AutismKB 2.0

Annotation Detail for AMPH


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Basic Information Top
Gene Symbol:AMPH ( AMPH1 )
Gene Full Name: amphiphysin
Band: 7p14.1
Quick LinksEntrez ID:273; OMIM: 600418; Uniprot ID:AMPH_HUMAN; ENSEMBL ID: ENSG00000078053; HGNC ID: 471
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 body1 / 7076114
blastocyst1 / 6231916
fetus30 / 56401253
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult41 / 193912121
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor12 / 26384545
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal218 / 336030764
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain174 / 1100989158
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye8 / 21105437
heart3 / 8962633
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205257_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.05
Adipocyte4.25
AdrenalCortex3.5
Adrenalgland2.85
Amygdala147.8
Appendix5.6
AtrioventricularNode3.7
BDCA4+_DentriticCells3.55
Bonemarrow3.3
BronchialEpithelialCells3.25
CD105+_Endothelial3.35
CD14+_Monocytes3.5
CD19+_BCells(neg._sel.)3.55
CD33+_Myeloid4.3
CD34+4.2
CD4+_Tcells3.65
CD56+_NKCells3.95
CD71+_EarlyErythroid3.25
CD8+_Tcells3.2
CardiacMyocytes4.35
Caudatenucleus9.55
Cerebellum179.2
CerebellumPeduncles118.05
CiliaryGanglion2.8
CingulateCortex74.5
Colorectaladenocarcinoma3.4
DorsalRootGanglion4.35
FetalThyroid3.25
Fetalbrain69.55
Fetalliver2.9
Fetallung2.8
GlobusPallidus59.05
Heart4.35
Hypothalamus81.5
Kidney2.75
Leukemia_chronicMyelogenousK-5622.95
Leukemia_promyelocytic-HL-602.9
Leukemialymphoblastic(MOLT-4)2.65
Liver4.4
Lung3.7
Lymphnode2.9
Lymphoma_burkitts(Daudi)4.25
Lymphoma_burkitts(Raji)4.75
MedullaOblongata113.7
OccipitalLobe103.1
OlfactoryBulb2.7
Ovary2.25
Pancreas2.7
PancreaticIslet3.6
ParietalLobe104.3
Pituitary109.9
Placenta3.45
Pons65.95
PrefrontalCortex190.35
Prostate3.95
Salivarygland2.8
SkeletalMuscle3.9
Skin2.65
SmoothMuscle3.75
Spinalcord13.05
SubthalamicNucleus182.25
SuperiorCervicalGanglion3.85
TemporalLobe133.7
Testis2.95
TestisGermCell3
TestisIntersitial2.85
TestisLeydigCell3.35
TestisSeminiferousTubule3
Thalamus104.7
Thymus2.6
Thyroid4.15
Tongue3.35
Tonsil3.25
Trachea2.8
TrigeminalGanglion3.9
Uterus2.8
UterusCorpus6
WholeBlood3.7
Wholebrain317.75
colon3.35
pineal_day135.9
pineal_night90.3
retina15.55
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P218048
  • 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
Amygdala7.59 ± 0.65
Basal Forebrain6.69 ± 0.25
Basal Part of Pons8.7 ± 0.24
Cerebellar Cortex8.05 ± 0.13
Cerebellar Nuclei7.21 ± 0.64
Claustrum7.51 ± 0.26
Epithalamus6.47 ± 0.94
Frontal Lobe7.73 ± 0.39
Globus Pallidus6.22 ± 0.73
Hypothalamus7.65 ± 0.63
Insula7.87 ± 0.28
Limbic Lobe7.88 ± 0.66
Mesencephalon7.3 ± 0.77
Myelencephalon7.43 ± 0.9
Occipital Lobe7.29 ± 0.8
Parietal Lobe7.78 ± 0.49
Pontine Tegmentum7.37 ± 0.47
Striatum5.82 ± 0.71
Subthalamus8.24 ± 0.35
Temporal Lobe7.87 ± 0.36
Thalamus7.55 ± 0.43
White Matter4.85 ± 0.95
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AmphCBCerebellum95.75
100
AmphCTXCerebral cortex100
100
AmphHIPHippocampal region100
100
AmphHPFHippocampal formation100
100
AmphHYHypothalamus68.08
77.76
AmphLSXLateral septal complex67.38
59.32
AmphMBMidbrain80.07
100
AmphMYMedulla76.64
100
AmphOLFOlfactory bulb100
100
AmphPPons78.04
100
AmphPALPallidum62.09
83.25
AmphRHPRetrohippocampal region100
100
AmphsAMYStriatum-like amygdalar nuclei63.76
71.09
AmphSTRStriatum36.17
40.12
AmphSTRdStriatum dorsal region27.32
32.06
AmphSTRvStriatum ventral region36.54
38.03
AmphTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AMPH_HUMAN_161 14 161 174 DESRISKAEEEFQK PRIDE
PAp00489878 9 141 149 KLVDYDSAR 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


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