AutismKB 2.0

Annotation Detail for SF1


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Basic Information Top
Gene Symbol:SF1 ( BBP,D11S636,MBBP,ZFM1,ZNF162 )
Gene Full Name: splicing factor 1
Band: 11q13.1
Quick LinksEntrez ID:7536; OMIM: 601516; Uniprot ID:SF01_HUMAN; ENSEMBL ID: ENSG00000168066; HGNC ID: 12950
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 body24 / 70761339
blastocyst16 / 62319256
fetus96 / 564012170
neonate3 / 3109796
infant0 / 236200 
juvenile11 / 55556197
adult331 / 1939121170
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma1 / 1747557
breast (mammary gland) tumor18 / 94178191
cervical tumor5 / 34366145
chondrosarcoma14 / 82823169
colorectal tumor21 / 114246183
esophageal tumor1 / 1729057
gastrointestinal tumor14 / 119369117
germ cell tumor68 / 263845257
glioma19 / 106883177
head and neck tumor27 / 136302198
kidney tumor8 / 68959116
leukemia45 / 95842469
liver tumor17 / 96359176
lung tumor23 / 103127223
lymphoma18 / 71755250
non-neoplasia11 / 97250113
normal510 / 3360307151
ovarian tumor17 / 76682221
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer20 / 102680194
retinoblastoma15 / 46356323
skin tumor31 / 124949248
soft tissue/muscle tissue tumor26 / 125191207
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland10 / 33197301
ascites1 / 4001524
bladder7 / 29757235
blood25 / 123478202
bone11 / 71655153
bone marrow12 / 48801245
brain196 / 1100989178
cervix12 / 48171249
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue59 / 215722273
esophagus1 / 2020949
eye34 / 211054161
heart3 / 8962633
intestine40 / 234472170
kidney32 / 211777151
larynx2 / 2414582
liver25 / 207743120
lung61 / 336974181
lymph11 / 44270248
lymph node26 / 91610283
mammary gland25 / 153271163
mouth14 / 67052208
muscle7 / 10771564
nerve1 / 1576863
ovary23 / 102051225
pancreas27 / 214812125
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta53 / 280825188
prostate34 / 189345179
salivary gland5 / 20155248
skin41 / 210574194
spleen12 / 53952222
stomach10 / 96619103
testis60 / 330442181
thymus16 / 81131197
thyroid10 / 47473210
tonsil4 / 16999235
trachea9 / 52413171
umbilical cord0 / 136800 
uterus39 / 232878167
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208313_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts832.65
Adipocyte104.65
AdrenalCortex127.4
Adrenalgland124.05
Amygdala412.4
Appendix24.85
AtrioventricularNode29.55
BDCA4+_DentriticCells696.65
Bonemarrow174
BronchialEpithelialCells147.2
CD105+_Endothelial577.7
CD14+_Monocytes751.05
CD19+_BCells(neg._sel.)1312.9
CD33+_Myeloid975.05
CD34+1157.2
CD4+_Tcells1104.6
CD56+_NKCells968.9
CD71+_EarlyErythroid180.55
CD8+_Tcells908.75
CardiacMyocytes86.8
Caudatenucleus155.4
Cerebellum308.1
CerebellumPeduncles180.45
CiliaryGanglion19.55
CingulateCortex116.35
Colorectaladenocarcinoma540.6
DorsalRootGanglion85.95
FetalThyroid230.45
Fetalbrain189.55
Fetalliver90.8
Fetallung147.95
GlobusPallidus76.55
Heart262.25
Hypothalamus264.05
Kidney87.5
Leukemia_chronicMyelogenousK-562271.05
Leukemia_promyelocytic-HL-60263.1
Leukemialymphoblastic(MOLT-4)322.3
Liver376.7
Lung464.1
Lymphnode338.15
Lymphoma_burkitts(Daudi)409.25
Lymphoma_burkitts(Raji)529.25
MedullaOblongata98.8
OccipitalLobe127.05
OlfactoryBulb256.6
Ovary133.25
Pancreas87.4
PancreaticIslet183
ParietalLobe76.65
Pituitary192.4
Placenta261
Pons86.7
PrefrontalCortex377.05
Prostate535.4
Salivarygland162.75
SkeletalMuscle30.75
Skin50.65
SmoothMuscle215.65
Spinalcord254.65
SubthalamicNucleus96
SuperiorCervicalGanglion10.4
TemporalLobe48.35
Testis338
TestisGermCell280.9
TestisIntersitial239.4
TestisLeydigCell220.75
TestisSeminiferousTubule140.75
Thalamus234.2
Thymus486.65
Thyroid753.75
Tongue38.75
Tonsil207.3
Trachea148.55
TrigeminalGanglion17.2
Uterus399.5
UterusCorpus37
WholeBlood358.1
Wholebrain280.3
colon85.6
pineal_day712.54
pineal_night563.18
retina942.4
small_intestine118.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12125_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
Amygdala2.71 ± 1.03
Basal Forebrain2.44 ± 0.49
Basal Part of Pons1.98 ± 0.33
Cerebellar Cortex2.8 ± 0.53
Cerebellar Nuclei2.61 ± 0.73
Claustrum2.89 ± 0.73
Epithalamus2.71 ± 0.77
Frontal Lobe2.28 ± 0.74
Globus Pallidus2.52 ± 0.61
Hypothalamus2.66 ± 1.06
Insula2.27 ± 0.64
Limbic Lobe2.32 ± 0.67
Mesencephalon2.51 ± 0.73
Myelencephalon2.42 ± 0.63
Occipital Lobe2.5 ± 0.63
Parietal Lobe2.23 ± 0.7
Pontine Tegmentum2.53 ± 0.8
Striatum2.35 ± 0.74
Subthalamus2.31 ± 0.83
Temporal Lobe2.38 ± 0.7
Thalamus2.33 ± 0.68
White Matter4.26 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sf1CBCerebellum0
0
Sf1CTXCerebral cortex0
0
Sf1HIPHippocampal region0
0
Sf1HPFHippocampal formation0
0
Sf1HYHypothalamus0
0
Sf1LSXLateral septal complex0
0
Sf1MBMidbrain0
0
Sf1MYMedulla0
0
Sf1OLFOlfactory bulb0
0
Sf1PPons0
0
Sf1PALPallidum0
0
Sf1RHPRetrohippocampal region0
0
Sf1sAMYStriatum-like amygdalar nuclei0
0
Sf1STRStriatum0
0
Sf1STRdStriatum dorsal region0
0
Sf1STRvStriatum ventral region0
0
Sf1THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009470 12 282 293 CGGAGHIASDCK Peptide Atlas
SF01_HUMAN_109 26 109 134 HNLITEMVALNPDFKPPADYKPPATR PRIDE
SF01_HUMAN_110 26 110 135 HNLITEMVALNPDFKPPADYKPPATR PRIDE
SF01_HUMAN_135 25 135 159 VSDKVMIPQDEYPEINFVGLLIGPR PRIDE
SF01_HUMAN_192 25 192 216 DGQMLPGEDEPLHALVTANTMENVK PRIDE
SF01_HUMAN_2 16 2 17 ATGANATPLDFPSKKR PRIDE
SF01_HUMAN_227 14 227 240 QGIETPEDQNDLRK PRIDE
SF01_HUMAN_297 12 297 308 PGDPQSAQDKAR PRIDE
SF01_HUMAN_31 16 31 46 TVIPGMPTVIPPGLTR PRIDE
SF01_HUMAN_50 13 50 62 AYIVQLQIEDLTR 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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