AutismKB 2.0

Annotation Detail for AKAP8L


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Basic Information Top
Gene Symbol:AKAP8L ( DKFZp434L0650,HA95,HAP95,NAKAP,NAKAP95 )
Gene Full Name: A kinase (PRKA) anchor protein 8-like
Band: 19p13.12
Quick LinksEntrez ID:26993; OMIM: 609475; Uniprot ID:AKP8L_HUMAN; ENSEMBL ID: ENSG00000011243; HGNC ID: 29857
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
blastocyst2 / 6231932
fetus91 / 564012161
neonate2 / 3109764
infant4 / 23620169
juvenile7 / 55556125
adult212 / 1939121109
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor10 / 94178106
cervical tumor4 / 34366116
chondrosarcoma10 / 82823120
colorectal tumor14 / 114246122
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor70 / 263845265
glioma7 / 10688365
head and neck tumor15 / 136302110
kidney tumor5 / 6895972
leukemia10 / 95842104
liver tumor8 / 9635983
lung tumor13 / 103127126
lymphoma6 / 7175583
non-neoplasia18 / 97250185
normal722 / 3360307214
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer2 / 10268019
retinoblastoma11 / 46356237
skin tumor17 / 124949136
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland11 / 33197331
ascites11 / 40015274
bladder1 / 2975733
blood14 / 123478113
bone2 / 7165527
bone marrow6 / 48801122
brain446 / 1100989405
cervix4 / 4817183
connective tissue20 / 149255133
ear1 / 1621261
embryonic tissue17 / 21572278
esophagus3 / 20209148
eye60 / 211054284
heart6 / 8962666
intestine34 / 234472145
kidney24 / 211777113
larynx1 / 2414541
liver11 / 20774352
lung37 / 336974109
lymph6 / 44270135
lymph node0 / 916100 
mammary gland16 / 153271104
mouth9 / 67052134
muscle6 / 10771555
nerve0 / 157680 
ovary12 / 102051117
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta32 / 280825113
prostate11 / 18934558
salivary gland0 / 201550 
skin23 / 210574109
spleen24 / 53952444
stomach5 / 9661951
testis87 / 330442263
thymus92 / 811311133
thyroid8 / 47473168
tonsil7 / 16999411
trachea14 / 52413267
umbilical cord0 / 136800 
uterus48 / 232878206
vascular10 / 51780193
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218064_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts79.5
Adipocyte17.65
AdrenalCortex38.35
Adrenalgland31.25
Amygdala80.95
Appendix25.5
AtrioventricularNode27.95
BDCA4+_DentriticCells73.45
Bonemarrow36.1
BronchialEpithelialCells36.65
CD105+_Endothelial59.9
CD14+_Monocytes39.65
CD19+_BCells(neg._sel.)64.15
CD33+_Myeloid59.7
CD34+51.05
CD4+_Tcells108.8
CD56+_NKCells76.55
CD71+_EarlyErythroid637.65
CD8+_Tcells96.05
CardiacMyocytes40.5
Caudatenucleus33.6
Cerebellum35.05
CerebellumPeduncles46.3
CiliaryGanglion22.55
CingulateCortex37.15
Colorectaladenocarcinoma43.5
DorsalRootGanglion24.45
FetalThyroid39.8
Fetalbrain87.05
Fetalliver33.85
Fetallung45.8
GlobusPallidus26.35
Heart48
Hypothalamus46.25
Kidney26.75
Leukemia_chronicMyelogenousK-56234
Leukemia_promyelocytic-HL-6026.65
Leukemialymphoblastic(MOLT-4)43.6
Liver42.7
Lung94.8
Lymphnode43.15
Lymphoma_burkitts(Daudi)45.8
Lymphoma_burkitts(Raji)171.9
MedullaOblongata29.95
OccipitalLobe27.3
OlfactoryBulb29.4
Ovary23.5
Pancreas29.75
PancreaticIslet31.65
ParietalLobe38.6
Pituitary39.6
Placenta34.6
Pons30.65
PrefrontalCortex149.35
Prostate100.8
Salivarygland18.65
SkeletalMuscle42.05
Skin20.35
SmoothMuscle28.6
Spinalcord39.35
SubthalamicNucleus33.5
SuperiorCervicalGanglion25.8
TemporalLobe27.2
Testis50.7
TestisGermCell57.8
TestisIntersitial30.95
TestisLeydigCell27.15
TestisSeminiferousTubule36.65
Thalamus32.15
Thymus43.6
Thyroid134.15
Tongue22.3
Tonsil28.8
Trachea19.55
TrigeminalGanglion26.25
Uterus37
UterusCorpus32.9
WholeBlood41.75
Wholebrain51.6
colon29.7
pineal_day110.86
pineal_night120.06
retina46.625
small_intestine21.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6754_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
Amygdala5.5 ± 0.47
Basal Forebrain5.24 ± 0.21
Basal Part of Pons5.58 ± 0.42
Cerebellar Cortex5.95 ± 0.4
Cerebellar Nuclei5.04 ± 0.55
Claustrum4.9 ± 0.89
Epithalamus5.32 ± 0.49
Frontal Lobe5.48 ± 0.57
Globus Pallidus5.15 ± 0.35
Hypothalamus4.9 ± 0.43
Insula5.69 ± 0.18
Limbic Lobe5.49 ± 0.58
Mesencephalon5.35 ± 0.57
Myelencephalon5.37 ± 0.51
Occipital Lobe5.32 ± 0.53
Parietal Lobe5.51 ± 0.48
Pontine Tegmentum5.49 ± 0.59
Striatum5.2 ± 0.51
Subthalamus4.78 ± 0.31
Temporal Lobe5.55 ± 0.37
Thalamus5.24 ± 0.6
White Matter5.84 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Akap8lCBCerebellum100
100
Akap8lCTXCerebral cortex100
100
Akap8lHIPHippocampal region100
100
Akap8lHPFHippocampal formation100
100
Akap8lHYHypothalamus100
100
Akap8lLSXLateral septal complex100
100
Akap8lMBMidbrain100
100
Akap8lMYMedulla100
100
Akap8lOLFOlfactory bulb100
100
Akap8lPPons100
100
Akap8lPALPallidum100
100
Akap8lRHPRetrohippocampal region100
100
Akap8lsAMYStriatum-like amygdalar nuclei100
100
Akap8lSTRStriatum100
100
Akap8lSTRdStriatum dorsal region100
100
Akap8lSTRvStriatum ventral region100
100
Akap8lTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00065344 15 463 477 DQDLTQEIAMEHFVK 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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