HsaINT0062491 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128276038-128278005:-
Coord C1 exon
chr5:128277880-128278005
Coord A exon
chr5:128276161-128277879
Coord C2 exon
chr5:128276038-128276160
Length
1719 bp
Sequences
Splice sites
5' ss Seq
TAGGTAACG
5' ss Score
7.74
3' ss Seq
TTCACATCACTTTTACTTAGACC
3' ss Score
4.77
Exon sequences
Seq C1 exon
ATATTGATGAATGTAAGGTAATGCCAAACCTCTGCACCAATGGTCAGTGCATCAATACCATGGGCTCATTCCGATGCTTCTGCAAGGTTGGCTACACCACAGACATCAGTGGAACCTCTTGTATAG
Seq A exon
GTAACGATGGGCACCTCTATATCCAGGGGTTTGGGGGCTAATCAGCTACTGTTTCCTGCAAGTCACTCATTATCAGTAGAGTGTCTTTATTATGGAGCTTTGGAATATATATTTTATTAAAATGTTGCCATCCTCTCAATAATGTGCTTCTTAATCACACAGCACTTGGCCTTTGTCCAGTAATGTGGGATGCTTAAAGGAGCCTCAGTAAAGAGAGTTTAAAAGAACTTGTGCCACATCCATGTGTCAAAAACAGAGAAACTCTTAAGTTTCTGATTCTCAGGTTGTAAACCTGAGAAACAAAAATCACAAATACATACTTTCAACATTTTATATTTTAATTTAAAATTTAAAGTGCACATTTGTTTGTCACTCTTTGACTGAAGGAAAAGGGCTTTTTCTTATGAATATGTGTGTTTGTGTATATTAAGAGAATGTTTTCCATGTTTCTCTGCTATTATTTTGCATAAAGTATACCAAGTAAGCATTACCTAAATAAAATTTCCAGCTGCGGAGCAGTCTCAGTACAGAATCCTTCTATCATTTTACAATTTATTTTTCTTATTCGGTTTTTTATTGTCTCACTCACACCTATATATGACAGTCGTGGGGCAGAAAGGACTTAGACTTTTGTCGGGTCTTTCCAAAGTATTCAACTTCATTTTTATTAAAGAAAAAATTTTTTTTCTCCTTTATATTTCATTAGCTTACTTGATATTCTATCAAATTACCTATGTCAATAACAAGCACACTTGGCATTAAAAGGTTAAGAAAACCCAACTGACTTCTTTGAAACAGAAGAGCATGAGTAATAGAGAATAGGCCATTAATCATAAGCATTCAGCATTCTGTGGGCATCAACGCCGTATGTTATATGGAGGAAATGGAGATTGTCTGCTATCTCAGAGTCCGAGTAGGAAAGAGATGGCATATTTCAAGGAGGACAATTCAAGGAGGGTCTAACAAAAAGACTGTCTATACACGTGTGAGCAGTGTGCACAAAAGCCAGGAGGCGTAGTGCTGTGTGCTGGGGCTGTACTACCCCTGGGCCAAAAGAAAAGAGTCAGAAGTTATTGGAACCTAGAAAAAGAAAGTTGTGCTCAGAGGACTGCCTTGAGAGGACCTCTGACAGCTGCTCCAGTGACTCAGCCAGCCTGAGCCTATCTTGCAGGGAGGGAGTTGAGGAAATAAGGGCCAGACAGAAGACAGAGGGCAAGGGAGAGCCTCCGGATGGAGTCTGTAGAGCTCCATCTCTTGGGCCTGAGAGCAGAGTGGACCAGGGTGAGGACTGAATCTGAAGGGGAAAGTGGAAGGTTTCCAGCACCATCTGTGATCCCACAAGATGCTTAAAGGAGCCTCAGTAAAGAGAGTTTAAAAGAACTTGTGCCACATCCATGGGTCAAAAACAGAGAAACTCTTATTAAGTTTATGATTCTCAGGTTGTAAACCAAAGTATATTAATCTAAAGAATGTAGTAATTTTGGACCCAGACAGTTGTCTAGACATCATAATATTTACCCAAGATCCATAGATTGATTTACAAAGTAAACCCGCATGTTACTTTAGAAAAAATCCTTCTGTGCATCATTTCTCTCTGGCTATATTCCACTTTAAGTTGAACAGGAAAAACAAAAAGAATGAAGTGAGAATATGGAAGGAGGAAAGAGTCTGGTTGTTTCTTTTAACCAGTAATTTAATCTTCACATCACTTTTACTTAG
Seq C2 exon
ACCTTGATGAATGCTCCCAGTCCCCGAAACCATGCAACTACATCTGCAAGAACACTGAGGGGAGTTATCAGTGTTCATGTCCGAGGGGGTATGTCCTGCAAGAGGATGGAAAGACATGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829:ENST00000508053:64
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:
PF0764510=EGF_CA=WD(100=95.3),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:
TTGATGAATGTAAGGTAATGCCAAAC
R:
CTTTGCATGTCTTTCCATCCTCT
Band lengths:
246-1965
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