AutismKB 2.0

Annotation Detail for SEMA5A


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Basic Information Top
Gene Symbol:SEMA5A ( FLJ12815,SEMAF,semF )
Gene Full Name: sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
Band: 5p15.31
Quick LinksEntrez ID:9037; OMIM: 609297; Uniprot ID:SEM5A_HUMAN; ENSEMBL ID: ENSG00000112902; HGNC ID: 10736
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 body10 / 70761141
blastocyst2 / 6231932
fetus51 / 56401290
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult94 / 193912148
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 
chondrosarcoma9 / 82823108
colorectal tumor2 / 11424617
esophageal tumor2 / 17290115
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma10 / 10688393
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal188 / 336030755
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood1 / 1234788
bone8 / 71655111
bone marrow1 / 4880120
brain50 / 110098945
cervix0 / 481710 
connective tissue3 / 14925520
ear5 / 16212308
embryonic tissue19 / 21572288
esophagus2 / 2020998
eye16 / 21105475
heart10 / 89626111
intestine3 / 23447212
kidney10 / 21177747
larynx1 / 2414541
liver0 / 2077430 
lung10 / 33697429
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth2 / 6705229
muscle3 / 10771527
nerve1 / 1576863
ovary5 / 10205148
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta7 / 28082524
prostate3 / 18934515
salivary gland0 / 201550 
skin11 / 21057452
spleen1 / 5395218
stomach1 / 9661910
testis13 / 33044239
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus18 / 23287877
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205405_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte5.55
AdrenalCortex4.9
Adrenalgland3.9
Amygdala6
Appendix4.65
AtrioventricularNode3.55
BDCA4+_DentriticCells5.25
Bonemarrow4.55
BronchialEpithelialCells4.6
CD105+_Endothelial4.55
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.75
CD33+_Myeloid5.4
CD34+5.95
CD4+_Tcells4.7
CD56+_NKCells5.45
CD71+_EarlyErythroid4.3
CD8+_Tcells4.25
CardiacMyocytes10.95
Caudatenucleus4.15
Cerebellum3.75
CerebellumPeduncles5.25
CiliaryGanglion3.2
CingulateCortex5.1
Colorectaladenocarcinoma4.4
DorsalRootGanglion3.5
FetalThyroid4.5
Fetalbrain4.85
Fetalliver4.05
Fetallung3.9
GlobusPallidus3.4
Heart5.9
Hypothalamus5.25
Kidney6.9
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.7
Liver6.35
Lung5.15
Lymphnode5.75
Lymphoma_burkitts(Daudi)5.85
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4.25
OccipitalLobe4.8
OlfactoryBulb44.95
Ovary3.05
Pancreas4
PancreaticIslet4.9
ParietalLobe6.15
Pituitary5.4
Placenta4.85
Pons4.4
PrefrontalCortex5.85
Prostate5.45
Salivarygland3.65
SkeletalMuscle5.3
Skin3.55
SmoothMuscle6.5
Spinalcord6.2
SubthalamicNucleus4.2
SuperiorCervicalGanglion5.2
TemporalLobe4.25
Testis3.95
TestisGermCell3.85
TestisIntersitial3.8
TestisLeydigCell4.55
TestisSeminiferousTubule3.95
Thalamus5.05
Thymus3.7
Thyroid5.6
Tongue4.55
Tonsil4.5
Trachea6.2
TrigeminalGanglion4.75
Uterus4.2
UterusCorpus4.1
WholeBlood5.15
Wholebrain3.95
colon4.7
pineal_day5.8
pineal_night5.56
retina5.85
small_intestine4.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P912799
  • 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
Amygdala6.14 ± 0.58
Basal Forebrain6.11 ± 0.44
Basal Part of Pons4.76 ± 0.5
Cerebellar Cortex5 ± 0.61
Cerebellar Nuclei5.67 ± 0.42
Claustrum5.45 ± 0.8
Epithalamus4.95 ± 0.63
Frontal Lobe5.81 ± 0.52
Globus Pallidus6.59 ± 0.43
Hypothalamus5.69 ± 0.82
Insula5.85 ± 0.36
Limbic Lobe5.96 ± 1.06
Mesencephalon5.67 ± 0.65
Myelencephalon5.59 ± 0.59
Occipital Lobe5.76 ± 0.92
Parietal Lobe5.55 ± 0.59
Pontine Tegmentum5.93 ± 0.59
Striatum5.73 ± 0.62
Subthalamus5.46 ± 0.38
Temporal Lobe5.39 ± 0.52
Thalamus5.8 ± 0.37
White Matter6.66 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sema5aCBCerebellum0.2
0.5
Sema5aCTXCerebral cortex0.28
0.33
Sema5aHIPHippocampal region12.77
9.73
Sema5aHPFHippocampal formation7.47
5.25
Sema5aHYHypothalamus0.33
0.38
Sema5aLSXLateral septal complex0.83
0.58
Sema5aMBMidbrain0.41
0.42
Sema5aMYMedulla0.37
0.35
Sema5aOLFOlfactory bulb0.3
0.22
Sema5aPPons0.4
0.36
Sema5aPALPallidum0.44
0.41
Sema5aRHPRetrohippocampal region0.53
0.39
Sema5asAMYStriatum-like amygdalar nuclei0.41
0.26
Sema5aSTRStriatum0.18
0.15
Sema5aSTRdStriatum dorsal region0.08
0.09
Sema5aSTRvStriatum ventral region0.16
0.14
Sema5aTHThalamus0.78
0.69
Peptide Top

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