AutismKB 2.0

Annotation Detail for APH1B


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Basic Information Top
Gene Symbol:APH1B ( APH-1B,DKFZp564D0372,FLJ33115,PRO1328,PSFL,TAAV688 )
Gene Full Name: anterior pharynx defective 1 homolog B (C. elegans)
Band: 15q22.2
Quick LinksEntrez ID:83464; OMIM: 607630; Uniprot ID:APH1B_HUMAN; ENSEMBL ID: ENSG00000138613; HGNC ID: 24080
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 
blastocyst1 / 6231916
fetus24 / 56401242
neonate0 / 310970 
infant2 / 2362084
juvenile2 / 5555635
adult66 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor12 / 26384545
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal162 / 336030748
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone3 / 7165541
bone marrow1 / 4880120
brain56 / 110098950
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye14 / 21105466
heart2 / 8962622
intestine3 / 23447212
kidney9 / 21177742
larynx0 / 241450 
liver3 / 20774314
lung18 / 33697453
lymph0 / 442700 
lymph node5 / 9161054
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate4 / 18934521
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach0 / 966190 
testis62 / 330442187
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221036_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.85
Adipocyte4.4
AdrenalCortex4.55
Adrenalgland4.85
Amygdala4.6
Appendix4.1
AtrioventricularNode3.3
BDCA4+_DentriticCells5.5
Bonemarrow4.3
BronchialEpithelialCells4.35
CD105+_Endothelial4.55
CD14+_Monocytes9.7
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid9.25
CD34+5.9
CD4+_Tcells4.95
CD56+_NKCells5.85
CD71+_EarlyErythroid3.7
CD8+_Tcells4.3
CardiacMyocytes5.6
Caudatenucleus3.9
Cerebellum3.7
CerebellumPeduncles4.95
CiliaryGanglion3
CingulateCortex4.65
Colorectaladenocarcinoma4.2
DorsalRootGanglion4.2
FetalThyroid4.25
Fetalbrain4.35
Fetalliver3.85
Fetallung3.7
GlobusPallidus3.15
Heart5.05
Hypothalamus4.85
Kidney5
Leukemia_chronicMyelogenousK-5623.95
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.55
Liver5.75
Lung4.85
Lymphnode4.25
Lymphoma_burkitts(Daudi)5.55
Lymphoma_burkitts(Raji)6.05
MedullaOblongata4.1
OccipitalLobe4.15
OlfactoryBulb3.5
Ovary2.9
Pancreas3.5
PancreaticIslet4.7
ParietalLobe4.85
Pituitary7.2
Placenta4.6
Pons4.2
PrefrontalCortex5.5
Prostate5.25
Salivarygland3.7
SkeletalMuscle6.9
Skin3.35
SmoothMuscle5.35
Spinalcord4.5
SubthalamicNucleus4
SuperiorCervicalGanglion4.85
TemporalLobe3.8
Testis469.3
TestisGermCell290.45
TestisIntersitial452.75
TestisLeydigCell267.25
TestisSeminiferousTubule145.55
Thalamus4.2
Thymus3.5
Thyroid5.5
Tongue4.25
Tonsil4.25
Trachea3.75
TrigeminalGanglion4.25
Uterus3.3
UterusCorpus4.1
WholeBlood6.4
Wholebrain3.45
colon4.5
pineal_day6.16
pineal_night6.98
retina5.8
small_intestine4.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P205997
  • 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
Amygdala6.93 ± 0.35
Basal Forebrain7.41 ± 0.3
Basal Part of Pons6.71 ± 0.19
Cerebellar Cortex6.84 ± 0.21
Cerebellar Nuclei7.15 ± 0.41
Claustrum7.2 ± 0.35
Epithalamus7.81 ± 0.28
Frontal Lobe6.95 ± 0.32
Globus Pallidus7.86 ± 0.15
Hypothalamus7.25 ± 0.32
Insula6.92 ± 0.22
Limbic Lobe6.92 ± 0.38
Mesencephalon7.22 ± 0.21
Myelencephalon7.16 ± 0.35
Occipital Lobe7.1 ± 0.45
Parietal Lobe6.96 ± 0.37
Pontine Tegmentum7.12 ± 0.33
Striatum7.52 ± 0.42
Subthalamus7.02 ± 0.13
Temporal Lobe6.95 ± 0.25
Thalamus7.25 ± 0.24
White Matter8.21 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aph1bCBCerebellum33.49
51.7
Aph1bCTXCerebral cortex13.69
10.63
Aph1bHIPHippocampal region10.66
11.92
Aph1bHPFHippocampal formation10.91
11.13
Aph1bHYHypothalamus3.54
2.65
Aph1bLSXLateral septal complex3.07
3.14
Aph1bMBMidbrain8.71
8.22
Aph1bMYMedulla8.89
10.42
Aph1bOLFOlfactory bulb24.43
21.41
Aph1bPPons5.98
6.27
Aph1bPALPallidum4.27
3.86
Aph1bRHPRetrohippocampal region11.72
10.37
Aph1bsAMYStriatum-like amygdalar nuclei2.33
1.88
Aph1bSTRStriatum4.98
4.27
Aph1bSTRdStriatum dorsal region6.37
5.71
Aph1bSTRvStriatum ventral region2.02
1.33
Aph1bTHThalamus8.42
7.05
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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