HsaINT0062497 @ hg19
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127597428-127599348:-
Coord C1 exon
chr5:127599117-127599348
Coord A exon
chr5:127597600-127599116
Coord C2 exon
chr5:127597428-127597599
Length
1517 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAGG
5' ss Score
9.16
3' ss Seq
ACTTTGCTTTTTGCAAATAGCCA
3' ss Score
5.18
Exon sequences
Seq C1 exon
ATGAGAATGAATGCTCCAATCCCAATGCCTGTGGCTCTGCTTCCTGCTACAACACCCTGGGGAGTTACAAGTGCGCCTGCCCCTCGGGGTTCTCCTTCGACCAGTTCTCCAGTGCCTGCCACGACGTGAATGAGTGCTCGTCCTCCAAGAACCCCTGCAATTACGGCTGCTCTAACACGGAGGGGGGCTACCTCTGTGGCTGCCCCCCTGGGTATTACAGAGTGGGACAAGG
Seq A exon
GTAAGGCGGCCTTCAGCCTCAGCACATAGAGGAATACATGGTTCCTGAGTGAGTTCAGGCCACCCCCCACTGCAGGGAAGAGTACAGTGTCTAAAAGCCAAACCGCAAAAGCATTGATTAGAACTCTTCGGGTATGCAGATAAATACCAAGAAAGCACACACGGACTGTGCTCAGGGTATAGCATTACTTCCTTTGTGATGAGCATAAAACTTGAACTTGTATGTAAATATCACTCTTTGCTCCTCTTATTAAGGGCCTGAATTGATTCAATTTGACCCAAGGCCAGAGACAAACAGATGCTTAAAAATGCGGCTCACACGTTGCCATGGATACCTGGGCTGTGAGGTAGAAGTGGAAATGGCCTTGCCACAGGTTCTTCTACAAATTCTGGAAGGTGCTAGCATAGTGATCACTGAGGAAGGAGTTTGTCCCTTTCTTTGCTCATGTGGCTTTCCTATCGCACAGAGAGAGGATGGTGCCTAGTTGGTGTGGTGTCATTCAGCACGGGCCTGACCCACAAGACAGGCTTCCCTCCAACTAGGCGCACTGTCTCAAGTTCCATGGGCTGTGGCAGAGGTGCTGGCCATTTGCATTCTTCCAGGAAGGCCGTGGTGCTCAGTAACACAGAAGATGGGCATTTAGAGGTCAGTCCAGGTTGCCTTCTTTGAAAGGAGCAGTGTGCAAGGCAGGGACTAAAAGGCATGGACCAAGTCTGTCCAACAATGGTGTATGATAATAGTTAAAACAAAAGGCTTGGTCTACACAAAGGTCATTTAGAGCCAATTCATTGACTCACTAACCAAAATATAAGTTCAGAAATCTCAGTTTTTAAAGCAGGGAGCTTTGTTGCAAGCAGCAAATACAGGCTTCAGGCCCCTGAAACAATGGAACCTGTCTTAGCATTCTCTTTGGAAATTCATACCTTACTTTTACCTTCTGGAGTTAATTATGCTCAGTACTTCAGTCTAACTAAGATTGAAAATTGGGAAAGCATGGGGCTCACCCTCAGAAGAATTTTGCTGTTTCAAAATAAGGGAAAAGTTTATCTATTGTGTGTTAAAGAATTATAGGGGATTGTGGCTCATCCCTGCAATCCCAGTACTTTGGGAGTCCGAGGTAGGAGAATCGCTTGAAGGCAGAAGTTGGAGACCAGCTAGGGCAACATAGCAAGACCCTATCTCTACAAAACATGAAAATTAAAAAAAATTAGTTGGATGTGGTGGTGTGTGCCGGTTGTCCCTGCTAATTTGGAGGCTGAGGCATGAGGAGCTCTTGAGCCCAGAAGTTTGAGGCTGCAGTGAGCAAGATCGTGCCACTGTACTCCAGCTTGGGAAACAGAGCAAGACCCTGTCTCTAAAAGAAAAATAAAAGAGTTGCAAAGAATATTAGGGTTTTATGTTTATGAGTTTAGTGTTTGCTCTGTTGGTTTCGTGTTTCTGAAGAGTCTGCTCTACCACTGGAAAACTATGGTCAAGTCAGTGATAAAGTCTAACAATACTTTGCTTTTTGCAAATAG
Seq C2 exon
CCACTGTGTCTCAGGAATGGGATTTAACAAGGGGCAGTACCTGTCACTGGATACAGAGGTCGATGAGGAAAATGCTCTGTCCCCAGAAGCATGCTACGAGTGCAAAATCAACGGCTATTCTAAGAAAGACAGCAGGCAGAAGAGAAGTATTCATGAACCTGATCCCACTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-FBN2:NM_001999:63
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=0.241
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=51.3),PF0764510=EGF_CA=PU(92.3=46.2)
A:
NA
C2:
PF0764510=EGF_CA=PD(5.1=3.4)
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:
ACAACACCCTGGGGAGTTACA
R:
GCAGTGGGATCAGGTTCATGA
Band lengths:
355-1872
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)