AutismKB 2.0

Annotation Detail for SGK223


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Basic Information Top
Gene Symbol:SGK223 ( DKFZp761P0423,PRAGMIN )
Gene Full Name: -
Band: 8p23.1
Quick LinksEntrez ID:157285; OMIM: NA; Uniprot ID:SG223_HUMAN; ENSEMBL ID: ENSG00000182319; HGNC ID:
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 body10 / 70761141
blastocyst5 / 6231980
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult14 / 19391217
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal32 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow4 / 4880181
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney3 / 21177714
larynx1 / 2414541
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node3 / 9161032
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P250212
  • 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
Amygdala9.75 ± 0.84
Basal Forebrain9.12 ± 0.24
Basal Part of Pons8.7 ± 0.24
Cerebellar Cortex10.14 ± 0.28
Cerebellar Nuclei8.48 ± 0.39
Claustrum8.9 ± 0.45
Epithalamus9.24 ± 0.41
Frontal Lobe9.47 ± 0.56
Globus Pallidus7.71 ± 0.49
Hypothalamus8.78 ± 0.26
Insula9.3 ± 0.33
Limbic Lobe9.42 ± 0.77
Mesencephalon8.97 ± 0.46
Myelencephalon9.42 ± 0.47
Occipital Lobe10.06 ± 0.58
Parietal Lobe9.64 ± 0.47
Pontine Tegmentum9.62 ± 0.65
Striatum10.09 ± 0.73
Subthalamus9.8 ± 0.93
Temporal Lobe9.4 ± 0.55
Thalamus9.81 ± 0.58
White Matter7.17 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D8Ertd82eCBCerebellum62.93
85.2
D8Ertd82eCTXCerebral cortex32.78
29.61
D8Ertd82eHIPHippocampal region8.33
9.17
D8Ertd82eHPFHippocampal formation13.39
13.47
D8Ertd82eHYHypothalamus3.99
3.47
D8Ertd82eLSXLateral septal complex4.19
3.74
D8Ertd82eMBMidbrain4.26
4.44
D8Ertd82eMYMedulla6.21
7.31
D8Ertd82eOLFOlfactory bulb15.81
13.91
D8Ertd82ePPons3.59
3.63
D8Ertd82ePALPallidum2.98
2.43
D8Ertd82eRHPRetrohippocampal region20.87
18.63
D8Ertd82esAMYStriatum-like amygdalar nuclei7.84
5.98
D8Ertd82eSTRStriatum4.67
3.96
D8Ertd82eSTRdStriatum dorsal region4.03
3.79
D8Ertd82eSTRvStriatum ventral region5.7
3.76
D8Ertd82eTHThalamus6.05
6.02
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