AutismKB 2.0

Annotation Detail for AP4M1


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Basic Information Top
Gene Symbol:AP4M1 ( CPSQ3,MU-4,MU-ARP2 )
Gene Full Name: adaptor-related protein complex 4, mu 1 subunit
Band: 7q22.1
Quick LinksEntrez ID:9179; OMIM: 602296; Uniprot ID:AP4M1_HUMAN; ENSEMBL ID: ENSG00000221838; HGNC ID: 574
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
blastocyst3 / 6231948
fetus24 / 56401242
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult63 / 193912132
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) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor4 / 10312738
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal135 / 336030740
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone3 / 7165541
bone marrow0 / 488010 
brain61 / 110098955
cervix2 / 4817141
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye4 / 21105418
heart4 / 8962644
intestine11 / 23447246
kidney2 / 2117779
larynx0 / 241450 
liver10 / 20774348
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland8 / 15327152
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary4 / 10205139
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate8 / 18934542
salivary gland2 / 2015599
skin0 / 2105740 
spleen3 / 5395255
stomach3 / 9661931
testis14 / 33044242
thymus2 / 8113124
thyroid0 / 474730 
tonsil2 / 16999117
trachea2 / 5241338
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209837_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.9
Adipocyte3.8
AdrenalCortex3.95
Adrenalgland3.25
Amygdala4.1
Appendix3.85
AtrioventricularNode2.8
BDCA4+_DentriticCells4.35
Bonemarrow3.8
BronchialEpithelialCells3.85
CD105+_Endothelial3.9
CD14+_Monocytes4.1
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid5
CD34+5.15
CD4+_Tcells4.15
CD56+_NKCells4.6
CD71+_EarlyErythroid3.55
CD8+_Tcells3.75
CardiacMyocytes4.8
Caudatenucleus3.5
Cerebellum3.1
CerebellumPeduncles4.4
CiliaryGanglion2.65
CingulateCortex3.95
Colorectaladenocarcinoma3.95
DorsalRootGanglion2.9
FetalThyroid3.7
Fetalbrain4.05
Fetalliver3.3
Fetallung3.25
GlobusPallidus2.8
Heart4.85
Hypothalamus4.3
Kidney3.1
Leukemia_chronicMyelogenousK-5623.5
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.6
Liver5.1
Lung4.35
Lymphnode3.35
Lymphoma_burkitts(Daudi)4.9
Lymphoma_burkitts(Raji)5.35
MedullaOblongata3.55
OccipitalLobe3.45
OlfactoryBulb3.05
Ovary2.55
Pancreas3.1
PancreaticIslet4.1
ParietalLobe4.05
Pituitary5.1
Placenta4.05
Pons3.9
PrefrontalCortex4.85
Prostate4.5
Salivarygland3.05
SkeletalMuscle4.45
Skin2.85
SmoothMuscle4.45
Spinalcord5.05
SubthalamicNucleus4.4
SuperiorCervicalGanglion4.25
TemporalLobe3.5
Testis4.4
TestisGermCell5.15
TestisIntersitial3.45
TestisLeydigCell4.9
TestisSeminiferousTubule5.55
Thalamus4.15
Thymus3.05
Thyroid4.9
Tongue3.7
Tonsil3.7
Trachea3.2
TrigeminalGanglion3.75
Uterus3.4
UterusCorpus4.95
WholeBlood4.25
Wholebrain5.1
colon3.85
pineal_day4.82
pineal_night4.76
retina4.675
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P157051
  • 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
Amygdala3.95 ± 0.76
Basal Forebrain3.48 ± 0.68
Basal Part of Pons4.19 ± 0.62
Cerebellar Cortex4.22 ± 0.4
Cerebellar Nuclei3.7 ± 0.48
Claustrum3.38 ± 0.82
Epithalamus4.42 ± 0.57
Frontal Lobe3.96 ± 0.57
Globus Pallidus3.54 ± 0.42
Hypothalamus3.67 ± 0.47
Insula4.02 ± 0.43
Limbic Lobe3.63 ± 0.71
Mesencephalon3.76 ± 0.54
Myelencephalon3.88 ± 0.66
Occipital Lobe3.53 ± 0.65
Parietal Lobe3.77 ± 0.56
Pontine Tegmentum3.61 ± 0.6
Striatum3.19 ± 0.7
Subthalamus3.7 ± 0.33
Temporal Lobe3.96 ± 0.58
Thalamus3.68 ± 0.57
White Matter4.35 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap4m1CBCerebellum0.36
0.5
Ap4m1CTXCerebral cortex3.05
2.28
Ap4m1HPFHippocampal formation7.2
6.74
Ap4m1LSXLateral septal complex15.8
11.71
Ap4m1MBMidbrain0.47
0.63
Ap4m1MYMedulla0.63
1.23
Ap4m1PALPallidum11.36
9.33
Ap4m1RHPRetrohippocampal region5.75
4.44
Ap4m1sAMYStriatum-like amygdalar nuclei3.97
2.96
Ap4m1STRdStriatum dorsal region1.68
1.29
Ap4m1THThalamus5.44
5.2
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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