AutismKB 2.0

Annotation Detail for SGMS2


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Basic Information Top
Gene Symbol:SGMS2 ( MGC26963,SMS2 )
Gene Full Name: sphingomyelin synthase 2
Band: 4q25
Quick LinksEntrez ID:166929; OMIM: 611574; Uniprot ID:SMS2_HUMAN; ENSEMBL ID: ENSG00000164023; HGNC ID: 28395
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 
blastocyst0 / 623190 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult54 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor9 / 13630266
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal82 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow1 / 4880120
brain10 / 11009899
cervix0 / 481710 
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus1 / 2020949
eye1 / 2110544
heart0 / 896260 
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung15 / 33697444
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth3 / 6705244
muscle7 / 10771564
nerve0 / 157680 
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach6 / 9661962
testis22 / 33044266
thymus1 / 8113112
thyroid6 / 47473126
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus7 / 23287830
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_P326204
  • 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
Amygdala3.57 ± 0.85
Basal Forebrain3.47 ± 1.18
Basal Part of Pons2.62 ± 0.5
Cerebellar Cortex3.88 ± 0.4
Cerebellar Nuclei3.42 ± 0.83
Claustrum3.41 ± 0.78
Epithalamus5.2 ± 1.05
Frontal Lobe3.17 ± 0.91
Globus Pallidus3.39 ± 0.86
Hypothalamus3.71 ± 0.51
Insula3.12 ± 0.63
Limbic Lobe3.1 ± 0.85
Mesencephalon3.55 ± 0.84
Myelencephalon3.39 ± 0.82
Occipital Lobe3.77 ± 1.01
Parietal Lobe3.23 ± 0.84
Pontine Tegmentum3.44 ± 0.76
Striatum3.16 ± 1.17
Subthalamus3.22 ± 0.17
Temporal Lobe3.14 ± 0.86
Thalamus3.46 ± 0.77
White Matter2.8 ± 0.82
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4933405A16RikCBCerebellum3.8
6.38
4933405A16RikCTXCerebral cortex4.83
3.65
4933405A16RikHIPHippocampal region1.1
1.1
4933405A16RikHPFHippocampal formation1.23
1.07
4933405A16RikHYHypothalamus0.19
0.19
4933405A16RikLSXLateral septal complex0.14
0.08
4933405A16RikMBMidbrain0.68
0.79
4933405A16RikMYMedulla1.82
3.66
4933405A16RikOLFOlfactory bulb3.34
3.38
4933405A16RikPPons0.77
1.25
4933405A16RikPALPallidum2.63
2.5
4933405A16RikRHPRetrohippocampal region1.43
1.04
4933405A16RiksAMYStriatum-like amygdalar nuclei6.83
6.21
4933405A16RikSTRStriatum4.87
3.55
4933405A16RikSTRdStriatum dorsal region5.9
4.16
4933405A16RikSTRvStriatum ventral region1.51
0.96
4933405A16RikTHThalamus6.15
7.51
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