AutismKB 2.0

Annotation Detail for SEC23A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SEC23A ( CLSD,MGC26267 )
Gene Full Name: Sec23 homolog A (S. cerevisiae)
Band: 14q21.1
Quick LinksEntrez ID:10484; OMIM: 610511; Uniprot ID:SC23A_HUMAN; ENSEMBL ID: ENSG00000100934; HGNC ID: 10701
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 body13 / 70761183
blastocyst6 / 6231996
fetus47 / 56401283
neonate8 / 31097257
infant0 / 236200 
juvenile24 / 55556431
adult114 / 193912158
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor28 / 263845106
glioma1 / 1068839
head and neck tumor27 / 136302198
kidney tumor7 / 68959101
leukemia5 / 9584252
liver tumor26 / 96359269
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia11 / 97250113
normal345 / 3360307102
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland5 / 33197150
ascites3 / 4001574
bladder3 / 29757100
blood1 / 1234788
bone10 / 71655139
bone marrow7 / 48801143
brain167 / 1100989151
cervix2 / 4817141
connective tissue16 / 149255107
ear0 / 162120 
embryonic tissue22 / 215722101
esophagus0 / 202090 
eye11 / 21105452
heart4 / 8962644
intestine13 / 23447255
kidney18 / 21177784
larynx1 / 2414541
liver29 / 207743139
lung12 / 33697435
lymph0 / 442700 
lymph node4 / 9161043
mammary gland9 / 15327158
mouth28 / 67052417
muscle6 / 10771555
nerve0 / 157680 
ovary7 / 10205168
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta14 / 28082549
prostate12 / 18934563
salivary gland1 / 2015549
skin15 / 21057471
spleen2 / 5395237
stomach4 / 9661941
testis54 / 330442163
thymus15 / 81131184
thyroid0 / 474730 
tonsil0 / 169990 
trachea25 / 52413476
umbilical cord2 / 13680146
uterus42 / 232878180
vascular21 / 51780405
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204344_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.25
Adipocyte31.75
AdrenalCortex5.4
Adrenalgland4.95
Amygdala6
Appendix5.4
AtrioventricularNode4.7
BDCA4+_DentriticCells21.35
Bonemarrow5.15
BronchialEpithelialCells22
CD105+_Endothelial6.25
CD14+_Monocytes5.95
CD19+_BCells(neg._sel.)5.85
CD33+_Myeloid11.65
CD34+7
CD4+_Tcells10.55
CD56+_NKCells6.75
CD71+_EarlyErythroid5
CD8+_Tcells7.75
CardiacMyocytes49.55
Caudatenucleus4.9
Cerebellum4.45
CerebellumPeduncles6.4
CiliaryGanglion4.55
CingulateCortex5.5
Colorectaladenocarcinoma5.55
DorsalRootGanglion4.3
FetalThyroid5.4
Fetalbrain5.35
Fetalliver7.45
Fetallung4.1
GlobusPallidus4
Heart7.9
Hypothalamus6.7
Kidney4.55
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)4.75
Liver8.5
Lung6.75
Lymphnode3.9
Lymphoma_burkitts(Daudi)7.15
Lymphoma_burkitts(Raji)8.05
MedullaOblongata4.65
OccipitalLobe5.5
OlfactoryBulb4.2
Ovary3.8
Pancreas4.4
PancreaticIslet6
ParietalLobe5.85
Pituitary6.3
Placenta6.4
Pons5.35
PrefrontalCortex7.3
Prostate6.1
Salivarygland4.55
SkeletalMuscle6.85
Skin4.25
SmoothMuscle161.05
Spinalcord5.75
SubthalamicNucleus5.1
SuperiorCervicalGanglion6.65
TemporalLobe5.25
Testis5.1
TestisGermCell5.6
TestisIntersitial5.3
TestisLeydigCell7.2
TestisSeminiferousTubule4.7
Thalamus6.5
Thymus4.05
Thyroid6.8
Tongue5.3
Tonsil5.3
Trachea4.45
TrigeminalGanglion5.35
Uterus5.25
UterusCorpus4.9
WholeBlood7.3
Wholebrain4.6
colon7.8
pineal_day12.86
pineal_night21.84
retina21.6
small_intestine23
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P348894
  • 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
Amygdala7.21 ± 0.48
Basal Forebrain7.56 ± 0.14
Basal Part of Pons7.83 ± 0.24
Cerebellar Cortex7.37 ± 0.27
Cerebellar Nuclei7.84 ± 0.42
Claustrum7.79 ± 0.47
Epithalamus7.34 ± 0.48
Frontal Lobe7.62 ± 0.4
Globus Pallidus7.17 ± 0.25
Hypothalamus7.92 ± 0.21
Insula7.44 ± 0.31
Limbic Lobe7.7 ± 0.35
Mesencephalon7.64 ± 0.52
Myelencephalon7.59 ± 0.42
Occipital Lobe7.86 ± 0.31
Parietal Lobe7.75 ± 0.33
Pontine Tegmentum7.59 ± 0.39
Striatum8.03 ± 0.3
Subthalamus8.26 ± 0.29
Temporal Lobe7.53 ± 0.32
Thalamus7.63 ± 0.29
White Matter6.34 ± 0.59
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000783 12 68 79 AVLNPLCQVDYR Peptide Atlas
SC23A_HUMAN_2 13 2 14 TTYLEFIQQNEER PRIDE
SC23A_HUMAN_235 23 235 257 IDMNLTDLLGELQRDPWPVPQGK PRIDE
SC23A_HUMAN_236 14 236 249 IDMNLTDLLGELQR PRIDE
SC23A_HUMAN_286 22 286 307 IMMFIGGPATQGPGMVVGDELK PRIDE
SC23A_HUMAN_33 13 33 45 MVVPVAALFTPLK PRIDE
SC23A_HUMAN_34 13 34 46 MVVPVAALFTPLK PRIDE
SC23A_HUMAN_67 12 67 78 AVLNPLCQVDYR PRIDE
SC23A_HUMAN_682 17 682 698 HLLQAPVDDAQEILHSR PRIDE
SC23A_HUMAN_682 22 682 703 HLLQAPVDDAQEILHSRFPMPR 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