AutismKB 2.0

Annotation Detail for GAK


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Basic Information Top
Gene Symbol:GAK ( FLJ16629,FLJ40395,MGC99654 )
Gene Full Name: cyclin G associated kinase
Band: 4p16.3
Quick LinksEntrez ID:2580; OMIM: 602052; Uniprot ID:GAK_HUMAN; ENSEMBL ID: ENSG00000178950; HGNC ID: 4113
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
fetus27 / 56401247
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult135 / 193912169
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor16 / 114246140
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor15 / 26384556
glioma9 / 10688384
head and neck tumor11 / 13630280
kidney tumor6 / 6895987
leukemia11 / 95842114
liver tumor0 / 963590 
lung tumor7 / 10312767
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal191 / 336030756
ovarian tumor10 / 76682130
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer6 / 10268058
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites4 / 4001599
bladder2 / 2975767
blood12 / 12347897
bone4 / 7165555
bone marrow0 / 488010 
brain82 / 110098974
cervix2 / 4817141
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye9 / 21105442
heart2 / 8962622
intestine32 / 234472136
kidney13 / 21177761
larynx0 / 241450 
liver4 / 20774319
lung25 / 33697474
lymph1 / 4427022
lymph node13 / 91610141
mammary gland9 / 15327158
mouth4 / 6705259
muscle4 / 10771537
nerve2 / 15768126
ovary14 / 102051137
pancreas10 / 21481246
parathyroid5 / 20539243
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta23 / 28082581
prostate10 / 18934552
salivary gland6 / 20155297
skin9 / 21057442
spleen2 / 5395237
stomach4 / 9661941
testis29 / 33044287
thymus10 / 81131123
thyroid2 / 4747342
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202281_at
Cell line Expression level Expression bar
721_B_lymphoblasts43
Adipocyte17.3
AdrenalCortex39.15
Adrenalgland28.75
Amygdala44.05
Appendix22.4
AtrioventricularNode11.4
BDCA4+_DentriticCells98.15
Bonemarrow25.95
BronchialEpithelialCells34.95
CD105+_Endothelial43.3
CD14+_Monocytes103.5
CD19+_BCells(neg._sel.)44
CD33+_Myeloid78.85
CD34+68.55
CD4+_Tcells96.15
CD56+_NKCells102.45
CD71+_EarlyErythroid33
CD8+_Tcells109.35
CardiacMyocytes29.85
Caudatenucleus32.1
Cerebellum27.35
CerebellumPeduncles38.7
CiliaryGanglion15.35
CingulateCortex36.35
Colorectaladenocarcinoma37.8
DorsalRootGanglion14.95
FetalThyroid39.95
Fetalbrain35.85
Fetalliver16.55
Fetallung33.55
GlobusPallidus15.5
Heart34.9
Hypothalamus41.65
Kidney29.5
Leukemia_chronicMyelogenousK-56230.35
Leukemia_promyelocytic-HL-6032.55
Leukemialymphoblastic(MOLT-4)57.85
Liver31.5
Lung61.9
Lymphnode53.65
Lymphoma_burkitts(Daudi)45.45
Lymphoma_burkitts(Raji)143.95
MedullaOblongata28.45
OccipitalLobe25.45
OlfactoryBulb28.7
Ovary14.95
Pancreas23.65
PancreaticIslet43.3
ParietalLobe21.65
Pituitary19.1
Placenta40.6
Pons23.35
PrefrontalCortex51.25
Prostate55.8
Salivarygland44.1
SkeletalMuscle32.3
Skin16.9
SmoothMuscle32.55
Spinalcord38.1
SubthalamicNucleus25.15
SuperiorCervicalGanglion25
TemporalLobe23.75
Testis72.6
TestisGermCell52.7
TestisIntersitial65.2
TestisLeydigCell44.15
TestisSeminiferousTubule60.1
Thalamus27.7
Thymus43.05
Thyroid47.65
Tongue34.4
Tonsil34.75
Trachea30.15
TrigeminalGanglion26.1
Uterus44.05
UterusCorpus28.15
WholeBlood39.55
Wholebrain33.9
colon31.3
pineal_day47.08
pineal_night44.36
retina34.65
small_intestine29.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P155700
  • 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
Amygdala5.05 ± 0.42
Basal Forebrain4.98 ± 0.46
Basal Part of Pons5.62 ± 0.37
Cerebellar Cortex5.58 ± 0.43
Cerebellar Nuclei5.07 ± 0.47
Claustrum5.01 ± 0.71
Epithalamus5.19 ± 0.6
Frontal Lobe5.43 ± 0.46
Globus Pallidus4.78 ± 0.27
Hypothalamus5.23 ± 0.47
Insula5.45 ± 0.42
Limbic Lobe5.3 ± 0.44
Mesencephalon5.24 ± 0.41
Myelencephalon5.28 ± 0.52
Occipital Lobe5 ± 0.45
Parietal Lobe5.27 ± 0.41
Pontine Tegmentum5.23 ± 0.55
Striatum5.02 ± 0.46
Subthalamus5.48 ± 0.29
Temporal Lobe5.49 ± 0.42
Thalamus5.28 ± 0.47
White Matter4.98 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GakCBCerebellum100
100
GakCTXCerebral cortex100
100
GakHIPHippocampal region100
100
GakHPFHippocampal formation100
100
GakHYHypothalamus100
100
GakLSXLateral septal complex100
100
GakMBMidbrain100
100
GakMYMedulla100
100
GakOLFOlfactory bulb100
100
GakPPons86.96
100
GakPALPallidum95.32
100
GakRHPRetrohippocampal region100
100
GaksAMYStriatum-like amygdalar nuclei100
100
GakSTRStriatum100
100
GakSTRdStriatum dorsal region100
100
GakSTRvStriatum ventral region100
100
GakTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GAK_HUMAN_0 0 0 0 LSIAEVVHQLQEIAAAR PRIDE
GAK_HUMAN_165 8 165 172 QKPPIIHR PRIDE
GAK_HUMAN_498 10 498 507 QDHKNVCVVH PRIDE
PAp00039320 19 1141 1159 ACTQPRPNYASNFSVIGAR 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