AutismKB 2.0

Annotation Detail for SBSN


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Basic Information Top
Gene Symbol:SBSN ( MGC75533,UNQ698 )
Gene Full Name: suprabasin
Band: 19q13.13
Quick LinksEntrez ID:374897; OMIM: 609969; Uniprot ID:SBSN_HUMAN; ENSEMBL ID: ENSG00000189001; HGNC ID: 24950
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor15 / 136302110
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal44 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye0 / 2110540 
heart3 / 8962633
intestine0 / 2344720 
kidney0 / 2117770 
larynx5 / 24145207
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth9 / 67052134
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin35 / 210574166
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
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: CUST_1_PI416573500
  • 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
Amygdala2.6 ± 1.07
Basal Forebrain2.68 ± 0.69
Basal Part of Pons2.39 ± 0.74
Cerebellar Cortex2.73 ± 0.66
Cerebellar Nuclei2.7 ± 0.55
Claustrum2.66 ± 0.74
Epithalamus1.44 ± 0.89
Frontal Lobe2.14 ± 0.87
Globus Pallidus2.86 ± 0.9
Hypothalamus1.97 ± 0.95
Insula1.98 ± 0.63
Limbic Lobe2.28 ± 0.78
Mesencephalon2.41 ± 0.84
Myelencephalon2.27 ± 0.77
Occipital Lobe2.6 ± 0.84
Parietal Lobe2.29 ± 0.92
Pontine Tegmentum2.38 ± 1.02
Striatum3.36 ± 0.95
Subthalamus1.95 ± 0.79
Temporal Lobe2.1 ± 0.72
Thalamus2.2 ± 0.8
White Matter1.75 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SbsnCBCerebellum16.19
19.46
SbsnCTXCerebral cortex23.19
15.01
SbsnHIPHippocampal region11.75
9.97
SbsnHPFHippocampal formation17.82
13.58
SbsnHYHypothalamus11.4
9.47
SbsnLSXLateral septal complex2.3
1.46
SbsnMBMidbrain9.61
8.06
SbsnMYMedulla19.92
20.08
SbsnOLFOlfactory bulb34.76
26.23
SbsnPPons12.45
13.47
SbsnPALPallidum17.05
13.96
SbsnRHPRetrohippocampal region34.78
23.02
SbsnsAMYStriatum-like amygdalar nuclei14.08
9.22
SbsnSTRStriatum21.11
13.88
SbsnSTRdStriatum dorsal region23.28
15.23
SbsnSTRvStriatum ventral region31
20.11
SbsnTHThalamus15.3
11.68
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