AutismKB 2.0

Annotation Detail for SPPL3


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Basic Information Top
Gene Symbol:SPPL3 ( DKFZp586C1324,IMP2,MDHV1887,MGC126674,MGC126676,MGC90402,PRO4332,PSL4 )
Gene Full Name: -
Band: 12q24.31
Quick LinksEntrez ID:121665; OMIM: 608240; Uniprot ID:PSL4_HUMAN; ENSEMBL ID: ENSG00000157837; HGNC ID: 30424
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
blastocyst1 / 6231916
fetus36 / 56401263
neonate0 / 310970 
infant0 / 236200 
juvenile5 / 5555689
adult120 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor3 / 9417831
cervical tumor4 / 34366116
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor14 / 26384553
glioma9 / 10688384
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor6 / 9635962
lung tumor7 / 10312767
lymphoma4 / 7175555
non-neoplasia4 / 9725041
normal177 / 336030752
ovarian tumor6 / 7668278
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer3 / 10268029
retinoblastoma4 / 4635686
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder4 / 29757134
blood5 / 12347840
bone3 / 7165541
bone marrow2 / 4880140
brain48 / 110098943
cervix5 / 48171103
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye16 / 21105475
heart3 / 8962633
intestine11 / 23447246
kidney8 / 21177737
larynx0 / 241450 
liver7 / 20774333
lung21 / 33697462
lymph0 / 442700 
lymph node3 / 9161032
mammary gland9 / 15327158
mouth2 / 6705229
muscle3 / 10771527
nerve3 / 15768190
ovary6 / 10205158
pancreas8 / 21481237
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta21 / 28082574
prostate15 / 18934579
salivary gland0 / 201550 
skin11 / 21057452
spleen1 / 5395218
stomach6 / 9661962
testis19 / 33044257
thymus1 / 8113112
thyroid6 / 47473126
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P427622
  • 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
Amygdala6.35 ± 0.48
Basal Forebrain6.25 ± 0.24
Basal Part of Pons5.97 ± 0.27
Cerebellar Cortex6.18 ± 0.3
Cerebellar Nuclei5.98 ± 0.2
Claustrum5.94 ± 0.5
Epithalamus5.96 ± 0.27
Frontal Lobe6.24 ± 0.31
Globus Pallidus5.77 ± 0.32
Hypothalamus6.23 ± 0.2
Insula6.18 ± 0.24
Limbic Lobe6.22 ± 0.29
Mesencephalon6.24 ± 0.33
Myelencephalon6.2 ± 0.31
Occipital Lobe6.04 ± 0.32
Parietal Lobe6.14 ± 0.27
Pontine Tegmentum6.18 ± 0.36
Striatum5.92 ± 0.28
Subthalamus6.22 ± 0.13
Temporal Lobe6.29 ± 0.29
Thalamus6.21 ± 0.25
White Matter6.49 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sppl3CBCerebellum36.01
53.13
Sppl3CTXCerebral cortex100
100
Sppl3HIPHippocampal region92.41
100
Sppl3HPFHippocampal formation100
100
Sppl3HYHypothalamus77.39
70.46
Sppl3LSXLateral septal complex67.88
60.02
Sppl3MBMidbrain70.64
73.02
Sppl3MYMedulla46.95
65.48
Sppl3OLFOlfactory bulb88.17
100
Sppl3PPons49.53
64.53
Sppl3PALPallidum84.11
90.94
Sppl3RHPRetrohippocampal region100
100
Sppl3sAMYStriatum-like amygdalar nuclei100
100
Sppl3STRStriatum85.12
73.32
Sppl3STRdStriatum dorsal region82.22
68.43
Sppl3STRvStriatum ventral region85.69
73.54
Sppl3THThalamus76.8
72.47
Peptide Top

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