AutismKB 2.0

Annotation Detail for SEPT3


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Basic Information Top
Gene Symbol:SEPT3 ( MGC133218,SEP3,bK250D10.3 )
Gene Full Name: septin 3
Band: 22q13.2
Quick LinksEntrez ID:55964; OMIM: 608314; Uniprot ID:SEPT3_HUMAN; ENSEMBL ID: ENSG00000100167; HGNC ID: 10750
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
fetus82 / 564012145
neonate0 / 310970 
infant5 / 23620211
juvenile0 / 555560 
adult72 / 193912137
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 tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor11 / 26384541
glioma8 / 10688374
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal222 / 336030766
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer0 / 1026800 
retinoblastoma7 / 46356151
skin tumor7 / 12494956
soft tissue/muscle tissue tumor2 / 12519115
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 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain191 / 1100989173
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye19 / 21105490
heart0 / 896260 
intestine0 / 2344720 
kidney5 / 21177723
larynx1 / 2414541
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth1 / 6705214
muscle3 / 10771527
nerve3 / 15768190
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate0 / 1893450 
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach0 / 966190 
testis11 / 33044233
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular5 / 5178096
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P211572
  • 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
Amygdala9.47 ± 0.44
Basal Forebrain8.74 ± 0.42
Basal Part of Pons8.79 ± 0.35
Cerebellar Cortex8.5 ± 0.31
Cerebellar Nuclei8.22 ± 0.44
Claustrum9.74 ± 0.63
Epithalamus7.99 ± 0.51
Frontal Lobe8.75 ± 0.57
Globus Pallidus8.16 ± 0.39
Hypothalamus8.42 ± 0.42
Insula8.86 ± 0.45
Limbic Lobe9.39 ± 0.45
Mesencephalon8.71 ± 0.61
Myelencephalon8.75 ± 0.49
Occipital Lobe8.95 ± 0.44
Parietal Lobe8.95 ± 0.65
Pontine Tegmentum8.65 ± 0.43
Striatum8.46 ± 0.56
Subthalamus8.58 ± 0.14
Temporal Lobe8.9 ± 0.43
Thalamus8.59 ± 0.36
White Matter6.92 ± 0.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sept3CBCerebellum92.48
100
Sept3CTXCerebral cortex100
100
Sept3HIPHippocampal region93.38
100
Sept3HPFHippocampal formation99.58
100
Sept3HYHypothalamus90.93
83.28
Sept3LSXLateral septal complex68.95
53.54
Sept3MBMidbrain93.26
98.45
Sept3MYMedulla82.26
100
Sept3OLFOlfactory bulb90.67
98.16
Sept3PPons81.05
100
Sept3PALPallidum82.74
96.07
Sept3RHPRetrohippocampal region100
100
Sept3sAMYStriatum-like amygdalar nuclei89.19
79.18
Sept3STRStriatum54.38
48.2
Sept3STRdStriatum dorsal region47.44
43.96
Sept3STRvStriatum ventral region54.43
44.23
Sept3THThalamus91.4
93.68
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00079344 20 282 301 TPWGIIEVENLNHCEFALLR Peptide Atlas

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