AutismKB 2.0

Annotation Detail for SP110


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SP110 ( FLJ22835,IFI41,IFI75,IPR1,VODI )
Gene Full Name: SP110 nuclear body protein
Band: 2q37.1
Quick LinksEntrez ID:3431; OMIM: 604457; Uniprot ID:SP110_HUMAN; ENSEMBL ID: ENSG00000135899; HGNC ID: 5401
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 body0 / 707610 
blastocyst1 / 6231916
fetus27 / 56401247
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult73 / 193912137
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia24 / 95842250
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma12 / 71755167
non-neoplasia4 / 9725041
normal135 / 336030740
ovarian tumor10 / 76682130
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood17 / 123478137
bone6 / 7165583
bone marrow16 / 48801327
brain19 / 110098917
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye7 / 21105433
heart3 / 8962633
intestine11 / 23447246
kidney8 / 21177737
larynx0 / 241450 
liver3 / 20774314
lung13 / 33697438
lymph12 / 44270271
lymph node14 / 91610152
mammary gland6 / 15327139
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary11 / 102051107
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen10 / 53952185
stomach5 / 9661951
testis2 / 3304426
thymus6 / 8113173
thyroid0 / 474730 
tonsil5 / 16999294
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208012_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts391.6
Adipocyte6.25
AdrenalCortex7.3
Adrenalgland5.75
Amygdala6.4
Appendix8
AtrioventricularNode5.7
BDCA4+_DentriticCells691.8
Bonemarrow12.75
BronchialEpithelialCells6.35
CD105+_Endothelial33.55
CD14+_Monocytes343.35
CD19+_BCells(neg._sel.)1322
CD33+_Myeloid351.7
CD34+163.85
CD4+_Tcells396.2
CD56+_NKCells657.25
CD71+_EarlyErythroid7.3
CD8+_Tcells239.5
CardiacMyocytes9.3
Caudatenucleus7.05
Cerebellum5.35
CerebellumPeduncles7.35
CiliaryGanglion5.25
CingulateCortex6.95
Colorectaladenocarcinoma6.4
DorsalRootGanglion5.8
FetalThyroid6.55
Fetalbrain6.45
Fetalliver5.8
Fetallung13.1
GlobusPallidus4.9
Heart9.4
Hypothalamus6.95
Kidney5.5
Leukemia_chronicMyelogenousK-5627.6
Leukemia_promyelocytic-HL-6064.35
Leukemialymphoblastic(MOLT-4)13.9
Liver9.35
Lung25.45
Lymphnode69
Lymphoma_burkitts(Daudi)175.95
Lymphoma_burkitts(Raji)11.65
MedullaOblongata6
OccipitalLobe5.65
OlfactoryBulb7.3
Ovary5.1
Pancreas5.55
PancreaticIslet8.45
ParietalLobe7.1
Pituitary7.7
Placenta9.5
Pons6.05
PrefrontalCortex9.15
Prostate17.7
Salivarygland7.45
SkeletalMuscle8.55
Skin5.35
SmoothMuscle8.15
Spinalcord6.85
SubthalamicNucleus6
SuperiorCervicalGanglion7.85
TemporalLobe5.95
Testis5.6
TestisGermCell5.85
TestisIntersitial5.4
TestisLeydigCell6.45
TestisSeminiferousTubule5.9
Thalamus6.4
Thymus42
Thyroid10.7
Tongue7.2
Tonsil137.85
Trachea6.2
TrigeminalGanglion7.15
Uterus9.05
UterusCorpus6.15
WholeBlood545.25
Wholebrain5.1
colon29.5
pineal_day7.74
pineal_night7.5
retina10.4
small_intestine21.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7182_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
Amygdala6.27 ± 0.4
Basal Forebrain6.9 ± 0.24
Basal Part of Pons6.29 ± 0.28
Cerebellar Cortex6 ± 0.17
Cerebellar Nuclei7.01 ± 0.36
Claustrum6.65 ± 0.4
Epithalamus6.87 ± 0.31
Frontal Lobe6.28 ± 0.49
Globus Pallidus7.83 ± 0.21
Hypothalamus6.32 ± 0.48
Insula6.06 ± 0.33
Limbic Lobe6.23 ± 0.61
Mesencephalon6.57 ± 0.45
Myelencephalon6.56 ± 0.47
Occipital Lobe6.51 ± 0.45
Parietal Lobe6.29 ± 0.47
Pontine Tegmentum6.42 ± 0.56
Striatum7 ± 0.51
Subthalamus6.55 ± 0.14
Temporal Lobe6.27 ± 0.33
Thalamus6.64 ± 0.31
White Matter8.18 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5830484A20RikCBCerebellum19.78
28.11
5830484A20RikCTXCerebral cortex25.31
21.19
5830484A20RikHIPHippocampal region21.58
27.53
5830484A20RikHPFHippocampal formation24.68
26.76
5830484A20RikHYHypothalamus3.44
3.7
5830484A20RikLSXLateral septal complex2.84
2.8
5830484A20RikMBMidbrain3.75
6.49
5830484A20RikMYMedulla11.86
14.61
5830484A20RikOLFOlfactory bulb31.2
28.96
5830484A20RikPPons6.41
8.08
5830484A20RikPALPallidum6.8
7.41
5830484A20RikRHPRetrohippocampal region31.64
25.71
5830484A20RiksAMYStriatum-like amygdalar nuclei23.83
20.43
5830484A20RikSTRStriatum12.1
11.07
5830484A20RikSTRdStriatum dorsal region10.72
10.79
5830484A20RikSTRvStriatum ventral region16.41
12.38
5830484A20RikTHThalamus5.35
7.01
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00515961 22 254 275 DNSPEPNDPEEPQEVSSTPSDK Peptide Atlas

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