AutismKB 2.0

Annotation Detail for SF3B2


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Basic Information Top
Gene Symbol:SF3B2 ( Cus1,SAP145,SF3B145,SF3b1,SF3b150 )
Gene Full Name: splicing factor 3b, subunit 2, 145kDa
Band: 11q13.1
Quick LinksEntrez ID:10992; OMIM: 605591; Uniprot ID:SF3B2_HUMAN; ENSEMBL ID: ENSG00000087365; HGNC ID: 10769
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 body15 / 70761211
blastocyst22 / 62319353
fetus50 / 56401288
neonate0 / 310970 
infant1 / 2362042
juvenile5 / 5555689
adult379 / 1939121195
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma3 / 17475171
breast (mammary gland) tumor41 / 94178435
cervical tumor10 / 34366290
chondrosarcoma34 / 82823410
colorectal tumor24 / 114246210
esophageal tumor1 / 1729057
gastrointestinal tumor28 / 119369234
germ cell tumor30 / 263845113
glioma27 / 106883252
head and neck tumor41 / 136302300
kidney tumor24 / 68959348
leukemia32 / 95842333
liver tumor28 / 96359290
lung tumor35 / 103127339
lymphoma14 / 71755195
non-neoplasia9 / 9725092
normal379 / 3360307112
ovarian tumor32 / 76682417
pancreatic tumor26 / 104616248
primitive neuroectodermal tumor of the CNS28 / 125680222
prostate cancer29 / 102680282
retinoblastoma29 / 46356625
skin tumor36 / 124949288
soft tissue/muscle tissue tumor44 / 125191351
uterine tumor21 / 90257232
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites5 / 40015124
bladder3 / 29757100
blood22 / 123478178
bone19 / 71655265
bone marrow16 / 48801327
brain113 / 1100989102
cervix15 / 48171311
connective tissue14 / 14925593
ear1 / 1621261
embryonic tissue55 / 215722254
esophagus1 / 2020949
eye73 / 211054345
heart9 / 89626100
intestine42 / 234472179
kidney31 / 211777146
larynx8 / 24145331
liver44 / 207743211
lung77 / 336974228
lymph10 / 44270225
lymph node30 / 91610327
mammary gland49 / 153271319
mouth8 / 67052119
muscle20 / 107715185
nerve3 / 15768190
ovary41 / 102051401
pancreas37 / 214812172
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta32 / 280825113
prostate38 / 189345200
salivary gland0 / 201550 
skin43 / 210574204
spleen3 / 5395255
stomach14 / 96619144
testis50 / 330442151
thymus3 / 8113136
thyroid40 / 47473842
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord0 / 136800 
uterus52 / 232878223
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200619_at
Cell line Expression level Expression bar
721_B_lymphoblasts691.45
Adipocyte161.35
AdrenalCortex59.75
Adrenalgland111.5
Amygdala110.95
Appendix19.9
AtrioventricularNode7.45
BDCA4+_DentriticCells394.45
Bonemarrow159.25
BronchialEpithelialCells252.05
CD105+_Endothelial254.45
CD14+_Monocytes320.25
CD19+_BCells(neg._sel.)351.65
CD33+_Myeloid260.1
CD34+393.35
CD4+_Tcells407.35
CD56+_NKCells497.7
CD71+_EarlyErythroid248.95
CD8+_Tcells314.55
CardiacMyocytes230.9
Caudatenucleus152.25
Cerebellum116.95
CerebellumPeduncles187.6
CiliaryGanglion23.65
CingulateCortex132.8
Colorectaladenocarcinoma292.8
