AutismKB 2.0

Annotation Detail for SEPT5


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Basic Information Top
Gene Symbol:SEPT5 ( CDCREL,CDCREL-1,CDCREL1,H5,PNUTL1 )
Gene Full Name: septin 5
Band: 22q11.21
Quick LinksEntrez ID:5413; OMIM: 602724; Uniprot ID:SEPT5_HUMAN; ENSEMBL ID: ENSG00000184702; HGNC ID: 9164
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209768_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.6
Adipocyte19.3
AdrenalCortex22.7
Adrenalgland16.85
Amygdala21.85
Appendix20.35
AtrioventricularNode17.05
BDCA4+_DentriticCells18.5
Bonemarrow20.65
BronchialEpithelialCells17.45
CD105+_Endothelial19.35
CD14+_Monocytes15.9
CD19+_BCells(neg._sel.)18.6
CD33+_Myeloid20.9
CD34+21.8
CD4+_Tcells21.45
CD56+_NKCells20.2
CD71+_EarlyErythroid18.6
CD8+_Tcells19.3
CardiacMyocytes26.15
Caudatenucleus37.6
Cerebellum16.2
CerebellumPeduncles48.15
CiliaryGanglion15.7
CingulateCortex36.05
Colorectaladenocarcinoma20
DorsalRootGanglion15.75
FetalThyroid18.7
Fetalbrain50.1
Fetalliver17.25
Fetallung14.75
GlobusPallidus15.1
Heart28.7
Hypothalamus19.15
Kidney16.9
Leukemia_chronicMyelogenousK-56222.1
Leukemia_promyelocytic-HL-6017.4
Leukemialymphoblastic(MOLT-4)16.15
Liver26.45
Lung19.4
Lymphnode16.65
Lymphoma_burkitts(Daudi)25.3
Lymphoma_burkitts(Raji)28.6
MedullaOblongata18.25
OccipitalLobe20
OlfactoryBulb15.5
Ovary17.7
Pancreas16.15
PancreaticIslet20.5
ParietalLobe37.5
Pituitary23
Placenta17.35
Pons40.8
PrefrontalCortex27.95
Prostate22.5
Salivarygland16.15
SkeletalMuscle37.55
Skin22.15
SmoothMuscle19.05
Spinalcord21.4
SubthalamicNucleus25.8
SuperiorCervicalGanglion22.95
TemporalLobe35.4
Testis16.35
TestisGermCell16
TestisIntersitial16.8
TestisLeydigCell21.45
TestisSeminiferousTubule17.3
Thalamus31
Thymus11.6
Thyroid22.1
Tongue24.7
Tonsil20.5
Trachea16.2
TrigeminalGanglion21.2
Uterus15.7
UterusCorpus19.75
WholeBlood19.8
Wholebrain23.3
colon20.35
pineal_day26.52
pineal_night25.24
retina31.425
small_intestine17.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P297166
  • 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
Amygdala6.3 ± 0.63
Basal Forebrain5.56 ± 0.4
Basal Part of Pons6.08 ± 0.35
Cerebellar Cortex5.35 ± 0.3
Cerebellar Nuclei4.49 ± 0.84
Claustrum6.14 ± 0.58
Epithalamus4.78 ± 0.89
Frontal Lobe5.81 ± 0.67
Globus Pallidus3.69 ± 0.94
Hypothalamus4.92 ± 0.53
Insula6.03 ± 0.19
Limbic Lobe6.13 ± 0.53
Mesencephalon5.29 ± 0.63
Myelencephalon5.6 ± 0.58
Occipital Lobe5.19 ± 0.73
Parietal Lobe5.68 ± 0.63
Pontine Tegmentum5.49 ± 0.69
Striatum5.92 ± 0.64
Subthalamus5.01 ± 0.42
Temporal Lobe6.07 ± 0.49
Thalamus5.46 ± 0.44
White Matter3.45 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sept5CBCerebellum30.02
44.74
Sept5CTXCerebral cortex85.79
76.97
Sept5HIPHippocampal region57.77
71.89
Sept5HPFHippocampal formation56.18
64.54
Sept5HYHypothalamus17.46
12.33
Sept5LSXLateral septal complex10.57
8.22
Sept5MBMidbrain25.58
24.2
Sept5MYMedulla37.61
37.22
Sept5OLFOlfactory bulb75.76
79.37
Sept5PPons27.55
29.53
Sept5PALPallidum9.01
8.6
Sept5RHPRetrohippocampal region51.97
51.88
Sept5sAMYStriatum-like amygdalar nuclei38.85
31
Sept5STRStriatum28.94
21.48
Sept5STRdStriatum dorsal region26.54
19.93
Sept5STRvStriatum ventral region40.57
26.88
Sept5THThalamus44.73
45.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00026810 19 264 282 LYPWGIVEVENQAHCDFVK 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