AutismKB 2.0

Annotation Detail for APH1A


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Basic Information Top
Gene Symbol:APH1A ( 6530402N02Rik,APH-1,APH-1A,CGI-78 )
Gene Full Name: anterior pharynx defective 1 homolog A (C. elegans)
Band: 1q21.2
Quick LinksEntrez ID:51107; OMIM: 607629; Uniprot ID:APH1A_HUMAN; ENSEMBL ID: ENSG00000117362; HGNC ID: 29509
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 body5 / 7076170
blastocyst6 / 6231996
fetus87 / 564012154
neonate8 / 31097257
infant12 / 23620508
juvenile15 / 55556269
adult319 / 1939121164
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor35 / 94178371
cervical tumor11 / 34366320
chondrosarcoma9 / 82823108
colorectal tumor23 / 114246201
esophageal tumor3 / 17290173
gastrointestinal tumor35 / 119369293
germ cell tumor55 / 263845208
glioma21 / 106883196
head and neck tumor10 / 13630273
kidney tumor6 / 6895987
leukemia26 / 95842271
liver tumor10 / 96359103
lung tumor23 / 103127223
lymphoma6 / 7175583
non-neoplasia26 / 97250267
normal474 / 3360307141
ovarian tumor17 / 76682221
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS51 / 125680405
prostate cancer14 / 102680136
retinoblastoma9 / 46356194
skin tumor19 / 124949152
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites11 / 40015274
bladder8 / 29757268
blood38 / 123478307
bone8 / 71655111
bone marrow9 / 48801184
brain153 / 1100989138
cervix21 / 48171435
connective tissue20 / 149255133
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus4 / 20209197
eye28 / 211054132
heart13 / 89626145
intestine63 / 234472268
kidney31 / 211777146
larynx4 / 24145165
liver20 / 20774396
lung59 / 336974175
lymph3 / 4427067
lymph node1 / 9161010
mammary gland44 / 153271287
mouth5 / 6705274
muscle7 / 10771564
nerve1 / 1576863
ovary20 / 102051195
pancreas12 / 21481255
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta61 / 280825217
prostate31 / 189345163
salivary gland0 / 201550 
skin43 / 210574204
spleen11 / 53952203
stomach22 / 96619227
testis45 / 330442136
thymus24 / 81131295
thyroid9 / 47473189
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord1 / 1368073
uterus35 / 232878150
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218389_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts471
Adipocyte114.45
AdrenalCortex129.9
Adrenalgland150.5
Amygdala104.85
Appendix113.65
AtrioventricularNode98.45
BDCA4+_DentriticCells444.65
Bonemarrow119.6
BronchialEpithelialCells395
CD105+_Endothelial123.8
CD14+_Monocytes346.1
CD19+_BCells(neg._sel.)844.45
CD33+_Myeloid531.25
CD34+344.1
CD4+_Tcells163.55
CD56+_NKCells603.45
CD71+_EarlyErythroid100.15
CD8+_Tcells125.2
CardiacMyocytes144.9
Caudatenucleus103.05
Cerebellum101.6
CerebellumPeduncles123
CiliaryGanglion79.5
CingulateCortex93.85
Colorectaladenocarcinoma156.9
DorsalRootGanglion83.35
FetalThyroid194.8
Fetalbrain108.4
Fetalliver143.45
Fetallung172.1
GlobusPallidus81.65
Heart574.4
Hypothalamus136.9
Kidney152.9
Leukemia_chronicMyelogenousK-562155.1
Leukemia_promyelocytic-HL-60144.85
Leukemialymphoblastic(MOLT-4)191.65
Liver466.8
Lung976.25
Lymphnode137.95
Lymphoma_burkitts(Daudi)161.9
Lymphoma_burkitts(Raji)173
MedullaOblongata109.55
OccipitalLobe81.7
OlfactoryBulb90.45
Ovary81.65
Pancreas131.2
PancreaticIslet114.55
ParietalLobe110.85
Pituitary147.55
Placenta231.95
Pons103.75
PrefrontalCortex160.4
Prostate566.1
Salivarygland93.85
SkeletalMuscle131.4
Skin87.7
SmoothMuscle125.6
Spinalcord127.95
SubthalamicNucleus83.7
SuperiorCervicalGanglion131.55
TemporalLobe92.3
Testis103.45
TestisGermCell78.95
TestisIntersitial67.9
TestisLeydigCell108.05
TestisSeminiferousTubule90.5
Thalamus114.2
Thymus190.05
Thyroid590.45
Tongue125.7
Tonsil118.5
Trachea133.7
TrigeminalGanglion110
Uterus115.7
UterusCorpus108
WholeBlood428.8
Wholebrain118.7
colon333.5
pineal_day129.44
pineal_night116.62
retina228.85
small_intestine366.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P12329
  • 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
Amygdala4.66 ± 0.91
Basal Forebrain4.75 ± 0.35
Basal Part of Pons4.59 ± 0.53
Cerebellar Cortex4.62 ± 0.43
Cerebellar Nuclei4.72 ± 0.49
Claustrum4.07 ± 0.71
Epithalamus4.94 ± 0.25
Frontal Lobe4.71 ± 0.48
Globus Pallidus5.27 ± 0.37
Hypothalamus4.58 ± 0.5
Insula4.94 ± 0.49
Limbic Lobe4.47 ± 0.42
Mesencephalon4.81 ± 0.46
Myelencephalon4.76 ± 0.44
Occipital Lobe4.6 ± 0.48
Parietal Lobe4.72 ± 0.51
Pontine Tegmentum4.82 ± 0.46
Striatum4.97 ± 0.37
Subthalamus4.66 ± 0.37
Temporal Lobe4.7 ± 0.41
Thalamus4.97 ± 0.36
White Matter5.44 ± 0.08
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aph1aCBCerebellum3.46
2.57
Aph1aCTXCerebral cortex4.12
2.48
Aph1aHIPHippocampal region14.42
6.76
Aph1aHPFHippocampal formation9.94
4.91
Aph1aHYHypothalamus1.05
0.7
Aph1aLSXLateral septal complex0.45
0.47
Aph1aMBMidbrain1.32
1.13
Aph1aMYMedulla3.42
2.22
Aph1aOLFOlfactory bulb4.44
3.07
Aph1aPPons1.99
1.46
Aph1aPALPallidum0.56
0.46
Aph1aRHPRetrohippocampal region4.67
2.87
Aph1asAMYStriatum-like amygdalar nuclei0.56
0.55
Aph1aSTRStriatum0.79
0.63
Aph1aSTRdStriatum dorsal region0.94
0.75
Aph1aSTRvStriatum ventral region0.53
0.35
Aph1aTHThalamus3.43
2.27
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


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