AutismKB 2.0

Annotation Detail for SF3B1


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Basic Information Top
Gene Symbol:SF3B1 ( Hsh155,PRP10,PRPF10,SAP155,SF3b155 )
Gene Full Name: splicing factor 3b, subunit 1, 155kDa
Band: 2q33.1
Quick LinksEntrez ID:23451; OMIM: 605590; Uniprot ID:SF3B1_HUMAN; ENSEMBL ID: ENSG00000115524; HGNC ID: 10768
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
blastocyst4 / 6231964
fetus111 / 564012196
neonate4 / 31097128
infant0 / 236200 
juvenile2 / 5555635
adult289 / 1939121149
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) tumor14 / 94178148
cervical tumor3 / 3436687
chondrosarcoma21 / 82823253
colorectal tumor21 / 114246183
esophageal tumor5 / 17290289
gastrointestinal tumor33 / 119369276
germ cell tumor17 / 26384564
glioma9 / 10688384
head and neck tumor79 / 136302579
kidney tumor5 / 6895972
leukemia25 / 95842260
liver tumor17 / 96359176
lung tumor3 / 10312729
lymphoma5 / 7175569
non-neoplasia9 / 9725092
normal403 / 3360307119
ovarian tumor8 / 76682104
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer7 / 10268068
retinoblastoma4 / 4635686
skin tumor7 / 12494956
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites10 / 40015249
bladder1 / 2975733
blood16 / 123478129
bone16 / 71655223
bone marrow11 / 48801225
brain78 / 110098970
cervix4 / 4817183
connective tissue23 / 149255154
ear7 / 16212431
embryonic tissue20 / 21572292
esophagus5 / 20209247
eye20 / 21105494
heart22 / 89626245
intestine43 / 234472183
kidney32 / 211777151
larynx7 / 24145289
liver37 / 207743178
lung41 / 336974121
lymph1 / 4427022
lymph node21 / 91610229
mammary gland26 / 153271169
mouth42 / 67052626
muscle9 / 10771583
nerve0 / 157680 
ovary11 / 102051107
pancreas15 / 21481269
parathyroid1 / 2053948
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta29 / 280825103
prostate14 / 18934573
salivary gland1 / 2015549
skin39 / 210574185
spleen3 / 5395255
stomach21 / 96619217
testis6 / 33044218
thymus6 / 8113173
thyroid37 / 47473779
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus23 / 23287898
vascular15 / 51780289
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201071_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts2814.85
Adipocyte504.9
AdrenalCortex500.85
Adrenalgland198.9
Amygdala434.35
Appendix281.8
AtrioventricularNode163.6
BDCA4+_DentriticCells1902.3
Bonemarrow183.25
BronchialEpithelialCells687.35
CD105+_Endothelial1031.5
CD14+_Monocytes1268.6
CD19+_BCells(neg._sel.)2317.9
CD33+_Myeloid2026.55
CD34+2306.7
CD4+_Tcells4202.5
CD56+_NKCells2005.15
CD71+_EarlyErythroid1200.65
CD8+_Tcells3620.65
CardiacMyocytes393.4
Caudatenucleus310.7
Cerebellum66.55
CerebellumPeduncles201.15
CiliaryGanglion113.85
CingulateCortex283.55
Colorectaladenocarcinoma376
DorsalRootGanglion164.5
FetalThyroid588.2
Fetalbrain844.75
Fetalliver402.45
Fetallung1147.4
GlobusPallidus183.2
Heart8.45
Hypothalamus790.25
Kidney128.25
Leukemia_chronicMyelogenousK-562994.85
Leukemia_promyelocytic-HL-60838.95
Leukemialymphoblastic(MOLT-4)1051.6
Liver8.15
Lung75.75
Lymphnode1641.9
Lymphoma_burkitts(Daudi)1099.4
Lymphoma_burkitts(Raji)560.9
MedullaOblongata287.05
OccipitalLobe464.05
