AutismKB 2.0

Annotation Detail for MMRN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MMRN1 ( ECM,EMILIN4,GPIa*,MMRN )
Gene Full Name: multimerin 1
Band: 4q22.1
Quick LinksEntrez ID:22915; OMIM: 601456; Uniprot ID:MMRN1_HUMAN; ENSEMBL ID: ENSG00000138722; HGNC ID: 7178
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 body2 / 7076128
blastocyst0 / 623190 
fetus22 / 56401239
neonate4 / 31097128
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal88 / 336030726
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain6 / 11009895
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye1 / 2110544
heart7 / 8962678
intestine4 / 23447217
kidney0 / 2117770 
larynx0 / 241450 
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach0 / 966190 
testis16 / 33044248
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord4 / 13680292
uterus5 / 23287821
vascular20 / 51780386
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205612_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.2
Adipocyte10.65
AdrenalCortex14.4
Adrenalgland10.3
Amygdala10.55
Appendix15.9
AtrioventricularNode14.3
BDCA4+_DentriticCells10.6
Bonemarrow13.3
BronchialEpithelialCells10.1
CD105+_Endothelial11.1
CD14+_Monocytes12.05
CD19+_BCells(neg._sel.)11.1
CD33+_Myeloid13
CD34+19.35
CD4+_Tcells11.55
CD56+_NKCells11.8
CD71+_EarlyErythroid10.95
CD8+_Tcells10.15
CardiacMyocytes24.15
Caudatenucleus10.15
Cerebellum9.3
CerebellumPeduncles15.5
CiliaryGanglion12.55
CingulateCortex11.65
Colorectaladenocarcinoma10.95
DorsalRootGanglion12.05
FetalThyroid11.25
Fetalbrain10.2
Fetalliver10.1
Fetallung10.2
GlobusPallidus9.6
Heart18.25
Hypothalamus11.1
Kidney11.45
Leukemia_chronicMyelogenousK-5629.8
Leukemia_promyelocytic-HL-609.9
Leukemialymphoblastic(MOLT-4)7.6
Liver19
Lung12
Lymphnode9.85
Lymphoma_burkitts(Daudi)14.75
Lymphoma_burkitts(Raji)17.9
MedullaOblongata10.35
OccipitalLobe9.75
OlfactoryBulb8.6
Ovary10.35
Pancreas9.25
PancreaticIslet12.05
ParietalLobe13
Pituitary12.7
Placenta11.6
Pons11.45
PrefrontalCortex12.45
Prostate12.25
Salivarygland10.25
SkeletalMuscle23.65
Skin12.4
SmoothMuscle12.4
Spinalcord12.1
SubthalamicNucleus11.05
SuperiorCervicalGanglion22.75
TemporalLobe10.85
Testis9.3
TestisGermCell9.6
TestisIntersitial10.9
TestisLeydigCell12.25
TestisSeminiferousTubule9.6
Thalamus11.6
Thymus7.5
Thyroid19.6
Tongue14.15
Tonsil11.4
Trachea9.25
TrigeminalGanglion18.75
Uterus14.25
UterusCorpus12.45
WholeBlood12.1
Wholebrain8.65
colon11.4
pineal_day13.16
pineal_night12.92
retina13.475
small_intestine10.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12208_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
Amygdala2.17 ± 1.02
Basal Forebrain1.79 ± 0.2
Basal Part of Pons1.46 ± 0.4
Cerebellar Cortex1.69 ± 0.76
Cerebellar Nuclei2.1 ± 0.67
Claustrum2.73 ± 0.89
Epithalamus3.12 ± 1.38
Frontal Lobe1.63 ± 0.64
Globus Pallidus2.3 ± 0.29
Hypothalamus1.94 ± 0.6
Insula1.81 ± 0.93
Limbic Lobe1.86 ± 0.7
Mesencephalon1.99 ± 0.75
Myelencephalon1.9 ± 0.76
Occipital Lobe1.99 ± 0.82
Parietal Lobe1.89 ± 0.82
Pontine Tegmentum1.96 ± 0.75
Striatum2.35 ± 0.83
Subthalamus1.93 ± 0.72
Temporal Lobe1.8 ± 0.8
Thalamus1.78 ± 0.63
White Matter2.92 ± 1.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mmrn1CBCerebellum0.95
2.05
Mmrn1CTXCerebral cortex1.74
1.9
Mmrn1HIPHippocampal region1.2
1.56
Mmrn1HPFHippocampal formation1.25
1.44
Mmrn1HYHypothalamus0.3
0.69
Mmrn1LSXLateral septal complex0.35
0.81
Mmrn1MBMidbrain0.3
0.56
Mmrn1MYMedulla0.33
0.45
Mmrn1OLFOlfactory bulb1.07
1.1
Mmrn1PPons0.28
0.46
Mmrn1PALPallidum0.48
0.58
Mmrn1RHPRetrohippocampal region1.33
1.19
Mmrn1sAMYStriatum-like amygdalar nuclei2.59
2.61
Mmrn1STRStriatum0.87
0.81
Mmrn1STRdStriatum dorsal region0.83
0.75
Mmrn1STRvStriatum ventral region0.18
0.12
Mmrn1THThalamus0.43
0.67
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MMRN1_HUMAN_1079 13 1079 1091 LVEENALAPDFSK PRIDE
MMRN1_HUMAN_1136 12 1136 1147 FRIPYLGVYVFK PRIDE
MMRN1_HUMAN_1207 20 1207 1226 GTIPAKFPPVTTFSGYLLYR PRIDE
MMRN1_HUMAN_1207 21 1207 1227 GTIPAKFPPVTTFSGYLLYRT PRIDE
MMRN1_HUMAN_1213 14 1213 1226 FPPVTTFSGYLLYR PRIDE
MMRN1_HUMAN_235 13 235 247 GPCGWTGGSCPQR PRIDE
MMRN1_HUMAN_283 21 283 303 AQEQQSLIHTNQAESHTAVGR PRIDE
MMRN1_HUMAN_396 15 396 410 IFQNDMQETVAQLFK PRIDE
MMRN1_HUMAN_442 18 442 459 FVLVQENRPTLTDIVELR PRIDE
MMRN1_HUMAN_512 18 512 529 LKEVHEQLLSTEQVSDQK PRIDE
MMRN1_HUMAN_795 9 795 803 YNFVLQVAK PRIDE
PAp00025211 16 125 140 FNPGAESVVLSNSTLK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved