AutismKB 2.0

Annotation Detail for MAK


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Basic Information Top
Gene Symbol:MAK ( dJ417M14.2 )
Gene Full Name: male germ cell-associated kinase
Band: 6p24.2
Quick LinksEntrez ID:4117; OMIM: 154235; Uniprot ID:MAK_HUMAN; ENSEMBL ID: ENSG00000111837; HGNC ID: 6816
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 body0 / 707610 
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult31 / 193912115
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal55 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
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 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye19 / 21105490
heart0 / 896260 
intestine3 / 23447212
kidney4 / 21177718
larynx1 / 2414541
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis15 / 33044245
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220302_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.5
Adipocyte4.55
AdrenalCortex5.4
Adrenalgland4
Amygdala4.65
Appendix9.5
AtrioventricularNode3.95
BDCA4+_DentriticCells5
Bonemarrow4.9
BronchialEpithelialCells4.45
CD105+_Endothelial4.65
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid6
CD34+7.05
CD4+_Tcells5.05
CD56+_NKCells5.5
CD71+_EarlyErythroid4.4
CD8+_Tcells4.3
CardiacMyocytes6.65
Caudatenucleus4.15
Cerebellum3.8
CerebellumPeduncles5.5
CiliaryGanglion3.7
CingulateCortex4.9
Colorectaladenocarcinoma4.7
DorsalRootGanglion3.85
FetalThyroid4.6
Fetalbrain4.55
Fetalliver4.15
Fetallung3.8
GlobusPallidus3.6
Heart6.35
Hypothalamus5
Kidney4
Leukemia_chronicMyelogenousK-5624.3
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.8
Liver6.45
Lung5.1
Lymphnode3.95
Lymphoma_burkitts(Daudi)6.05
Lymphoma_burkitts(Raji)6.7
MedullaOblongata4.2
OccipitalLobe4.15
OlfactoryBulb3.6
Ovary3.15
Pancreas3.9
PancreaticIslet5
ParietalLobe5.05
Pituitary5.5
Placenta4.6
Pons4.5
PrefrontalCortex5.7
Prostate6
Salivarygland3.8
SkeletalMuscle5.85
Skin4.1
SmoothMuscle5.25
Spinalcord5.05
SubthalamicNucleus4.35
SuperiorCervicalGanglion5.5
TemporalLobe4.3
Testis4.1
TestisGermCell4.25
TestisIntersitial4.05
TestisLeydigCell4.7
TestisSeminiferousTubule4.2
Thalamus4.8
Thymus3.6
Thyroid5.65
Tongue4.75
Tonsil4.6
Trachea4.7
TrigeminalGanglion5.7
Uterus3.8
UterusCorpus4.3
WholeBlood31.45
Wholebrain3.75
colon4.65
pineal_day107.52
pineal_night54.4
retina146.825
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P214839
  • 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
Amygdala2.43 ± 1.2
Basal Forebrain2.14 ± 0.66
Basal Part of Pons1.51 ± 0.57
Cerebellar Cortex1.93 ± 0.74
Cerebellar Nuclei2.21 ± 0.68
Claustrum2.85 ± 0.97
Epithalamus4.21 ± 1.27
Frontal Lobe1.78 ± 0.8
Globus Pallidus2.43 ± 0.83
Hypothalamus1.89 ± 0.7
Insula1.62 ± 0.57
Limbic Lobe2.01 ± 0.77
Mesencephalon2.11 ± 0.74
Myelencephalon2.02 ± 0.85
Occipital Lobe2.27 ± 0.72
Parietal Lobe2.12 ± 1.1
Pontine Tegmentum2.15 ± 1.04
Striatum2.64 ± 1.14
Subthalamus1.87 ± 0.57
Temporal Lobe1.83 ± 0.84
Thalamus1.89 ± 0.66
White Matter2.09 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MakCBCerebellum0.6
0.72
MakCTXCerebral cortex1.29
0.75
MakHIPHippocampal region0.73
0.95
MakHPFHippocampal formation0.62
0.65
MakHYHypothalamus1.15
0.68
MakLSXLateral septal complex2.02
1.19
MakMBMidbrain0.94
0.59
MakMYMedulla1.08
0.88
MakOLFOlfactory bulb2.41
1.91
MakPPons1.19
0.66
MakPALPallidum0.27
0.15
MakRHPRetrohippocampal region0.43
0.28
MaksAMYStriatum-like amygdalar nuclei0.68
0.68
MakSTRStriatum0.9
0.56
MakSTRdStriatum dorsal region0.96
0.48
MakSTRvStriatum ventral region0.58
0.55
MakTHThalamus1.95
1.14
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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