AutismKB 2.0

Annotation Detail for SPNS1


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Basic Information Top
Gene Symbol:SPNS1 ( FLJ38358,HSpin1,LAT,PP2030,SPIN1,SPINL,nrs )
Gene Full Name: spinster homolog 1 (Drosophila)
Band: 16p11.2
Quick LinksEntrez ID:83985; OMIM: 612583; Uniprot ID:SPNS1_HUMAN; ENSEMBL ID: ENSG00000169682; HGNC ID: 30621
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 body2 / 7076128
blastocyst3 / 6231948
fetus20 / 56401235
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult131 / 193912167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma8 / 8282396
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor16 / 119369134
germ cell tumor15 / 26384556
glioma9 / 10688384
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia13 / 95842135
liver tumor2 / 9635920
lung tumor6 / 10312758
lymphoma5 / 7175569
non-neoplasia2 / 9725020
normal164 / 336030748
ovarian tumor2 / 7668226
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer4 / 10268038
retinoblastoma7 / 46356151
skin tumor33 / 124949264
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder3 / 29757100
blood30 / 123478242
bone6 / 7165583
bone marrow5 / 48801102
brain41 / 110098937
cervix10 / 48171207
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye24 / 211054113
heart2 / 8962622
intestine17 / 23447272
kidney7 / 21177733
larynx3 / 24145124
liver3 / 20774314
lung13 / 33697438
lymph0 / 442700 
lymph node3 / 9161032
mammary gland5 / 15327132
mouth1 / 6705214
muscle1 / 1077159
nerve2 / 15768126
ovary7 / 10205168
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta22 / 28082578
prostate5 / 18934526
salivary gland0 / 201550 
skin36 / 210574170
spleen2 / 5395237
stomach8 / 9661982
testis9 / 33044227
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10649_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
Amygdala3.54 ± 0.57
Basal Forebrain3.16 ± 0.29
Basal Part of Pons3.78 ± 0.74
Cerebellar Cortex3.96 ± 0.56
Cerebellar Nuclei3.44 ± 0.72
Claustrum3.07 ± 0.76
Epithalamus3.73 ± 0.68
Frontal Lobe3.75 ± 0.69
Globus Pallidus3.3 ± 0.42
Hypothalamus3.58 ± 0.63
Insula3.56 ± 0.57
Limbic Lobe3.43 ± 0.59
Mesencephalon3.62 ± 0.63
Myelencephalon3.6 ± 0.59
Occipital Lobe3.27 ± 0.68
Parietal Lobe3.47 ± 0.65
Pontine Tegmentum3.47 ± 0.64
Striatum3.35 ± 0.67
Subthalamus3.29 ± 0.72
Temporal Lobe3.7 ± 0.6
Thalamus3.68 ± 0.59
White Matter3.94 ± 0.53
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2210013K02RikCBCerebellum0
0
2210013K02RikCTXCerebral cortex0
0
2210013K02RikHIPHippocampal region0
0
2210013K02RikHPFHippocampal formation0
0
2210013K02RikHYHypothalamus0
0
2210013K02RikLSXLateral septal complex0
0
2210013K02RikMBMidbrain0
0
2210013K02RikMYMedulla0
0
2210013K02RikOLFOlfactory bulb0
0
2210013K02RikPPons0
0
2210013K02RikPALPallidum0
0
2210013K02RikRHPRetrohippocampal region0
0
2210013K02RiksAMYStriatum-like amygdalar nuclei0
0
2210013K02RikSTRStriatum0
0
2210013K02RikSTRdStriatum dorsal region0
0
2210013K02RikSTRvStriatum ventral region0
0
2210013K02RikTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039511 18 418 435 AQLHVQGLLHEAGSTDDR 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