DorsalRootGanglion5.1
FetalThyroid248.8
Fetalbrain166.05
Fetalliver144
Fetallung188.3
GlobusPallidus38.1
Heart111.9
Hypothalamus221.95
Kidney91.75
Leukemia_chronicMyelogenousK-562253.85
Leukemia_promyelocytic-HL-60179.9
Leukemialymphoblastic(MOLT-4)323.7
Liver177.5
Lung199
Lymphnode144.95
Lymphoma_burkitts(Daudi)274.25
Lymphoma_burkitts(Raji)177.05
MedullaOblongata103.2
OccipitalLobe127.6
OlfactoryBulb132.8
Ovary99.7
Pancreas135.3
PancreaticIslet250.45
ParietalLobe115.1
Pituitary200.95
Placenta218.55
Pons76.6
PrefrontalCortex218.7
Prostate163.65
Salivarygland73.7
SkeletalMuscle59.65
Skin9.65
SmoothMuscle249.25
Spinalcord153.15
SubthalamicNucleus69.85
SuperiorCervicalGanglion9.2
TemporalLobe112.95
Testis381.1
TestisGermCell279.5
TestisIntersitial236.8
TestisLeydigCell168.85
TestisSeminiferousTubule257.85
Thalamus209.05
Thymus249.25
Thyroid152.55
Tongue49.95
Tonsil129.2
Trachea106
TrigeminalGanglion9.85
Uterus124.4
UterusCorpus77.15
WholeBlood303.85
Wholebrain158.4
colon79.6
pineal_day343.08
pineal_night293.34
retina235.025
small_intestine118.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_977_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
Amygdala7.72 ± 0.34
Basal Forebrain7.9 ± 0.23
Basal Part of Pons8.29 ± 0.27
Cerebellar Cortex8.07 ± 0.31
Cerebellar Nuclei7.87 ± 0.27
Claustrum7.54 ± 0.46
Epithalamus8.27 ± 0.37
Frontal Lobe8.01 ± 0.37
Globus Pallidus7.98 ± 0.07
Hypothalamus8.08 ± 0.29
Insula7.99 ± 0.26
Limbic Lobe7.82 ± 0.42
Mesencephalon7.79 ± 0.29
Myelencephalon7.91 ± 0.36
Occipital Lobe7.67 ± 0.34
Parietal Lobe7.9 ± 0.32
Pontine Tegmentum7.89 ± 0.28
Striatum7.96 ± 0.35
Subthalamus7.81 ± 0.26
Temporal Lobe8.03 ± 0.28
Thalamus7.93 ± 0.28
White Matter8.71 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sf3b2CBCerebellum39.54
81.01
Sf3b2CTXCerebral cortex100
100
Sf3b2HIPHippocampal region100
100
Sf3b2HPFHippocampal formation100
100
Sf3b2HYHypothalamus84.88
84.68
Sf3b2LSXLateral septal complex100
100
Sf3b2MBMidbrain89.59
100
Sf3b2MYMedulla81.93
100
Sf3b2OLFOlfactory bulb99.7
100
Sf3b2PPons76.68
100
Sf3b2PALPallidum81.34
93.08
Sf3b2RHPRetrohippocampal region100
100
Sf3b2sAMYStriatum-like amygdalar nuclei100
100
Sf3b2STRStriatum100
100
Sf3b2STRdStriatum dorsal region100
100
Sf3b2STRvStriatum ventral region100
96.06
Sf3b2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010497 31 650 680 IPGLNSPIPESCSFGYHAGGWGKPPVDETGK Peptide Atlas
SF3B2_HUMAN_126 15 126 140 LAQQQAALLMQQEER PRIDE
SF3B2_HUMAN_225 11 225 235 GPPPPPGDENR PRIDE
SF3B2_HUMAN_261 18 261 278 QEEMNSQQEEEEMETDAR PRIDE
SF3B2_HUMAN_292 11 292 302 TVSVSKKEKNR PRIDE
SF3B2_HUMAN_37 12 37 48 QTGIVLNRPVLR PRIDE
SF3B2_HUMAN_444 20 444 463 QLVARPDVVEMHDVTAQDPK PRIDE
SF3B2_HUMAN_444 29 444 472 QLVARPDVVEMHDVTAQDPKLLVHLKATR PRIDE
SF3B2_HUMAN_592 13 592 604 ISLGMPVGPNAHK PRIDE

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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