AutismKB 2.0

Annotation Detail for MKL1


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Basic Information Top
Gene Symbol:MKL1 ( BSAC,MAL,MRTF-A )
Gene Full Name: megakaryoblastic leukemia (translocation) 1
Band: 22q13.1-q13.2
Quick LinksEntrez ID:57591; OMIM: 606078; Uniprot ID:MKL1_HUMAN; ENSEMBL ID: ENSG00000196588; HGNC ID: 14334
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 body6 / 7076184
blastocyst4 / 6231964
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult60 / 193912130
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 tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor6 / 11424652
esophageal tumor3 / 17290173
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma7 / 10688365
head and neck tumor8 / 13630258
kidney tumor1 / 6895914
leukemia11 / 95842114
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal118 / 336030735
ovarian tumor0 / 766820 
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
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 tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone0 / 716550 
bone marrow5 / 48801102
brain32 / 110098929
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus3 / 20209148
eye10 / 21105447
heart0 / 896260 
intestine10 / 23447242
kidney4 / 21177718
larynx2 / 2414582
liver2 / 2077439
lung11 / 33697432
lymph1 / 4427022
lymph node12 / 91610130
mammary gland8 / 15327152
mouth0 / 670520 
muscle1 / 1077159
nerve2 / 15768126
ovary1 / 1020519
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta12 / 28082542
prostate4 / 18934521
salivary gland0 / 201550 
skin7 / 21057433
spleen4 / 5395274
stomach1 / 9661910
testis10 / 33044230
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215292_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.15
Adipocyte7.55
AdrenalCortex9.1
Adrenalgland7
Amygdala8.25
Appendix21.3
AtrioventricularNode7.5
BDCA4+_DentriticCells6.9
Bonemarrow8.55
BronchialEpithelialCells7.75
CD105+_Endothelial7.5
CD14+_Monocytes8.2
CD19+_BCells(neg._sel.)7.85
CD33+_Myeloid8.85
CD34+7.4
CD4+_Tcells7.9
CD56+_NKCells8.1
CD71+_EarlyErythroid7.3
CD8+_Tcells6.75
CardiacMyocytes20.95
Caudatenucleus7.3
Cerebellum6.55
CerebellumPeduncles9.6
CiliaryGanglion5.95
CingulateCortex8.35
Colorectaladenocarcinoma7.75
DorsalRootGanglion6.7
FetalThyroid7.9
Fetalbrain7.9
Fetalliver7.05
Fetallung6.1
GlobusPallidus6.2
Heart13.6
Hypothalamus7.85
Kidney6.65
Leukemia_chronicMyelogenousK-5627.1
Leukemia_promyelocytic-HL-607.25
Leukemialymphoblastic(MOLT-4)6
Liver13.25
Lung8.8
Lymphnode6.95
Lymphoma_burkitts(Daudi)10.3
Lymphoma_burkitts(Raji)14.2
MedullaOblongata13.75
OccipitalLobe6.7
OlfactoryBulb5.95
Ovary6.9
Pancreas6.95
PancreaticIslet8.25
ParietalLobe9.2
Pituitary10.05
Placenta6.9
Pons8.95
PrefrontalCortex8.3
Prostate8.9
Salivarygland6.7
SkeletalMuscle14
Skin6.4
SmoothMuscle8.7
Spinalcord8.25
SubthalamicNucleus7.65
SuperiorCervicalGanglion16.85
TemporalLobe7.3
Testis6.75
TestisGermCell6.5
TestisIntersitial7.75
TestisLeydigCell12.4
TestisSeminiferousTubule6.8
Thalamus8.1
Thymus5.8
Thyroid9.4
Tongue11.9
Tonsil8.2
Trachea6.35
TrigeminalGanglion18.35
Uterus8.8
UterusCorpus9.85
WholeBlood8.5
Wholebrain6.4
colon7.85
pineal_day8.78
pineal_night8.84
retina9.625
small_intestine7.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15893_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
Amygdala3.22 ± 0.82
Basal Forebrain2.54 ± 0.7
Basal Part of Pons2.76 ± 0.68
Cerebellar Cortex2.85 ± 0.66
Cerebellar Nuclei2.48 ± 0.39
Claustrum3.52 ± 0.95
Epithalamus2.27 ± 0.71
Frontal Lobe2.85 ± 0.72
Globus Pallidus2.69 ± 0.66
Hypothalamus2.5 ± 0.65
Insula2.41 ± 0.68
Limbic Lobe3.41 ± 0.64
Mesencephalon3 ± 0.84
Myelencephalon2.92 ± 0.77
Occipital Lobe2.97 ± 0.76
Parietal Lobe3.1 ± 0.71
Pontine Tegmentum2.83 ± 0.67
Striatum2.5 ± 0.93
Subthalamus2.94 ± 1.13
Temporal Lobe2.87 ± 0.66
Thalamus2.68 ± 0.6
White Matter2.78 ± 0.7
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mkl1CBCerebellum11.67
12.9
Mkl1CTXCerebral cortex43.55
35.74
Mkl1HIPHippocampal region48.89
80.7
Mkl1HPFHippocampal formation43
58.21
Mkl1HYHypothalamus5.67
4.61
Mkl1LSXLateral septal complex42.53
35.93
Mkl1MBMidbrain11.88
11.53
Mkl1MYMedulla13.81
17.38
Mkl1OLFOlfactory bulb34.31
29.24
Mkl1PPons13.27
16.49
Mkl1PALPallidum11.21
10.29
Mkl1RHPRetrohippocampal region32.5
26
Mkl1sAMYStriatum-like amygdalar nuclei15.96
11.89
Mkl1STRStriatum38.52
29.44
Mkl1STRdStriatum dorsal region36.86
27.54
Mkl1STRvStriatum ventral region54.09
40.75
Mkl1THThalamus16.09
17.23
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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