AutismKB 2.0

Annotation Detail for SEPT1


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Basic Information Top
Gene Symbol:SEPT1 ( DIFF6,LARP,MGC20394,PNUTL3,SEP1 )
Gene Full Name: septin 1
Band: 16p11.2
Quick LinksEntrez ID:1731; OMIM: 612897; Uniprot ID:SEPT1_HUMAN; ENSEMBL ID: ENSG00000180096; HGNC ID: 2879
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 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile9 / 55556161
adult41 / 193912121
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 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia17 / 95842177
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma15 / 71755209
non-neoplasia1 / 9725010
normal86 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
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 
blood25 / 123478202
bone1 / 7165513
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver4 / 20774319
lung3 / 3369748
lymph7 / 44270158
lymph node21 / 91610229
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen7 / 53952129
stomach0 / 966190 
testis1 / 3304423
thymus39 / 81131480
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
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_9059_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
Amygdala2.21 ± 1.01
Basal Forebrain2.04 ± 0.64
Basal Part of Pons1.51 ± 0.53
Cerebellar Cortex1.92 ± 0.83
Cerebellar Nuclei2.1 ± 0.69
Claustrum2.77 ± 0.86
Epithalamus1.52 ± 0.81
Frontal Lobe1.63 ± 0.7
Globus Pallidus2.23 ± 0.31
Hypothalamus1.89 ± 0.68
Insula1.63 ± 0.48
Limbic Lobe1.8 ± 0.64
Mesencephalon1.99 ± 0.7
Myelencephalon1.88 ± 0.72
Occipital Lobe1.86 ± 0.65
Parietal Lobe1.93 ± 0.74
Pontine Tegmentum1.88 ± 0.73
Striatum1.83 ± 0.49
Subthalamus2.03 ± 0.75
Temporal Lobe1.8 ± 0.87
Thalamus1.79 ± 0.58
White Matter2.05 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sept1CBCerebellum17.94
24.68
Sept1CTXCerebral cortex35.79
28.75
Sept1HIPHippocampal region8.46
8.31
Sept1HPFHippocampal formation7.66
7.08
Sept1HYHypothalamus1.93
1.51
Sept1LSXLateral septal complex1.91
1.3
Sept1MBMidbrain8.51
8.76
Sept1MYMedulla14.68
17.25
Sept1OLFOlfactory bulb24.86
21.4
Sept1PPons6.52
8.22
Sept1PALPallidum5.22
4.91
Sept1RHPRetrohippocampal region6.35
5.42
Sept1sAMYStriatum-like amygdalar nuclei4.4
3.27
Sept1STRStriatum5.93
4.51
Sept1STRdStriatum dorsal region4.6
3.7
Sept1STRvStriatum ventral region14.26
9.54
Sept1THThalamus5.35
4.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SEPT1_HUMAN_109 11 109 119 FIEEQFEQYLR PRIDE
SEPT1_HUMAN_163 9 163 171 VNIIPVIGK PRIDE
SEPT1_HUMAN_171 13 171 183 ADALMPQETQALK PRIDE
SEPT1_HUMAN_23 16 23 38 GFDFTLMVAGESGLGK PRIDE
SEPT1_HUMAN_278 12 278 289 EVTHDLLYEGYR PRIDE
SEPT1_HUMAN_279 12 279 290 EVTHDLLYEGYR PRIDE
SEPT1_HUMAN_38 16 38 53 STLINSLFLTNLYEDR PRIDE
SEPT1_HUMAN_4 14 4 17 EYVGFAALPNQLHR PRIDE
SEPT1_HUMAN_55 8 55 62 QVPEASAR PRIDE
SEPT1_HUMAN_85 24 85 108 LTLVDTPGFGDSVDCSDCWLPVVK PRIDE

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