AutismKB 2.0

Annotation Detail for SREBF2


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Basic Information Top
Gene Symbol:SREBF2 ( SREBP2,bHLHd2 )
Gene Full Name: sterol regulatory element binding transcription factor 2
Band: 22q13.2
Quick LinksEntrez ID:6721; OMIM: 600481; Uniprot ID:SRBP2_HUMAN; ENSEMBL ID: ENSG00000198911; HGNC ID: 11290
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 body14 / 70761197
blastocyst16 / 62319256
fetus58 / 564012102
neonate1 / 3109732
infant0 / 236200 
juvenile4 / 5555671
adult263 / 1939121135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor7 / 34366203
chondrosarcoma7 / 8282384
colorectal tumor22 / 114246192
esophageal tumor2 / 17290115
gastrointestinal tumor17 / 119369142
germ cell tumor41 / 263845155
glioma31 / 106883290
head and neck tumor69 / 136302506
kidney tumor14 / 68959203
leukemia15 / 95842156
liver tumor7 / 9635972
lung tumor7 / 10312767
lymphoma42 / 71755585
non-neoplasia5 / 9725051
normal322 / 336030795
ovarian tumor7 / 7668291
pancreatic tumor25 / 104616238
primitive neuroectodermal tumor of the CNS53 / 125680421
prostate cancer17 / 102680165
retinoblastoma9 / 46356194
skin tumor59 / 124949472
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites5 / 40015124
bladder0 / 297570 
blood17 / 123478137
bone6 / 7165583
bone marrow4 / 4880181
brain143 / 1100989129
cervix7 / 48171145
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue41 / 215722190
esophagus2 / 2020998
eye34 / 211054161
heart19 / 89626211
intestine43 / 234472183
kidney18 / 21177784
larynx4 / 24145165
liver15 / 20774372
lung31 / 33697491
lymph27 / 44270609
lymph node38 / 91610414
mammary gland8 / 15327152
mouth2 / 6705229
muscle2 / 10771518
nerve3 / 15768190
ovary20 / 102051195
pancreas33 / 214812153
parathyroid2 / 2053997
pharynx59 / 413281427
pituitary gland0 / 165850 
placenta31 / 280825110
prostate25 / 189345132
salivary gland2 / 2015599
skin67 / 210574318
spleen3 / 5395255
stomach4 / 9661941
testis12 / 33044236
thymus4 / 8113149
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus17 / 23287872
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201247_at
Cell line Expression level Expression bar
721_B_lymphoblasts340.55
Adipocyte96.75
AdrenalCortex204.9
Adrenalgland115.35
Amygdala144.65
Appendix28.4
AtrioventricularNode99.65
BDCA4+_DentriticCells182.65
Bonemarrow70.8
BronchialEpithelialCells110.4
CD105+_Endothelial81.45
CD14+_Monocytes72.1
CD19+_BCells(neg._sel.)202.2
CD33+_Myeloid143.6
CD34+147.75
CD4+_Tcells101.95
CD56+_NKCells125.4
CD71+_EarlyErythroid80.5
CD8+_Tcells94.05
CardiacMyocytes45.6
Caudatenucleus103.5
Cerebellum168.8
CerebellumPeduncles203.3
CiliaryGanglion83.2
CingulateCortex178.1
Colorectaladenocarcinoma106.9
DorsalRootGanglion87.45
FetalThyroid56.3
Fetalbrain171.7
Fetalliver60.9
Fetallung67.3
GlobusPallidus146.95
Heart81.65
Hypothalamus115.55
Kidney56.8
Leukemia_chronicMyelogenousK-562143.15
Leukemia_promyelocytic-HL-60140.9
Leukemialymphoblastic(MOLT-4)170.95
Liver85.65
Lung117.2
Lymphnode70.5
Lymphoma_burkitts(Daudi)180
Lymphoma_burkitts(Raji)310.2
MedullaOblongata134.3
OccipitalLobe136.8
OlfactoryBulb109.2
Ovary57.1
Pancreas69.55
PancreaticIslet76.25
ParietalLobe134.75
Pituitary106.2
Placenta60.9
Pons143.75
PrefrontalCortex228.1
Prostate132.75
Salivarygland61
SkeletalMuscle135.5
Skin80.3
SmoothMuscle95.1
Spinalcord123.05
SubthalamicNucleus133.3
SuperiorCervicalGanglion108.4
TemporalLobe120.8
Testis60.8
TestisGermCell80.15
TestisIntersitial61.6
TestisLeydigCell81.5
TestisSeminiferousTubule77.85
Thalamus162.25
Thymus66.1
Thyroid81.75
Tongue97.9
Tonsil116.35
Trachea63.15
TrigeminalGanglion104.9
Uterus71.95
UterusCorpus48.35
WholeBlood40.45
Wholebrain185.45
colon46.1
pineal_day255.48
pineal_night249.02
retina198.85
small_intestine80.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12735_PI416261804
  • 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
Amygdala5.45 ± 0.48
Basal Forebrain4.76 ± 0.32
Basal Part of Pons4.97 ± 0.4
Cerebellar Cortex5.02 ± 0.38
Cerebellar Nuclei4.4 ± 0.55
Claustrum5.78 ± 0.72
Epithalamus4.26 ± 0.42
Frontal Lobe4.74 ± 0.51
Globus Pallidus4.11 ± 0.7
Hypothalamus4.53 ± 0.72
Insula4.91 ± 0.47
Limbic Lobe5.2 ± 0.52
Mesencephalon4.79 ± 0.53
Myelencephalon4.87 ± 0.6
Occipital Lobe5.22 ± 0.5
Parietal Lobe4.91 ± 0.56
Pontine Tegmentum4.86 ± 0.51
Striatum4.67 ± 0.55
Subthalamus4.73 ± 0.36
Temporal Lobe4.92 ± 0.49
Thalamus4.76 ± 0.54
White Matter5.04 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Srebf2CBCerebellum8.76
10.76
Srebf2CTXCerebral cortex61.81
49.37
Srebf2HIPHippocampal region26.37
36.64
Srebf2HPFHippocampal formation36.08
40.12
Srebf2HYHypothalamus17.09
14.65
Srebf2LSXLateral septal complex3.34
2.75
Srebf2MBMidbrain17.36
16.27
Srebf2MYMedulla17.74
19.33
Srebf2OLFOlfactory bulb49.17
42.78
Srebf2PPons15.31
15.96
Srebf2PALPallidum16.05
16.28
Srebf2RHPRetrohippocampal region52.4
45.91
Srebf2sAMYStriatum-like amygdalar nuclei15.1
11.69
Srebf2STRStriatum25.86
20.69
Srebf2STRdStriatum dorsal region30.11
24.55
Srebf2STRvStriatum ventral region28.94
21.59
Srebf2THThalamus22.38
19.78
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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