AutismKB 2.0

Annotation Detail for MMRN2


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Basic Information Top
Gene Symbol:MMRN2 ( EMILIN3,EndoGlyx-1,FLJ13465 )
Gene Full Name: multimerin 2
Band: 10q23.2
Quick LinksEntrez ID:79812; OMIM: 608925; Uniprot ID:MMRN2_HUMAN; ENSEMBL ID: ENSG00000173269; HGNC ID: 19888
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 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult151 / 193912177
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 tumor3 / 26384511
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal223 / 336030766
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain46 / 110098941
cervix1 / 4817120
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart2 / 8962622
intestine5 / 23447221
kidney11 / 21177751
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth4 / 6705259
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta95 / 280825338
prostate0 / 1893450 
salivary gland0 / 201550 
skin5 / 21057423
spleen3 / 5395255
stomach1 / 9661910
testis10 / 33044230
thymus10 / 81131123
thyroid1 / 4747321
tonsil0 / 169990 
trachea25 / 52413476
umbilical cord0 / 136800 
uterus57 / 232878244
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219091_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.65
Adipocyte11.15
AdrenalCortex13.55
Adrenalgland19.15
Amygdala11.85
Appendix32.45
AtrioventricularNode26.5
BDCA4+_DentriticCells9.4
Bonemarrow12.05
BronchialEpithelialCells9.75
CD105+_Endothelial11.35
CD14+_Monocytes10.7
CD19+_BCells(neg._sel.)10.15
CD33+_Myeloid12.85
CD34+12.4
CD4+_Tcells10.75
CD56+_NKCells8.1
CD71+_EarlyErythroid10.85
CD8+_Tcells10.3
CardiacMyocytes18.25
Caudatenucleus15.65
Cerebellum9.45
CerebellumPeduncles14.35
CiliaryGanglion20.5
CingulateCortex12.2
Colorectaladenocarcinoma10.9
DorsalRootGanglion25.75
FetalThyroid11.65
Fetalbrain11.15
Fetalliver10.45
Fetallung19.4
GlobusPallidus9.35
Heart25.9
Hypothalamus12.5
Kidney27.25
Leukemia_chronicMyelogenousK-56210.4
Leukemia_promyelocytic-HL-609.1
Leukemialymphoblastic(MOLT-4)8.1
Liver15.4
Lung149.25
Lymphnode16.9
Lymphoma_burkitts(Daudi)14.85
Lymphoma_burkitts(Raji)15.2
MedullaOblongata13.35
OccipitalLobe14.4
OlfactoryBulb18.15
Ovary12.6
Pancreas12.6
PancreaticIslet15.95
ParietalLobe12.5
Pituitary13.25
Placenta145.2
Pons12.4
PrefrontalCortex15.05
Prostate13.25
Salivarygland13.7
SkeletalMuscle14.4
Skin17.6
SmoothMuscle10.2
Spinalcord14.3
SubthalamicNucleus12.15
SuperiorCervicalGanglion17.6
TemporalLobe10.7
Testis10.15
TestisGermCell10.5
TestisIntersitial11
TestisLeydigCell17.25
TestisSeminiferousTubule30.2
Thalamus17.15
Thymus12.55
Thyroid43.15
Tongue16.05
Tonsil12.75
Trachea14.75
TrigeminalGanglion15.3
Uterus17.75
UterusCorpus11.7
WholeBlood10.8
Wholebrain9.3
colon11.3
pineal_day13.98
pineal_night14.12
retina24.075
small_intestine11.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P150064
  • 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
Amygdala5.18 ± 0.65
Basal Forebrain4.97 ± 0.46
Basal Part of Pons5.04 ± 0.43
Cerebellar Cortex4.84 ± 0.75
Cerebellar Nuclei5.61 ± 0.5
Claustrum4.74 ± 0.86
Epithalamus4.83 ± 0.63
Frontal Lobe5.02 ± 0.7
Globus Pallidus5.7 ± 0.59
Hypothalamus4.68 ± 0.55
Insula5.01 ± 0.68
Limbic Lobe5.17 ± 0.84
Mesencephalon4.97 ± 0.71
Myelencephalon5.15 ± 0.69
Occipital Lobe5.22 ± 0.68
Parietal Lobe4.89 ± 0.69
Pontine Tegmentum5.02 ± 0.55
Striatum5.27 ± 0.79
Subthalamus4.33 ± 0.18
Temporal Lobe5.05 ± 0.69
Thalamus5.12 ± 0.67
White Matter4.9 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mmrn2CBCerebellum9.76
11.05
Mmrn2CTXCerebral cortex14.39
10.14
Mmrn2HIPHippocampal region6.88
6.22
Mmrn2HPFHippocampal formation12.37
10.22
Mmrn2HYHypothalamus8.1
5.31
Mmrn2LSXLateral septal complex8.41
5.68
Mmrn2MBMidbrain7.74
6.56
Mmrn2MYMedulla20.13
19.58
Mmrn2OLFOlfactory bulb19.01
13.84
Mmrn2PPons11.43
10.91
Mmrn2PALPallidum8.59
6.66
Mmrn2RHPRetrohippocampal region22.69
16.68
Mmrn2sAMYStriatum-like amygdalar nuclei4.62
2.99
Mmrn2STRStriatum7.11
4.68
Mmrn2STRdStriatum dorsal region7.4
5.06
Mmrn2STRvStriatum ventral region7.31
4.22
Mmrn2THThalamus8.74
6.26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00025215 20 844 863 FNTTYINIGSSYFPEHGYFR 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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