HsaINT0062486 @ hg19
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127623000-127624249:-
Coord C1 exon
chr5:127624130-127624249
Coord A exon
chr5:127623123-127624129
Coord C2 exon
chr5:127623000-127623122
Length
1007 bp
Sequences
Splice sites
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
3' ss Seq
CTGTCCATTCCTTTGGTCAGATA
3' ss Score
5.86
Exon sequences
Seq C1 exon
ATACTGATGAGTGTTCAATCGGCAATCCGTGTGGAAATGGTACATGCACCAATGTTATTGGGAGTTTTGAATGCAATTGCAATGAAGGCTTTGAGCCAGGGCCCATGATGAATTGTGAAG
Seq A exon
GCAAGTGATCTTTGTCTTAAATATTATTTCTTCTTGACATAGAAAGTGTTTTTTAATGTCTCAATATTTATTTATATTGCTTCTGATATTCTGCTGGTGAGCATACGGTGGGGTTTTTTGTTTTTTGGGTTTTTTGTTTGGTTGGTTGGTTTTTAGTTTTCCTTTAGTACAGTTAAAATAGCTGCTGTAAAGCCCTTGTCTGATCATTCCAGCATCTGGGTCATCTCAGGGTTGGCATCTCTTGATTGTCTATTCCCTTGAAATGGAGTCACAGTTTCCTGCCTTTTCAGTATATTGGTTAATGTTGGATTTATACTCTGGATATTGTGAATGATATGCTTCGAAATCAGTTATATTACTCTGAAGAATATTGATGTATTTGTCTTAGCAGACAGTCAACTCTGGTAGGCACAATAGCAGACCCTCAGGCCTCAGAAGGGCGGTGGCTCATCTGTCAGTTCTTTAAACCTTACTCACTAGCATTCTTGATTTTGCCCCACACATGCATAGTACAGTCATGCCACTTGAGCTGACTAGATGAAAAACAAATAGTATTTCTCCTTCCCTGGCATTCTTTCCTGGGTTCCCTTTCTTTAGCAGACTTGGTTGCCCTAAGATTCCCTCCCCTCCTTCCTCTGGATGGAATCTCAGAAAGTTTCTTCTGGAGAGTTAGCTACCAGATGACAGCACTGCCAGGCCATGGTCATCTGGAGGGTAATTTCAGAAAAATAGAAGCCAAATCAATGTGAAATTACTCCCTACTGGTTGTTTGCTCTGAGTTTCAGCTCACCACTAAAAACTTCAGGTACTTTTTATATTCTTTCCGGAGTTTATAGCTGTTATTTTTAAAGATGAGTTTGTTAGGTACTAAATTCTGCGTACCAGATGTGTAAGTTCTACTATTCTATTGCTTTGTGTATGACCGCCAAGTAAATGACATCAACATTTAGTTACACAAATAATTAGAACTCTAGGCTGAGCACATTCCTGTCCATTCCTTTGGTCAG
Seq C2 exon
ATATCAACGAATGTGCCCAGAACCCACTGCTGTGTGCTTTCCGCTGCATGAACACTTTTGGGTCCTATGAATGCACGTGCCCGATTGGCTATGCCCTCAGGGAAGATCAAAAGATGTGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-FBN2:NM_001999:53
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.1),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGATGAGTGTTCAATCGGCA
R:
TGCACATCTTTTGATCTTCCCTGA
Band lengths:
238-1245
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)