AutismKB 2.0

Annotation Detail for SFPQ


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Basic Information Top
Gene Symbol:SFPQ ( POMP100,PSF )
Gene Full Name: splicing factor proline/glutamine-rich
Band: 1p34.3
Quick LinksEntrez ID:6421; OMIM: 605199; Uniprot ID:SFPQ_HUMAN; ENSEMBL ID: ENSG00000116560; HGNC ID: 10774
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 body19 / 70761268
blastocyst25 / 62319401
fetus136 / 564012241
neonate0 / 310970 
infant1 / 2362042
juvenile11 / 55556197
adult403 / 1939121207
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor18 / 94178191
cervical tumor3 / 3436687
chondrosarcoma12 / 82823144
colorectal tumor20 / 114246175
esophageal tumor1 / 1729057
gastrointestinal tumor32 / 119369268
germ cell tumor45 / 263845170
glioma10 / 10688393
head and neck tumor42 / 136302308
kidney tumor14 / 68959203
leukemia28 / 95842292
liver tumor8 / 9635983
lung tumor24 / 103127232
lymphoma15 / 71755209
non-neoplasia8 / 9725082
normal596 / 3360307177
ovarian tumor11 / 76682143
pancreatic tumor46 / 104616439
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer40 / 102680389
retinoblastoma13 / 46356280
skin tumor28 / 124949224
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor23 / 90257254
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland8 / 33197240
ascites10 / 40015249
bladder6 / 29757201
blood29 / 123478234
bone9 / 71655125
bone marrow7 / 48801143
brain106 / 110098996
cervix3 / 4817162
connective tissue15 / 149255100
ear6 / 16212370
embryonic tissue76 / 215722352
esophagus1 / 2020949
eye37 / 211054175
heart27 / 89626301
intestine37 / 234472157
kidney37 / 211777174
larynx16 / 24145662
liver28 / 207743134
lung76 / 336974225
lymph6 / 44270135
lymph node35 / 91610382
mammary gland43 / 153271280
mouth2 / 6705229
muscle9 / 10771583
nerve6 / 15768380
ovary14 / 102051137
pancreas69 / 214812321
parathyroid2 / 2053997
pharynx19 / 41328459
pituitary gland1 / 1658560
placenta44 / 280825156
prostate51 / 189345269
salivary gland4 / 20155198
skin41 / 210574194
spleen3 / 5395255
stomach24 / 96619248
testis34 / 330442102
thymus9 / 81131110
thyroid9 / 47473189
tonsil7 / 16999411
trachea1 / 5241319
umbilical cord0 / 136800 
uterus43 / 232878184
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201585_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts782.3
Adipocyte172.45
AdrenalCortex92.9
Adrenalgland106.95
Amygdala121.05
Appendix67
AtrioventricularNode77
BDCA4+_DentriticCells391.5
Bonemarrow196.75
BronchialEpithelialCells363.35
CD105+_Endothelial490.4
CD14+_Monocytes146.7
CD19+_BCells(neg._sel.)129.6
CD33+_Myeloid411.65
CD34+548.1
CD4+_Tcells250.45
CD56+_NKCells236.15
CD71+_EarlyErythroid287.2
CD8+_Tcells156.4
CardiacMyocytes113
Caudatenucleus100.1
Cerebellum138.4
CerebellumPeduncles232.3
CiliaryGanglion62.05
CingulateCortex128.25
Colorectaladenocarcinoma293.4
DorsalRootGanglion69.75
FetalThyroid75.35
Fetalbrain166.4
Fetalliver142.15
Fetallung81.8
GlobusPallidus96.9
Heart87.65
Hypothalamus142.2
Kidney78.95
