AutismKB 2.0

Annotation Detail for AKAP1


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Basic Information Top
Gene Symbol:AKAP1 ( AKAP,AKAP121,AKAP149,AKAP84,D-AKAP1,MGC1807,PRKA1,SAKAP84 )
Gene Full Name: A kinase (PRKA) anchor protein 1
Band: 17q22
Quick LinksEntrez ID:8165; OMIM: 602449; Uniprot ID:AKAP1_HUMAN; ENSEMBL ID: ENSG00000121057; HGNC ID: 367
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 body4 / 7076156
blastocyst6 / 6231996
fetus34 / 56401260
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult167 / 193912186
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor14 / 94178148
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor18 / 114246157
esophageal tumor0 / 172900 
gastrointestinal tumor27 / 119369226
germ cell tumor16 / 26384560
glioma3 / 10688328
head and neck tumor26 / 136302190
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal240 / 336030771
ovarian tumor8 / 76682104
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer5 / 10268048
retinoblastoma5 / 46356107
skin tumor3 / 12494924
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites6 / 40015149
bladder1 / 2975733
blood3 / 12347824
bone2 / 7165527
bone marrow3 / 4880161
brain74 / 110098967
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye12 / 21105456
heart6 / 8962666
intestine40 / 234472170
kidney9 / 21177742
larynx1 / 2414541
liver11 / 20774352
lung26 / 33697477
lymph0 / 442700 
lymph node7 / 9161076
mammary gland22 / 153271143
mouth12 / 67052178
muscle10 / 10771592
nerve2 / 15768126
ovary8 / 10205178
pancreas23 / 214812107
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta7 / 28082524
prostate22 / 189345116
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach22 / 96619227
testis157 / 330442475
thymus2 / 8113124
thyroid15 / 47473315
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201675_at
Cell line Expression level Expression bar
721_B_lymphoblasts162.75
Adipocyte10.35
AdrenalCortex11.45
Adrenalgland16.6
Amygdala96.45
Appendix8
AtrioventricularNode5.75
BDCA4+_DentriticCells23.75
Bonemarrow7.5
BronchialEpithelialCells14.4
CD105+_Endothelial37.7
CD14+_Monocytes22.55
CD19+_BCells(neg._sel.)63.05
CD33+_Myeloid25.2
CD34+89.65
CD4+_Tcells55.4
CD56+_NKCells12.9
CD71+_EarlyErythroid4.75
CD8+_Tcells64.6
CardiacMyocytes8.8
Caudatenucleus52.55
Cerebellum47.8
CerebellumPeduncles21.8
CiliaryGanglion12.45
CingulateCortex25.7
Colorectaladenocarcinoma100.2
DorsalRootGanglion5.7
FetalThyroid195.6
Fetalbrain16.5
Fetalliver34.9
Fetallung39.3
GlobusPallidus9.65
Heart54.05
Hypothalamus42.15
Kidney36
Leukemia_chronicMyelogenousK-56226
Leukemia_promyelocytic-HL-6091.9
Leukemialymphoblastic(MOLT-4)44.6
Liver39.7
Lung59.1
Lymphnode12.6
Lymphoma_burkitts(Daudi)29.1
Lymphoma_burkitts(Raji)63.25
MedullaOblongata16.35
OccipitalLobe28
OlfactoryBulb13.6
Ovary12.55
Pancreas47.8
PancreaticIslet17.5
ParietalLobe17.5
Pituitary39.8
Placenta9.6
Pons14
PrefrontalCortex164.15
Prostate156
Salivarygland26.8
SkeletalMuscle26.5
Skin14.6
SmoothMuscle5.7
Spinalcord34.4
SubthalamicNucleus26.95
SuperiorCervicalGanglion8.95
TemporalLobe10.95
Testis37.8
TestisGermCell10.8
TestisIntersitial11.6
TestisLeydigCell16.05
TestisSeminiferousTubule7.05
Thalamus18.85
Thymus19.65
Thyroid271.85
Tongue77.5
Tonsil7.9
Trachea23.8
TrigeminalGanglion7.4
Uterus45.85
UterusCorpus6.25
WholeBlood10.15
Wholebrain57.6
colon219.3
pineal_day84.14
pineal_night48.64
retina101.8
small_intestine181.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14503_PI416261804
  • 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
Amygdala3.15 ± 0.82
Basal Forebrain2.98 ± 0.53
Basal Part of Pons2.74 ± 0.55
Cerebellar Cortex2.99 ± 0.7
Cerebellar Nuclei2.91 ± 0.57
Claustrum3.31 ± 0.63
Epithalamus2.92 ± 0.93
Frontal Lobe3.07 ± 0.69
Globus Pallidus2.99 ± 0.69
Hypothalamus3.12 ± 0.93
Insula2.91 ± 0.81
Limbic Lobe2.91 ± 0.69
Mesencephalon3.03 ± 0.68
Myelencephalon2.99 ± 0.67
Occipital Lobe2.88 ± 0.62
Parietal Lobe2.87 ± 0.6
Pontine Tegmentum3 ± 0.63
Striatum3.21 ± 0.67
Subthalamus2.96 ± 1.05
Temporal Lobe3.08 ± 0.56
Thalamus3.04 ± 0.5
White Matter2.62 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Akap1CBCerebellum8.14
7.01
Akap1CTXCerebral cortex31.22
11.79
Akap1HIPHippocampal region14.52
10.05
Akap1HPFHippocampal formation22.33
11.71
Akap1HYHypothalamus4.23
1.28
Akap1LSXLateral septal complex5.67
2.23
Akap1MBMidbrain4.75
2.48
Akap1MYMedulla13.47
8.36
Akap1OLFOlfactory bulb29.84
11.89
Akap1PPons11.33
5.16
Akap1PALPallidum12.89
4.99
Akap1RHPRetrohippocampal region36.49
14.66
Akap1sAMYStriatum-like amygdalar nuclei15.79
4.05
Akap1STRStriatum34.93
10.9
Akap1STRdStriatum dorsal region38.1
11.86
Akap1STRvStriatum ventral region46.98
14.65
Akap1THThalamus14.74
6.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AKAP1_HUMAN_174 17 174 190 VPRKVQPGYPVVPAEKR PRIDE
AKAP1_HUMAN_346 24 346 369 AAFQIISQVISEATEQVLATTVGK PRIDE
PAp00000263 17 50 66 ADPAIKEPLPVEDVCPK 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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