AutismKB 2.0

Annotation Detail for SEZ6L2


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Basic Information Top
Gene Symbol:SEZ6L2 ( FLJ90517,PSK-1 )
Gene Full Name: seizure related 6 homolog (mouse)-like 2
Band: 16p11.2
Quick LinksEntrez ID:26470; OMIM: NA; Uniprot ID:SE6L2_HUMAN; ENSEMBL ID: ENSG00000174938; HGNC ID: 30844
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 body2 / 7076128
blastocyst3 / 6231948
fetus29 / 56401251
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult133 / 193912168
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor22 / 26384583
glioma12 / 106883112
head and neck tumor3 / 13630222
kidney tumor6 / 6895987
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal193 / 336030757
ovarian tumor13 / 76682169
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer23 / 102680223
retinoblastoma6 / 46356129
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
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 
ascites2 / 4001549
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain94 / 110098985
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye35 / 211054165
heart3 / 8962633
intestine4 / 23447217
kidney9 / 21177742
larynx1 / 2414541
liver1 / 2077434
lung11 / 33697432
lymph0 / 442700 
lymph node0 / 916100 
mammary gland9 / 15327158
mouth0 / 670520 
muscle3 / 10771527
nerve3 / 15768190
ovary14 / 102051137
pancreas30 / 214812139
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate26 / 189345137
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach1 / 9661910
testis22 / 33044266
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218720_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.5
Adipocyte3.6
AdrenalCortex3.7
Adrenalgland3.5
Amygdala65.15
Appendix3.6
AtrioventricularNode2.65
BDCA4+_DentriticCells4
Bonemarrow3.55
BronchialEpithelialCells3.55
CD105+_Endothelial3.6
CD14+_Monocytes3.8
CD19+_BCells(neg._sel.)3.8
CD33+_Myeloid4.6
CD34+4.55
CD4+_Tcells3.9
CD56+_NKCells4.25
CD71+_EarlyErythroid3.35
CD8+_Tcells3.5
CardiacMyocytes4.9
Caudatenucleus4.95
Cerebellum70.45
CerebellumPeduncles40.95
CiliaryGanglion2.45
CingulateCortex14.2
Colorectaladenocarcinoma3.75
DorsalRootGanglion2.7
FetalThyroid3.5
Fetalbrain42.3
Fetalliver3.15
Fetallung3
GlobusPallidus2.7
Heart4.6
Hypothalamus10.15
Kidney2.9
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)2.9
Liver4.7
Lung4
Lymphnode3.1
Lymphoma_burkitts(Daudi)4.6
Lymphoma_burkitts(Raji)4.95
MedullaOblongata5.1
OccipitalLobe5.25
OlfactoryBulb2.85
Ovary2.4
Pancreas2.9
PancreaticIslet9.55
ParietalLobe14.3
Pituitary22.8
Placenta3.7
Pons4.8
PrefrontalCortex35.4
Prostate16.75
Salivarygland2.9
SkeletalMuscle4.15
Skin2.7
SmoothMuscle4.35
Spinalcord6.2
SubthalamicNucleus4.25
SuperiorCervicalGanglion4
TemporalLobe9.8
Testis4.15
TestisGermCell3.3
TestisIntersitial3
TestisLeydigCell3.55
TestisSeminiferousTubule3.1
Thalamus5.05
Thymus2.8
Thyroid4.5
Tongue3.5
Tonsil3.5
Trachea3.1
TrigeminalGanglion3.45
Uterus2.95
UterusCorpus3.25
WholeBlood3.95
Wholebrain66.2
colon3.65
pineal_day615.08
pineal_night630.08
retina16.675
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P10194
  • 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
Amygdala10.74 ± 0.47
Basal Forebrain10.55 ± 0.34
Basal Part of Pons11.88 ± 0.26
Cerebellar Cortex11.38 ± 0.2
Cerebellar Nuclei11.32 ± 0.53
Claustrum11.14 ± 0.37
Epithalamus10.3 ± 0.68
Frontal Lobe11.29 ± 0.39
Globus Pallidus9.58 ± 0.48
Hypothalamus11.45 ± 0.38
Insula11.26 ± 0.18
Limbic Lobe10.93 ± 0.71
Mesencephalon10.77 ± 0.47
Myelencephalon10.93 ± 0.71
Occipital Lobe10.4 ± 0.65
Parietal Lobe11.11 ± 0.47
Pontine Tegmentum10.91 ± 0.36
Striatum10.02 ± 0.63
Subthalamus11.48 ± 0.28
Temporal Lobe11.3 ± 0.38
Thalamus11.04 ± 0.29
White Matter9.69 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sez6l2CBCerebellum100
100
Sez6l2CTXCerebral cortex100
85.49
Sez6l2HIPHippocampal region97.89
100
Sez6l2HPFHippocampal formation100
100
Sez6l2HYHypothalamus100
85.72
Sez6l2LSXLateral septal complex100
80.32
Sez6l2MBMidbrain100
94.44
Sez6l2MYMedulla100
100
Sez6l2OLFOlfactory bulb100
95.07
Sez6l2PPons100
100
Sez6l2PALPallidum100
91.64
Sez6l2RHPRetrohippocampal region100
94.89
Sez6l2sAMYStriatum-like amygdalar nuclei89.28
73.95
Sez6l2STRStriatum80.04
67.42
Sez6l2STRdStriatum dorsal region78.92
67.08
Sez6l2STRvStriatum ventral region72.24
61.29
Sez6l2THThalamus100
84.03
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00137664 16 647 662 TASDAGFPVGSHVQYR 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