AutismKB 2.0

Annotation Detail for MYSM1


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Basic Information Top
Gene Symbol:MYSM1 ( 2A-DUB,2ADUB,DKFZp779J1554,DKFZp779J1721,KIAA1915,RP4-592A1.1 )
Gene Full Name: Myb-like, SWIRM and MPN domains 1
Band: 1p32.1
Quick LinksEntrez ID:114803; OMIM: 612176; Uniprot ID:MYSM1_HUMAN; ENSEMBL ID: ENSG00000162601; HGNC ID: 29401
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
blastocyst3 / 6231948
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult62 / 193912131
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 tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia8 / 9584283
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal105 / 336030731
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer20 / 102680194
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone0 / 716550 
bone marrow4 / 4880181
brain29 / 110098926
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver7 / 20774333
lung8 / 33697423
lymph2 / 4427045
lymph node5 / 9161054
mammary gland2 / 15327113
mouth3 / 6705244
muscle8 / 10771574
nerve1 / 1576863
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta7 / 28082524
prostate20 / 189345105
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1322_PI416573500
  • 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
Amygdala7.88 ± 0.29
Basal Forebrain7.5 ± 0.07
Basal Part of Pons7.61 ± 0.36
Cerebellar Cortex7.5 ± 0.36
Cerebellar Nuclei7.71 ± 0.26
Claustrum8.02 ± 0.38
Epithalamus7.47 ± 0.82
Frontal Lobe7.53 ± 0.33
Globus Pallidus7.54 ± 0.13
Hypothalamus7.29 ± 0.22
Insula7.41 ± 0.36
Limbic Lobe7.75 ± 0.44
Mesencephalon7.58 ± 0.38
Myelencephalon7.58 ± 0.3
Occipital Lobe8.01 ± 0.34
Parietal Lobe7.76 ± 0.32
Pontine Tegmentum7.58 ± 0.37
Striatum7.48 ± 0.41
Subthalamus7.58 ± 0.21
Temporal Lobe7.59 ± 0.33
Thalamus7.51 ± 0.26
White Matter8.35 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mysm1CBCerebellum1.24
2.18
Mysm1CTXCerebral cortex3.61
2.71
Mysm1HIPHippocampal region5.25
4.58
Mysm1HPFHippocampal formation3.65
3.11
Mysm1HYHypothalamus0.09
0.07
Mysm1LSXLateral septal complex0.37
0.37
Mysm1MBMidbrain0.54
0.72
Mysm1MYMedulla0.71
0.8
Mysm1OLFOlfactory bulb3.44
2.36
Mysm1PPons0.43
0.6
Mysm1PALPallidum0.11
0.1
Mysm1RHPRetrohippocampal region1.31
1.25
Mysm1sAMYStriatum-like amygdalar nuclei0.13
0.19
Mysm1STRStriatum0.26
0.29
Mysm1STRdStriatum dorsal region0.2
0.28
Mysm1STRvStriatum ventral region0.46
0.32
Mysm1THThalamus0.89
0.8
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