Entry Detail



General Information

Database ID:exR0076890
RNA Name:MLLT1
RNA Type:mRNA
Chromosome:chr19
Starnd:-
Coordinate:
Start Site(bp):6210381End Site(bp):6279975
External Links:ENSG00000130382



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
ABHD17C
chr15
80679684
80755621
+
AC007192.1
chr19
18153158
18178117
+
AC010422.3
chr19
12643831
12648397
-
AC092073.1
chr19
34396315
34409364
+
ACIN1
chr14
23058564
23095614
-
ACTN4
chr19
38647649
38731589
+
ADCY3
chr2
24819169
24919839
-
AGRN
chr1
1020120
1056118
+
AKT2
chr19
40230317
40285536
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-34a-5p
chr1
9151735
9151756
-
hsa-miR-124-3p
chr8
64379210
64379231
+
hsa-miR-130a-3p
chr11
57641252
57641273
+
hsa-miR-149-5p
chr2
240456015
240456037
+
hsa-miR-302a-3p
chr4
112648186
112648208
-
hsa-miR-34c-5p
chr11
111513451
111513473
+
hsa-miR-130b-3p
chr22
21653354
21653375
+
hsa-miR-373-3p
chr19
53788748
53788770
+
hsa-miR-449a
chr5
55170586
55170607
-
hsa-miR-512-3p
chr19
53666729
53666750
+
hsa-miR-520e-3p
chr19
53675764
53675784
+
hsa-miR-520d-3p
chr19
53720149
53720170
+
hsa-miR-449b-5p
chr5
55170706
55170727
-
hsa-miR-654-5p
chr14
101040234
101040255
+
hsa-miR-454-3p
chr17
59137787
59137809
-
hsa-miR-483-5p
chr11
2134181
2134202
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC145285.6
chr16
28822431
28823969
-
AD000090.1
chr19
35557956
35581954
+
AF233439.1
chr8
6835535
6885276
+
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