HsaINT0062452 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128349347-128350005:-
Coord C1 exon
chr5:128349955-128350005
Coord A exon
chr5:128349473-128349954
Coord C2 exon
chr5:128349347-128349472
Length
482 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
CTTGCTGCATTTCCCTGCAGATG
3' ss Score
11.26
Exon sequences
Seq C1 exon
ATACAGCTTGCCCAAGAGGGCTTGCCAGGATTAAAGGTGTTACGTGTGAAG
Seq A exon
GTGAGTGTATCCTTCCTTGGAAGATACTATACATCTTTTGAGCAGTAAGTAAAATTAACATTCACTCTCAAACTTTGGAGATATTTATCATTTTCAAAAACCTTGACATTTCAATAAAAATACTCGATGTAATCAACAAATGCTTTAGCATAATTCTCTTAGGAAAGAGCTTAGAGTTTCCCGTTTCTCCTCTTTATGGAGTTGTGTAAATTTCATGAAGACATCGCTAGCCTTTAAGGCCCAGAACAGCTGGGAAAGGCACATGTCTGGGCCATGTTTTATGGACAGGCAAGGCTGTGGTAATTTTCACAGCTGGTACCTAGGAAAGCGGGTGGCTCGGTTGTGGAATATTTCTGTTTAACTCAAGTAATAATCCACATTGTATTGAATGTGGATTGAAAATGCTATACAGGAAGTAGGACCACACCTGCTTTTTCTATTTGTAACATCTTTGCTCCTCTGCTTGCTGCATTTCCCTGCAG
Seq C2 exon
ATGTTAATGAGTGTGAGGTGTTCCCTGGCGTTTGTCCAAATGGACGCTGTGTCAACAGTAAGGGATCTTTTCATTGCGAGTGCCCTGAAGGCCTTACGTTGGATGGGACTGGCCGTGTATGTTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829:ENST00000508053:28
Average complexity
IR
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:
PF0068312=TB=PD(17.1=38.9),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.3)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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