Entry Detail



General Information

Database ID:exR0076678
RNA Name:MDK
RNA Type:mRNA
Chromosome:chr11
Starnd:+
Coordinate:
Start Site(bp):46380756End Site(bp):46383837
External Links:ENSG00000110492



Disease Information

Disease Name:Fragile X Syndrome
Disease Category:Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH ID:D005600
Type:Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alias:Fragile X Syndromes//Syndrome, Fragile X//Syndromes, Fragile X//Marker X Syndrome//Marker X Syndromes//Syndrome, Marker X//Syndromes, Marker X//Mental Retardation, X-Linked, Associated With Marxq28//X-Linked Mental Retardation and Macroorchidism//X Linked Mental Retardation and Macroorchidism//Fragile X Mental Retardation Syndrome//Martin-Bell Syndrome//Martin Bell Syndrome//Syndrome, Martin-Bell//Fra(X) Syndrome//FRAXE Syndrome//FRAXE Syndromes//Syndrome, FRAXE//Syndromes, FRAXE//Mental Retardation, X-Linked, Associated With Fragile Site Fraxe//Fragile X-F Mental Retardation Syndrome//Mar (X) Syndrome//FRAXA Syndrome//FRAXA Syndromes//Syndrome, FRAXA//Syndromes, FRAXA



Expression Detail

GEO ID:GSE83556
Description:Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions
Experimental Design:Disease vs Control
Case Disease Type:Fragile X Syndrome
Case Disease SubType:NA
Case Sample:Fragile X Syndrome
Control Sample:Normal
Number of Case:22
Number of Control:18
Number of Samples:40





Regulatory Relationship

mRNA targets:
Gene SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC092143.1
chr16
89919165
89936092
+
AEN
chr15
88621337
88632281
+
AKIRIN1
chr1
38991276
39006059
+
AC013394.1
chr15
92883413
92949230
+
ALDOA
chr16
30064164
30070457
+
AK2
chr1
33007940
33080996
-
ADGRB1
chr8
142449430
142545009
+
AHSA1
chr14
77457870
77469472
+
ACTG1
chr17
81509971
81523847
-
ABHD14A-ACY1
chr3
51974706
51989183
+
AK4
chr1
65147549
65232145
+
AC093525.2
chr16
2496032
2520218
+
AL139011.2
chr1
160216800
160285130
-
ADAT3
chr19
1905399
1913447
+
AC008878.3
chr19
7382834
7470241
+
AHNAK
chr11
62433542
62556235
-
ADIPOR1
chr1
202940826
202958572
-
ABRACL
chr6
139028745
139043302
+
ABHD8
chr19
17292131
17310236
-
AL121845.3
chr20
63708864
63739103
+
AKR1A1
chr1
45550543
45570049
+
AC058822.1
chr4
53377839
54295272
+
ACY1
chr3
51983340
51989197
+
AC093668.1
chr7
102541501
102592444
-
ABL1
chr9
130713016
130887675
+
AC007192.1
chr19
18153158
18178117
+
AC011448.1
chr19
19516227
19536076
+
AC245033.1
chr15
82536788
82573194
-
ABCF1
chr6
30571393
30597179
+
AC104581.2
chr17
7925931
7930622
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-204-5p
chr9
70810031
70810052
-
hsa-miR-211-5p
chr15
31065095
31065116
-
hsa-miR-124-3p
chr8
64379210
64379231
+
hsa-miR-185-5p
chr22
20033153
20033174
+
hsa-miR-642a-5p
chr19
45674943
45674964
+
hsa-miR-624-3p
chr14
31014669
31014689
-
hsa-miR-3654
chr7
133034860
133034878
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007952.4
chr17
19112000
19112636
-
AC010615.2
chr19
21444241
21463908
-
AC011468.2
chr19
52130548
52171533
-
AC068134.2
chr2
232420661
232421461
-
AC132217.1
chr11
2129121
2129964
-
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
Display:



Experiment Detail

GEO ID:GSE83556
Sample Source:Amniotic Fluid
Source Fraction:Supernatant
Platform:GPL570
Method:Microarray
Num of detected RNA Type:1
Num of detected RNAs of this Type:17063
Sample treatment protocol:RNA was extracted from 5-15 mL amniotic fluid supernatant (centrifugation at 350g, 4C, 10, min).
RNA Extract protocol:All samples were processed using the Qiagen Circulating Nucleic Acid kit with an on-column DNase digestion step to remove genomic DNA. The RNA was then purified and concentrated with the RNeasy MinElute Clean up kit and eluted in RNasefree water.
RNA library preparation protocol:RNA was converted to cDNA and amplified using the Ovation Pico WTA kit V2 and then purified with the QIAquick PCR Purification kit. Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA)Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA).



Reference

PMID:NA
Title:NA
Author:NA
Journal:NA
Description:NA