OlfactoryBulb574.4
Ovary288.1
Pancreas517.6
PancreaticIslet888.9
ParietalLobe334.95
Pituitary660.25
Placenta336.3
Pons129.25
PrefrontalCortex842.9
Prostate527.4
Salivarygland768.35
SkeletalMuscle77.85
Skin282.6
SmoothMuscle696.6
Spinalcord479.2
SubthalamicNucleus233.8
SuperiorCervicalGanglion57.6
TemporalLobe119.4
Testis170.3
TestisGermCell825.4
TestisIntersitial625.55
TestisLeydigCell569.15
TestisSeminiferousTubule505.15
Thalamus353.6
Thymus496.1
Thyroid753.1
Tongue216.25
Tonsil1281.1
Trachea354.35
TrigeminalGanglion116.75
Uterus942.65
UterusCorpus362.95
WholeBlood1736.3
Wholebrain120.6
colon664.2
pineal_day988.36
pineal_night1104.96
retina409.725
small_intestine379.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P610387
  • 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
Amygdala2.53 ± 0.97
Basal Forebrain2.09 ± 0.23
Basal Part of Pons1.83 ± 0.34
Cerebellar Cortex2.5 ± 0.5
Cerebellar Nuclei2.42 ± 0.72
Claustrum2.77 ± 0.68
Epithalamus1.81 ± 0.79
Frontal Lobe2.11 ± 0.69
Globus Pallidus2.41 ± 0.75
Hypothalamus2.12 ± 0.68
Insula1.97 ± 0.56
Limbic Lobe2.09 ± 0.63
Mesencephalon2.27 ± 0.68
Myelencephalon2.14 ± 0.64
Occipital Lobe2.12 ± 0.63
Parietal Lobe2.03 ± 0.65
Pontine Tegmentum2.21 ± 0.67
Striatum2 ± 0.69
Subthalamus2.27 ± 0.69
Temporal Lobe2.08 ± 0.66
Thalamus2.05 ± 0.58
White Matter2.36 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sf3b1CBCerebellum7.42
6.72
Sf3b1CTXCerebral cortex24.48
16.87
Sf3b1HIPHippocampal region27.84
29.14
Sf3b1HPFHippocampal formation25.07
23.03
Sf3b1HYHypothalamus2.16
1.54
Sf3b1LSXLateral septal complex11.68
7.81
Sf3b1MBMidbrain3.79
2.98
Sf3b1MYMedulla8.42
8.39
Sf3b1OLFOlfactory bulb24.44
17.07
Sf3b1PPons4.12
4.1
Sf3b1PALPallidum3.8
2.86
Sf3b1RHPRetrohippocampal region20.09
14.33
Sf3b1sAMYStriatum-like amygdalar nuclei6.32
4.17
Sf3b1STRStriatum14.74
10.11
Sf3b1STRdStriatum dorsal region14.85
10.28
Sf3b1STRvStriatum ventral region21.29
14.08
Sf3b1THThalamus6.45
4.88
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00007740 10 7 16 THEDIEAQIR Peptide Atlas
SF3B1_HUMAN_1031 11 1031 1041 VQENCIDLVGR PRIDE
SF3B1_HUMAN_1086 16 1086 1101 AIGPHDVLATLLNNLK PRIDE
SF3B1_HUMAN_1110 28 1110 1137 VCTTVAIAIVAETCSPFTVLPALMNEYR PRIDE
SF3B1_HUMAN_1239 7 1239 1245 VAIGPCR PRIDE
SF3B1_HUMAN_1246 14 1246 1259 MLQYCLQGLFHPAR PRIDE
SF3B1_HUMAN_125 8 125 132 TMIISPER PRIDE
SF3B1_HUMAN_1298 7 1298 1304 YELDYIL PRIDE
SF3B1_HUMAN_133 9 133 141 LDPFADGGK PRIDE
SF3B1_HUMAN_170 27 170 196 QQLAEKAKAGELKVVNGAAASQPPSKR PRIDE
SF3B1_HUMAN_2 15 2 16 AKIAKTHEDIEAQIR PRIDE
SF3B1_HUMAN_241 12 241 252 GSETPGATPGSK PRIDE
SF3B1_HUMAN_302 14 302 315 DTPGHGSGWAETPR PRIDE
SF3B1_HUMAN_338 20 338 357 WDETPASQMGGSTPVLTPGK PRIDE
SF3B1_HUMAN_396 18 396 413 NRPLSDEELDAMFPEGYK PRIDE
SF3B1_HUMAN_430 22 430 451 KLTATPTPLGGMTGFHMQTEDR PRIDE
SF3B1_HUMAN_431 21 431 451 LTATPTPLGGMTGFHMQTEDR PRIDE
SF3B1_HUMAN_518 7 518 524 QITDKAR PRIDE
SF3B1_HUMAN_7 10 7 16 THEDIEAQIR PRIDE
SF3B1_HUMAN_768 8 768 775 EVMLILIR PRIDE
SF3B1_HUMAN_844 9 844 852 VGAAEIISR PRIDE
SF3B1_HUMAN_949 9 949 957 QQAADLISR 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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