AutismKB 2.0

Annotation Detail for MKLN1


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Basic Information Top
Gene Symbol:MKLN1 ( FLJ11162,TWA2 )
Gene Full Name: muskelin 1, intracellular mediator containing kelch motifs
Band: 7q32.3
Quick LinksEntrez ID:4289; OMIM: 605623; Uniprot ID:MKLN1_HUMAN; ENSEMBL ID: ENSG00000128585; HGNC ID: 7109
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 body5 / 7076170
blastocyst1 / 6231916
fetus63 / 564012111
neonate1 / 3109732
infant0 / 236200 
juvenile5 / 5555689
adult172 / 193912188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor2 / 11936916
germ cell tumor22 / 26384583
glioma5 / 10688346
head and neck tumor10 / 13630273
kidney tumor5 / 6895972
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia14 / 97250143
normal294 / 336030787
ovarian tumor6 / 7668278
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer6 / 10268058
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder2 / 2975767
blood4 / 12347832
bone2 / 7165527
bone marrow4 / 4880181
brain59 / 110098953
cervix2 / 4817141
connective tissue14 / 14925593
ear1 / 1621261
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye28 / 211054132
heart10 / 89626111
intestine14 / 23447259
kidney36 / 211777169
larynx5 / 24145207
liver6 / 20774328
lung17 / 33697450
lymph1 / 4427022
lymph node12 / 91610130
mammary gland22 / 153271143
mouth4 / 6705259
muscle15 / 107715139
nerve5 / 15768317
ovary7 / 10205168
pancreas3 / 21481213
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta22 / 28082578
prostate11 / 18934558
salivary gland1 / 2015549
skin10 / 21057447
spleen3 / 5395255
stomach1 / 9661910
testis26 / 33044278
thymus8 / 8113198
thyroid2 / 4747342
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord1 / 1368073
uterus18 / 23287877
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204423_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.3
Adipocyte5.4
AdrenalCortex5.9
Adrenalgland4.5
Amygdala5.65
Appendix5.5
AtrioventricularNode4.25
BDCA4+_DentriticCells6
Bonemarrow5.25
BronchialEpithelialCells5.3
CD105+_Endothelial5.4
CD14+_Monocytes5.7
CD19+_BCells(neg._sel.)5.6
CD33+_Myeloid7.6
CD34+6.8
CD4+_Tcells5.9
CD56+_NKCells7.95
CD71+_EarlyErythroid5.1
CD8+_Tcells5.15
CardiacMyocytes6.8
Caudatenucleus4.8
Cerebellum4.3
CerebellumPeduncles6.1
CiliaryGanglion3.8
CingulateCortex5.45
Colorectaladenocarcinoma5.4
DorsalRootGanglion4.2
FetalThyroid5.2
Fetalbrain5.35
Fetalliver4.6
Fetallung4.45
GlobusPallidus3.9
Heart7.05
Hypothalamus5.8
Kidney4.35
Leukemia_chronicMyelogenousK-5624.85
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.35
Liver7
Lung5.75
Lymphnode4.6
Lymphoma_burkitts(Daudi)6.8
Lymphoma_burkitts(Raji)7.45
MedullaOblongata4.9
OccipitalLobe4.8
OlfactoryBulb4.6
Ovary3.7
Pancreas4.3
PancreaticIslet5.7
ParietalLobe5.6
Pituitary6.25
Placenta5.55
Pons5.1
PrefrontalCortex6.65
Prostate6.3
Salivarygland4.25
SkeletalMuscle6.25
Skin4.15
SmoothMuscle6.15
Spinalcord5.7
SubthalamicNucleus4.85
SuperiorCervicalGanglion6.35
TemporalLobe4.85
Testis4.6
TestisGermCell6.1
TestisIntersitial8.95
TestisLeydigCell5.45
TestisSeminiferousTubule5.05
Thalamus5.45
Thymus4.25
Thyroid6.75
Tongue5.3
Tonsil5.25
Trachea4.45
TrigeminalGanglion5.6
Uterus4.4
UterusCorpus4.85
WholeBlood5.95
Wholebrain4.5
colon5.4
pineal_day6.68
pineal_night6.58
retina6.475
small_intestine5.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P93613
  • 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
Amygdala6.45 ± 0.31
Basal Forebrain6.66 ± 0.27
Basal Part of Pons6.29 ± 0.22
Cerebellar Cortex6.34 ± 0.25
Cerebellar Nuclei6.88 ± 0.16
Claustrum6.04 ± 0.45
Epithalamus6.78 ± 0.47
Frontal Lobe6.5 ± 0.34
Globus Pallidus7.47 ± 0.21
Hypothalamus6.56 ± 0.08
Insula6.4 ± 0.27
Limbic Lobe6.42 ± 0.36
Mesencephalon6.61 ± 0.37
Myelencephalon6.51 ± 0.35
Occipital Lobe6.64 ± 0.24
Parietal Lobe6.51 ± 0.31
Pontine Tegmentum6.62 ± 0.36
Striatum6.81 ± 0.29
Subthalamus6.25 ± 0.6
Temporal Lobe6.44 ± 0.31
Thalamus6.6 ± 0.29
White Matter7.2 ± 0.07
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mkln1CBCerebellum29.53
41.78
Mkln1CTXCerebral cortex73.7
62.08
Mkln1HIPHippocampal region56.17
89.25
Mkln1HPFHippocampal formation71.82
90.84
Mkln1HYHypothalamus60
53.45
Mkln1LSXLateral septal complex49.71
41.81
Mkln1MBMidbrain41.15
40.59
Mkln1MYMedulla41.91
52.97
Mkln1OLFOlfactory bulb62.87
59.98
Mkln1PPons50.79
62.52
Mkln1PALPallidum49.77
49.91
Mkln1RHPRetrohippocampal region100
100
Mkln1sAMYStriatum-like amygdalar nuclei56.29
46.24
Mkln1STRStriatum36.44
28.67
Mkln1STRdStriatum dorsal region31.97
24.87
Mkln1STRvStriatum ventral region34.36
25.71
Mkln1THThalamus47.51
43.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MKLN1_HUMAN_2 13 2 14 AAGGAVAAAPECR PRIDE
PAp00069993 14 202 215 IALEHPMLTDIHDK 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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