AutismKB 2.0

Annotation Detail for SEPHS2


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Basic Information Top
Gene Symbol:SEPHS2 ( SPS2 )
Gene Full Name: selenophosphate synthetase 2
Band: 16p11.2
Quick LinksEntrez ID:22928; OMIM: 606218; Uniprot ID:SPS2_HUMAN; ENSEMBL ID: ENSG00000179918,ENSG00000246275; HGNC ID: 19686
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
blastocyst3 / 6231948
fetus62 / 564012109
neonate13 / 31097418
infant7 / 23620296
juvenile51 / 55556917
adult227 / 1939121117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor18 / 94178191
cervical tumor6 / 34366174
chondrosarcoma5 / 8282360
colorectal tumor17 / 114246148
esophageal tumor3 / 17290173
gastrointestinal tumor15 / 119369125
germ cell tumor73 / 263845276
glioma12 / 106883112
head and neck tumor8 / 13630258
kidney tumor11 / 68959159
leukemia18 / 95842187
liver tumor62 / 96359643
lung tumor12 / 103127116
lymphoma18 / 71755250
non-neoplasia6 / 9725061
normal466 / 3360307138
ovarian tumor1 / 7668213
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer11 / 102680107
retinoblastoma4 / 4635686
skin tumor9 / 12494972
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites3 / 4001574
bladder7 / 29757235
blood40 / 123478323
bone8 / 71655111
bone marrow5 / 48801102
brain149 / 1100989135
cervix6 / 48171124
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus3 / 20209148
eye24 / 211054113
heart18 / 89626200
intestine49 / 234472208
kidney67 / 211777316
larynx1 / 2414541
liver85 / 207743409
lung33 / 33697497
lymph10 / 44270225
lymph node6 / 9161065
mammary gland26 / 153271169
mouth4 / 6705259
muscle8 / 10771574
nerve1 / 1576863
ovary1 / 1020519
pancreas28 / 214812130
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta32 / 280825113
prostate31 / 189345163
salivary gland1 / 2015549
skin22 / 210574104
spleen13 / 53952240
stomach16 / 96619165
testis22 / 33044266
thymus16 / 81131197
thyroid4 / 4747384
tonsil4 / 16999235
trachea10 / 52413190
umbilical cord0 / 136800 
uterus33 / 232878141
vascular12 / 51780231
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8110_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
Amygdala6.89 ± 0.33
Basal Forebrain6.42 ± 0.24
Basal Part of Pons6.85 ± 0.35
Cerebellar Cortex6.81 ± 0.26
Cerebellar Nuclei6.87 ± 0.37
Claustrum6.49 ± 0.49
Epithalamus6.41 ± 0.31
Frontal Lobe6.73 ± 0.3
Globus Pallidus6.15 ± 0.43
Hypothalamus6.76 ± 0.27
Insula6.61 ± 0.26
Limbic Lobe7 ± 0.3
Mesencephalon6.75 ± 0.31
Myelencephalon6.76 ± 0.35
Occipital Lobe7.28 ± 0.26
Parietal Lobe6.82 ± 0.33
Pontine Tegmentum6.76 ± 0.37
Striatum6.92 ± 0.33
Subthalamus6.9 ± 0.12
Temporal Lobe6.79 ± 0.33
Thalamus6.74 ± 0.36
White Matter5.79 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sephs2CBCerebellum10.04
10.58
Sephs2CTXCerebral cortex6.04
4.63
Sephs2HIPHippocampal region9.91
9.96
Sephs2HPFHippocampal formation7.59
7.35
Sephs2HYHypothalamus0.84
0.71
Sephs2LSXLateral septal complex1.2
1.06
Sephs2MBMidbrain1.58
1.81
Sephs2MYMedulla4.21
4.93
Sephs2OLFOlfactory bulb8.27
6.42
Sephs2PPons2.18
3.24
Sephs2PALPallidum2.26
2.01
Sephs2RHPRetrohippocampal region3.15
3.33
Sephs2sAMYStriatum-like amygdalar nuclei1.52
1.17
Sephs2STRStriatum2.67
1.98
Sephs2STRdStriatum dorsal region2.5
1.82
Sephs2STRvStriatum ventral region4.57
3.21
Sephs2THThalamus3.12
2.71
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