HsaINT0062497 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128261736-128263656:-
Coord C1 exon
chr5:128263425-128263656
Coord A exon
chr5:128261908-128263424
Coord C2 exon
chr5:128261736-128261907
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:ENST00000508053:69
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=0.241
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