AutismKB 2.0

Annotation Detail for MME


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Basic Information Top
Gene Symbol:MME ( CALLA,CD10,DKFZp686O16152,MGC126681,MGC126707,NEP )
Gene Full Name: membrane metallo-endopeptidase
Band: 3q25.2
Quick LinksEntrez ID:4311; OMIM: 120520; Uniprot ID:NEP_HUMAN; ENSEMBL ID: ENSG00000196549; HGNC ID: 7154
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 body13 / 70761183
blastocyst0 / 623190 
fetus44 / 56401278
neonate4 / 31097128
infant0 / 236200 
juvenile1 / 5555617
adult128 / 193912166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor8 / 12794625
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma25 / 82823301
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia13 / 95842135
liver tumor9 / 9635993
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal238 / 336030770
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer20 / 102680194
retinoblastoma0 / 463560 
skin tumor11 / 12494988
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland8 / 33197240
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone21 / 71655293
bone marrow4 / 4880181
brain6 / 11009895
cervix0 / 481710 
connective tissue17 / 149255113
ear2 / 16212123
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye1 / 2110544
heart9 / 89626100
intestine10 / 23447242
kidney70 / 211777330
larynx2 / 2414582
liver9 / 20774343
lung7 / 33697420
lymph4 / 4427090
lymph node33 / 91610360
mammary gland2 / 15327113
mouth1 / 6705214
muscle6 / 10771555
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta40 / 280825142
prostate31 / 189345163
salivary gland0 / 201550 
skin20 / 21057494
spleen1 / 5395218
stomach1 / 9661910
testis6 / 33044218
thymus5 / 8113161
thyroid0 / 474730 
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203434_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.95
Adipocyte707.1
AdrenalCortex4.35
Adrenalgland3.45
Amygdala4.15
Appendix4.1
AtrioventricularNode3.95
BDCA4+_DentriticCells5.7
Bonemarrow4.05
BronchialEpithelialCells3.95
CD105+_Endothelial9.1
CD14+_Monocytes4.3
CD19+_BCells(neg._sel.)4.25
CD33+_Myeloid5.45
CD34+20
CD4+_Tcells4.4
CD56+_NKCells4.8
CD71+_EarlyErythroid3.8
CD8+_Tcells3.75
CardiacMyocytes5.55
Caudatenucleus3.65
Cerebellum3.25
CerebellumPeduncles4.65
CiliaryGanglion2.9
CingulateCortex4.2
Colorectaladenocarcinoma4.05
DorsalRootGanglion4.25
FetalThyroid3.95
Fetalbrain3.9
Fetalliver3.55
Fetallung3.3
GlobusPallidus3
Heart5.75
Hypothalamus4.45
Kidney7.7
Leukemia_chronicMyelogenousK-5623.65
Leukemia_promyelocytic-HL-606.9
Leukemialymphoblastic(MOLT-4)3.25
Liver5.55
Lung4.4
Lymphnode3.45
Lymphoma_burkitts(Daudi)130.6
Lymphoma_burkitts(Raji)6.05
MedullaOblongata3.7
OccipitalLobe3.6
OlfactoryBulb189.8
Ovary2.7
Pancreas3.25
PancreaticIslet4.3
ParietalLobe4.3
Pituitary4.75
Placenta5.1
Pons3.85
PrefrontalCortex4.95
Prostate82.5
Salivarygland3.25
SkeletalMuscle4.75
Skin3.2
SmoothMuscle44.2
Spinalcord4.3
SubthalamicNucleus3.7
SuperiorCervicalGanglion5.15
TemporalLobe3.7
Testis3.45
TestisGermCell3.3
TestisIntersitial3.35
TestisLeydigCell4
TestisSeminiferousTubule3.45
Thalamus4.1
Thymus3.2
Thyroid5
Tongue4.1
Tonsil3.95
Trachea3.35
TrigeminalGanglion4.35
Uterus3.3
UterusCorpus6
WholeBlood204.9
Wholebrain3.3
colon4
pineal_day4.96
pineal_night4.88
retina4.85
small_intestine73.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P260101
  • 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
Amygdala2.7 ± 1.24
Basal Forebrain2.69 ± 0.77
Basal Part of Pons4.83 ± 0.59
Cerebellar Cortex1.73 ± 0.44
Cerebellar Nuclei2.5 ± 0.84
Claustrum2.95 ± 0.72
Epithalamus2.34 ± 1.5
Frontal Lobe2.13 ± 0.72
Globus Pallidus2.58 ± 0.68
Hypothalamus2.56 ± 1.35
Insula2.04 ± 0.6
Limbic Lobe2.11 ± 0.73
Mesencephalon2.43 ± 0.99
Myelencephalon2.55 ± 1.06
Occipital Lobe2.64 ± 1.13
Parietal Lobe2.47 ± 1.12
Pontine Tegmentum2.06 ± 0.74
Striatum5.86 ± 1.18
Subthalamus2.54 ± 0.82
Temporal Lobe2.22 ± 0.7
Thalamus2.94 ± 0.86
White Matter2.44 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MmeCBCerebellum7.16
7.9
MmeCTXCerebral cortex4.64
3.71
MmeHIPHippocampal region5.35
6.31
MmeHPFHippocampal formation6.31
6.44
MmeHYHypothalamus6.51
5.72
MmeLSXLateral septal complex0.37
0.27
MmeMBMidbrain4.32
4
MmeMYMedulla9.51
9.95
MmeOLFOlfactory bulb3.97
3.93
MmePPons6.36
6.43
MmePALPallidum10.66
11.16
MmeRHPRetrohippocampal region8.28
6.96
MmesAMYStriatum-like amygdalar nuclei1.53
1.47
MmeSTRStriatum23.78
20.8
MmeSTRdStriatum dorsal region34.84
30.9
MmeSTRvStriatum ventral region9.54
8.2
MmeTHThalamus4.72
4.65
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NEP_HUMAN_261 14 261 274 LPIDENQLALEMNK PRIDE
NEP_HUMAN_374 11 374 384 FIMDLVSSLSR PRIDE
NEP_HUMAN_437 11 437 447 HVVEDLIAQIR PRIDE
PAp00000580 13 397 409 ALYGTTSETATWR 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