AutismKB 2.0

Annotation Detail for WBSCR17


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Basic Information Top
Gene Symbol:WBSCR17 ( DKFZp434I2216,DKFZp761D2324,GALNT16,GALNT20,GALNTL3 )
Gene Full Name: Williams-Beuren syndrome chromosome region 17
Band: 7q11.23
Quick LinksEntrez ID:64409; OMIM: NA; Uniprot ID:GLTL3_HUMAN; ENSEMBL ID: ENSG00000185274; 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 body1 / 7076114
blastocyst4 / 6231964
fetus9 / 56401215
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult25 / 193912112
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal87 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 marrow0 / 488010 
brain74 / 110098967
cervix0 / 481710 
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine2 / 2344728
kidney6 / 21177728
larynx0 / 241450 
liver0 / 2077430 
lung15 / 33697444
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate6 / 18934531
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
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_14031_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
Amygdala8.47 ± 0.63
Basal Forebrain7.11 ± 0.23
Basal Part of Pons7.76 ± 0.45
Cerebellar Cortex7.98 ± 0.33
Cerebellar Nuclei7.05 ± 0.5
Claustrum7.87 ± 0.59
Epithalamus6.7 ± 0.78
Frontal Lobe7.8 ± 0.55
Globus Pallidus5.35 ± 0.79
Hypothalamus6.97 ± 0.62
Insula7.95 ± 0.38
Limbic Lobe8.57 ± 0.65
Mesencephalon7.22 ± 0.6
Myelencephalon7.74 ± 0.62
Occipital Lobe8.35 ± 0.76
Parietal Lobe7.9 ± 0.59
Pontine Tegmentum7.78 ± 0.73
Striatum7.51 ± 0.64
Subthalamus6.72 ± 0.37
Temporal Lobe7.94 ± 0.4
Thalamus7.89 ± 0.45
White Matter5.02 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Wbscr17CBCerebellum91.7
78.37
Wbscr17CTXCerebral cortex81.93
58.8
Wbscr17HIPHippocampal region98.64
100
Wbscr17HPFHippocampal formation100
100
Wbscr17HYHypothalamus66.44
42.95
Wbscr17LSXLateral septal complex80.58
61.85
Wbscr17MBMidbrain57.38
43.41
Wbscr17MYMedulla82.57
67.8
Wbscr17OLFOlfactory bulb78.68
55.4
Wbscr17PPons61.74
49.48
Wbscr17PALPallidum45.96
33.01
Wbscr17RHPRetrohippocampal region93.65
80.82
Wbscr17sAMYStriatum-like amygdalar nuclei57.6
33.87
Wbscr17STRStriatum63.82
38.02
Wbscr17STRdStriatum dorsal region67.1
40.87
Wbscr17STRvStriatum ventral region47.4
24.53
Wbscr17THThalamus100
100
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