Leukemia_chronicMyelogenousK-562341.9
Leukemia_promyelocytic-HL-60230.6
Leukemialymphoblastic(MOLT-4)368.75
Liver45.1
Lung119.7
Lymphnode105.55
Lymphoma_burkitts(Daudi)371.15
Lymphoma_burkitts(Raji)158.5
MedullaOblongata68.45
OccipitalLobe94.85
OlfactoryBulb100.25
Ovary78.75
Pancreas86.55
PancreaticIslet172
ParietalLobe99.75
Pituitary132.7
Placenta216.35
Pons85.05
PrefrontalCortex161.75
Prostate135.45
Salivarygland79.25
SkeletalMuscle108
Skin58.7
SmoothMuscle161.65
Spinalcord94.65
SubthalamicNucleus143.45
SuperiorCervicalGanglion86.55
TemporalLobe91.25
Testis80.25
TestisGermCell125.75
TestisIntersitial94.6
TestisLeydigCell117.3
TestisSeminiferousTubule112.05
Thalamus116.25
Thymus339.45
Thyroid127.85
Tongue74.05
Tonsil252.85
Trachea102.65
TrigeminalGanglion96.65
Uterus120.25
UterusCorpus72.5
WholeBlood155.1
Wholebrain157
colon149.2
pineal_day230.24
pineal_night158.12
retina183.35
small_intestine154.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P105283
  • 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
Amygdala9.17 ± 0.39
Basal Forebrain8.86 ± 0.25
Basal Part of Pons8.65 ± 0.17
Cerebellar Cortex8.68 ± 0.35
Cerebellar Nuclei8.68 ± 0.26
Claustrum9.36 ± 0.67
Epithalamus8.39 ± 0.31
Frontal Lobe8.49 ± 0.41
Globus Pallidus9.37 ± 0.16
Hypothalamus8.33 ± 0.3
Insula8.62 ± 0.37
Limbic Lobe8.94 ± 0.49
Mesencephalon8.78 ± 0.33
Myelencephalon8.71 ± 0.57
Occipital Lobe9.2 ± 0.51
Parietal Lobe8.76 ± 0.47
Pontine Tegmentum8.67 ± 0.47
Striatum8.93 ± 0.48
Subthalamus8.63 ± 0.18
Temporal Lobe8.61 ± 0.49
Thalamus8.63 ± 0.35
White Matter9.85 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SfpqCBCerebellum100
100
SfpqCTXCerebral cortex100
100
SfpqHIPHippocampal region100
100
SfpqHPFHippocampal formation100
100
SfpqHYHypothalamus100
100
SfpqLSXLateral septal complex100
100
SfpqMBMidbrain100
100
SfpqMYMedulla100
100
SfpqOLFOlfactory bulb100
100
SfpqPPons100
100
SfpqPALPallidum100
100
SfpqRHPRetrohippocampal region100
100
SfpqsAMYStriatum-like amygdalar nuclei100
100
SfpqSTRStriatum100
100
SfpqSTRdStriatum dorsal region100
100
SfpqSTRvStriatum ventral region100
100
SfpqTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001337 19 297 315 CRLFVGNLPADITEDEFKR Peptide Atlas
SFPQ_HUMAN_298 17 298 314 LFVGNLPADITEDEFKR PRIDE
SFPQ_HUMAN_299 17 299 315 LFVGNLPADITEDEFKR PRIDE
SFPQ_HUMAN_33 12 33 44 SPPPGMGLNQNR PRIDE
SFPQ_HUMAN_367 10 367 376 ATHAAALSVR PRIDE
SFPQ_HUMAN_410 16 410 425 STGKGIVEFASKPAAR PRIDE
SFPQ_HUMAN_431 13 431 443 CSEGVFLLTTTPR PRIDE
SFPQ_HUMAN_444 31 444 474 PVIVEPLEQLDDEDGLPEKLAQKNPMYQKER PRIDE
SFPQ_HUMAN_517 20 517 536 DKLESEMEDAYHEHQANLLR PRIDE
SFPQ_HUMAN_548 12 548 559 RMEELHNQEMQK PRIDE
SFPQ_HUMAN_549 11 549 559 MEELHNQEMQK PRIDE
SFPQ_HUMAN_575 7 575 581 EEEMMIR PRIDE
SFPQ_HUMAN_582 9 582 590 QREMEEQMR PRIDE
SFPQ_HUMAN_592 8 592 599 QREESYSR PRIDE
SFPQ_HUMAN_631 33 631 663 FPPLGGGGGIGYEANPGVPPATMSGSMMGSDMR PRIDE
SFPQ_HUMAN_682 12 682 693 GMGPGTPAGYGR 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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