401279
neonate0 / 310970 
infant1 / 2362042
juvenile9 / 55556161
adult161 / 193912183
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma9 / 82823108
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor15 / 26384556
glioma21 / 106883196
head and neck tumor11 / 13630280
kidney tumor2 / 6895929
leukemia19 / 95842198
liver tumor5 / 9635951
lung tumor15 / 103127145
lymphoma28 / 71755390
non-neoplasia1 / 9725010
normal326 / 336030797
ovarian tumor11 / 76682143
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer2 / 10268019
retinoblastoma6 / 46356129
skin tumor10 / 12494980
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood18 / 123478145
bone2 / 7165527
bone marrow3 / 4880161
brain84 / 110098976
cervix12 / 48171249
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye16 / 21105475
heart5 / 8962655
intestine32 / 234472136
kidney9 / 21177742
larynx2 / 2414582
liver5 / 20774324
lung34 / 336974100
lymph16 / 44270361
lymph node111 / 916101211
mammary gland6 / 15327139
mouth0 / 670520 
muscle8 / 10771574
nerve4 / 15768253
ovary16 / 102051156
pancreas32 / 214812148
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta19 / 28082567
prostate6 / 18934531
salivary gland3 / 20155148
skin15 / 21057471
spleen0 / 539520 
stomach10 / 96619103
testis20 / 33044260
thymus3 / 8113136
thyroid6 / 47473126
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 39835_at
Cell line Expression level Expression bar
721_B_lymphoblasts110.25
Adipocyte53.9
AdrenalCortex46.7
Adrenalgland36.7
Amygdala151.5
Appendix20.45
AtrioventricularNode18.65
BDCA4+_DentriticCells268.05
Bonemarrow19.9
BronchialEpithelialCells62
CD105+_Endothelial47.25
CD14+_Monocytes41.2
CD19+_BCells(neg._sel.)80.4
CD33+_Myeloid62.35
CD34+104.1
CD4+_Tcells166.6
CD56+_NKCells304.1
CD71+_EarlyErythroid22.95
CD8+_Tcells208.05
CardiacMyocytes56
Caudatenucleus67.5
Cerebellum70.35
CerebellumPeduncles80.8
CiliaryGanglion17.15
CingulateCortex54.9
Colorectaladenocarcinoma69
DorsalRootGanglion17.5
FetalThyroid84.25
Fetalbrain87.55
Fetalliver41.85
Fetallung38.5
GlobusPallidus55.25
Heart67.75
Hypothalamus55.45
Kidney37.8
Leukemia_chronicMyelogenousK-56246.05
Leukemia_promyelocytic-HL-6056.45
Leukemialymphoblastic(MOLT-4)77.65
Liver66.35
Lung63.3
Lymphnode77.5
Lymphoma_burkitts(Daudi)71.7
Lymphoma_burkitts(Raji)146.5
MedullaOblongata61.65
OccipitalLobe70.25
OlfactoryBulb37.7
Ovary28.5
Pancreas36
PancreaticIslet31.35
ParietalLobe106.75
Pituitary53.05
Placenta59.1
Pons47.45
PrefrontalCortex150.85
Prostate60.7
Salivarygland16.75
SkeletalMuscle54.4
Skin19.6
SmoothMuscle61.7
Spinalcord103.3
SubthalamicNucleus68.1
SuperiorCervicalGanglion17.75
TemporalLobe51.05
Testis195.05
TestisGermCell373.4
TestisIntersitial89.3
TestisLeydigCell73.6
TestisSeminiferousTubule97.45
Thalamus55.8
Thymus91.85
Thyroid189.1
Tongue47.05
Tonsil52.7
Trachea27.6
TrigeminalGanglion26.15
Uterus31.45
UterusCorpus36.15
WholeBlood56.25
Wholebrain92.95
colon16.65
pineal_day46.72
pineal_night46.42
retina43.875
small_intestine14.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P919727
  • 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
Amygdala4.28 ± 0.54
Basal Forebrain4.67 ± 0.39
Basal Part of Pons4.35 ± 0.32
Cerebellar Cortex4.41 ± 0.46
Cerebellar Nuclei4.55 ± 0.44
Claustrum4.83 ± 0.67
Epithalamus4.83 ± 0.63
Frontal Lobe4.36 ± 0.68
Globus Pallidus5.14 ± 0.43
Hypothalamus4.33 ± 0.8
Insula4.28 ± 0.57
Limbic Lobe4.51 ± 0.63
Mesencephalon4.64 ± 0.52
Myelencephalon4.6 ± 0.58
Occipital Lobe4.64 ± 0.6
Parietal Lobe4.46 ± 0.58
Pontine Tegmentum4.31 ± 0.62
Striatum4.62 ± 0.59
Subthalamus4.25 ± 0.67
Temporal Lobe4.39 ± 0.59
Thalamus4.47 ± 0.5
White Matter4.5 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sbf1CBCerebellum45.15
58.32
Sbf1CTXCerebral cortex100
100
Sbf1HIPHippocampal region100
100
Sbf1HPFHippocampal formation100
100
Sbf1HYHypothalamus93.22
92.72
Sbf1LSXLateral septal complex75.09
69.97
Sbf1MBMidbrain92.86
95.22
Sbf1MYMedulla83.38
88.15
Sbf1OLFOlfactory bulb100
100
Sbf1PPons76.72
77.74
Sbf1PALPallidum92.39
90.82
Sbf1RHPRetrohippocampal region100
100
Sbf1sAMYStriatum-like amygdalar nuclei100
100
Sbf1STRStriatum89.53
84.52
Sbf1STRdStriatum dorsal region86.28
80.04
Sbf1STRvStriatum ventral region94
86.38
Sbf1THThalamus99.44
97.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00042224 15 599 613 RCLAQELHLHVQQNR 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