AutismKB 2.0

Annotation Detail for MMEL1


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Basic Information Top
Gene Symbol:MMEL1 ( MGC119454,MGC119455,MGC119456,MMEL2,NEP2,NEPII,NL1,NL2,SEP )
Gene Full Name: membrane metallo-endopeptidase-like 1
Band: 1p36.32
Quick LinksEntrez ID:79258; OMIM: NA; Uniprot ID:MMEL1_HUMAN; ENSEMBL ID: ENSG00000142606; HGNC ID: 14668
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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 tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal12 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine2 / 2344728
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis11 / 33044233
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P138294
  • 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
Amygdala2.37 ± 1.07
Basal Forebrain2.38 ± 0.63
Basal Part of Pons2.74 ± 0.42
Cerebellar Cortex1.75 ± 0.61
Cerebellar Nuclei3 ± 0.63
Claustrum3.01 ± 0.9
Epithalamus2.16 ± 0.81
Frontal Lobe2.19 ± 0.79
Globus Pallidus3.27 ± 0.57
Hypothalamus2.43 ± 1
Insula2.25 ± 0.67
Limbic Lobe2.09 ± 0.79
Mesencephalon2.35 ± 0.83
Myelencephalon2.21 ± 0.73
Occipital Lobe2.37 ± 0.87
Parietal Lobe2.15 ± 0.97
Pontine Tegmentum2.42 ± 0.76
Striatum2.91 ± 0.66
Subthalamus2.22 ± 0.5
Temporal Lobe2.02 ± 0.8
Thalamus2.31 ± 0.75
White Matter2.31 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mmel1CBCerebellum4.05
5.51
Mmel1CTXCerebral cortex1.76
1.54
Mmel1HIPHippocampal region3
3.94
Mmel1HPFHippocampal formation2.41
2.55
Mmel1HYHypothalamus3.61
2.35
Mmel1LSXLateral septal complex0.59
0.5
Mmel1MBMidbrain5.44
4.6
Mmel1MYMedulla15.19
15.28
Mmel1OLFOlfactory bulb2.01
1.82
Mmel1PPons9.37
8.91
Mmel1PALPallidum2.29
1.68
Mmel1RHPRetrohippocampal region1.43
0.82
Mmel1sAMYStriatum-like amygdalar nuclei0.46
0.69
Mmel1STRStriatum0.49
0.42
Mmel1STRdStriatum dorsal region0.35
0.33
Mmel1STRvStriatum ventral region0.87
0.55
Mmel1THThalamus1.56
1.26
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