Entry Detail



General Information

Database ID:exR0079010
RNA Name:PKM
RNA Type:mRNA
Chromosome:chr15
Starnd:-
Coordinate:
Start Site(bp):72199029End Site(bp):72231822
External Links:ENSG00000067225



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
AASDHPPT
chr11
106075501
106098699
+
AC027796.3
chr17
3585149
3636249
-
AC091167.2
chr15
90249556
90272208
+
ACACB
chr12
109116595
109268226
+
AL136454.1
chr1
192716132
192716653
+
AC093525.2
chr16
2496032
2520218
+
AL121594.1
chr14
35122549
35317474
+
AHCY
chr20
34280268
34311802
-
ACADM
chr1
75724347
75787575
+
ADA
chr20
44619522
44652233
-
AKT1S1
chr19
49869033
49878459
-
ADAR
chr1
154582057
154628013
-
ACTG2
chr2
73892314
73919865
+
AASS
chr7
122073549
122144255
-
AL121753.1
chr20
35267885
35280043
-
ADAM22
chr7
87934143
88202889
+
AHNAK
chr11
62433542
62556235
-
ADPGK
chr15
72751369
72785846
-
AC011448.1
chr19
19516227
19536076
+
ACO2
chr22
41469117
41528989
+
AC011462.1
chr19
41350853
41425001
+
AC093323.1
chr4
6663396
6676755
+
AD000671.2
chr19
35739252
35745432
-
ACTG1
chr17
81509971
81523847
-
ACTC1
chr15
34790230
34795549
-
ACAT2
chr6
159762045
159779112
+
AL133352.1
chr10
100505628
100529881
-
AIP
chr11
67483026
67491103
+
AC010422.3
chr19
12643831
12648397
-
AF241726.2
chrX
37349330
38687674
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-103a-3p
chr5
168560904
168560926
-
hsa-miR-367-3p
chr4
112647877
112647898
-
hsa-miR-654-5p
chr14
101040234
101040255
+
hsa-miR-541-3p
chr14
101064548
101064569
+
hsa-miR-1286
chr22
20249145
20249165
-
hsa-miR-3610
chr8
116874740
116874759
-
hsa-miR-5587-5p
chr16
535316
535333
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005899.4
chr17
32328441
32329395
+
AC010327.5
chr19
55216660
55221616
+
AC016876.2
chr17
7581964
7584086
-
AC020663.1
chr16
4730115
4752565
-
AC020928.1
chr19
36773112
36777078
+
AC024940.6
chr12
31280422
31280895
-
AC068205.2
chr11
43578889
43840030
+
AC079781.5
chr7
97851688
97972985
-
AC093827.4
chr4
86924630
86936202
-
AC100861.1
chr8
23224471
23230926
+
AC104461.1
chr1
200333193
200478669
+
AC106875.1
chr2
11681460
11683328
+
AC109460.3
chr16
28974804
28990775
+
AC132217.1
chr11
2129121
2129964
-
AC135048.1
chr16
30948386
30956511
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
AL031282.2
chr1
1702736
1737688
-
AL049796.1
chr1
93847174
93848939
+
AL110115.2
chr20
31580890
31581214
+
AL121992.1
chr1
15586136
15603626
-
AL137058.2
chr13
52600042
52642542
+
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