AutismKB 2.0

Annotation Detail for SYNGAP1


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Basic Information Top
Gene Symbol:SYNGAP1 ( DKFZp761G1421,KIAA1938,MRD5,RASA1,RASA5,SYNGAP )
Gene Full Name: synaptic Ras GTPase activating protein 1
Band: 6p21.32
Quick LinksEntrez ID:8831; OMIM: 603384; Uniprot ID:SYGP1_HUMAN; ENSEMBL ID: ENSG00000197283; HGNC ID: 11497
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 
blastocyst3 / 6231948
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult25 / 193912112
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal55 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain23 / 110098920
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine3 / 23447212
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus1 / 8113112
thyroid1 / 4747321
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_623_PI416408490
  • 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
Amygdala3.51 ± 0.7
Basal Forebrain3.03 ± 0.64
Basal Part of Pons3.23 ± 0.62
Cerebellar Cortex2.97 ± 0.69
Cerebellar Nuclei3.01 ± 0.51
Claustrum3.35 ± 0.81
Epithalamus2.97 ± 0.64
Frontal Lobe3.31 ± 0.72
Globus Pallidus2.4 ± 0.86
Hypothalamus2.69 ± 0.62
Insula3.61 ± 0.54
Limbic Lobe3.82 ± 0.65
Mesencephalon3.22 ± 0.78
Myelencephalon3.32 ± 0.71
Occipital Lobe3.4 ± 0.59
Parietal Lobe3.27 ± 0.73
Pontine Tegmentum3.23 ± 0.69
Striatum3.64 ± 0.78
Subthalamus3.08 ± 0.72
Temporal Lobe3.5 ± 0.57
Thalamus3.12 ± 0.66
White Matter1.97 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Syngap1CBCerebellum90.92
100
Syngap1CTXCerebral cortex100
100
Syngap1HIPHippocampal region100
100
Syngap1HPFHippocampal formation100
100
Syngap1HYHypothalamus93
75.1
Syngap1LSXLateral septal complex100
100
Syngap1MBMidbrain78.6
70.84
Syngap1MYMedulla59.27
56.13
Syngap1OLFOlfactory bulb100
100
Syngap1PPons57.42
54.49
Syngap1PALPallidum93.42
89.77
Syngap1RHPRetrohippocampal region100
100
Syngap1sAMYStriatum-like amygdalar nuclei100
100
Syngap1STRStriatum100
100
Syngap1STRdStriatum dorsal region100
100
Syngap1STRvStriatum ventral region100
100
Syngap1THThalamus100
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