HsaINT0062433 @ hg38
Intron Retention
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48412569-48415767:-
Coord C1 exon
chr15:48415536-48415767
Coord A exon
chr15:48412744-48415535
Coord C2 exon
chr15:48412569-48412743
Length
2792 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAGC
5' ss Score
9.04
3' ss Seq
ATGCTCCCCTTCTGCTGCAGGCA
3' ss Score
9.42
Exon sequences
Seq C1 exon
ATGAAAACGAATGCCTCAGCGCTCACATCTGCGGAGGAGCCTCCTGTCACAACACCCTGGGGAGCTACAAGTGCATGTGTCCCGCCGGCTTCCAGTATGAACAGTTCAGTGGAGGATGCCAAGACATCAATGAATGTGGCTCTGCGCAGGCCCCCTGCAGCTATGGCTGTTCCAATACCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCAAGG
Seq A exon
GTAAGCAGTGCTCTTCCTGGTCATGGTTGGAGATTCTTTCATTCGTAATATAATTAAGTATACTGAACTCAAAATTACCTGTCCTAGCAGAGGAGAACCATGCTTTTTGTAATCCTAAAATTAATTCCAGTTAGCTTGGCAAAAGTTTTAGGTTATTTTATTTGGAAGGAAGCATCTGGATTTCTGGAAACGTCAAACAAAGTAATGAAACTACATTGTAAATATCTCGCTATATGACTTCTCTATCTTATTCTCTTGATCTTCACATCTTGTTGGGAAGTGATTCATCTCTCTGTAAATACACCTCTCTGCCAACCCATGACAGAACTGGGCTCACCCTGCACACGACTGATCCACTCTTCTCCTGGGGCAGGGAGGATTCTATCTGGACTTAAAATGCCTTTGTATCTAGCTCCTGTTAGAATAAGTCAAAGACATCCCTTTGGGTTGAAAATTATTTAGGGTTTTAAATTATATTTTACATTTCAGACTTGAATTTACATTAAATTTTACCAAAGGTGCATTGAAACACTTACTGTATTTTCCTGGTTAAAAAAAGAAAAACAAAAAAAACACTTCACCAAATTATAGGTGTGTCTGTGTGAGAGTTGGGGCAGGGAAGGCCTTTTTTTTTTTTTTTTAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAATAGAAACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCGGACCTCGTGATCTGCCCGTCTTGACCTCCCAAAGTGCTGAGATTACAGGCGAGAGCCACTGTACCCGGCCGGGAAGGCCTATTTTTATTTTACCCAGTGATTTAAAAGTTTAGTGTTAAGTTTTCAAAGTTTGGATCTTTTTTCCTGCTGAATTAATCTGGACTCGGGTGTCCACCTAGTTTTAGCTATCCTGAGAGGAAGTGCACATTTTAACTTTTTAATTAGGAACACATAGACATTAAATATATATATACATTATGTACTCCTCCACATGCGTGTACACACACACCCCCACACACATCCACACTTATACCAAATTATTAATGTAGCAGTCTTTGATTTCTTGACATACAAACATCAAGTGATTCATTTTGGATCTGGGTAGGTAGAAGAATGTTTCGTGGGAAGCACACAGAATGCCAGCAATCAGACACAAATTCCCAGATGTTTGTGTCTGGCTCTCAGTAGACTCATTCTTTATAGTTTAATGCCAGAACCATTTCTTCCCAGCAAAAATTGTGACACTCTAAACTGGCTTTTGGCCAGTGGGATTTTGTAGTCACACTTCTTATAAGTGGTGCTCCCGGGATATGAAAATACTGGAAAGGAGTTCTGAGAAAGGAACCAAAGCCTGCAAATTTGCAGTTTACCTCCTAATAATTTAATCATTGTGTGAATGTATACGCATGCGCACACACCCACAGGATGAGCATTTATCACTTCATCCATTGTATTGTTTCTACATATTTCATGTTGCAAGATAAAGAGGAAAGGAAATGTATTGGACTCTGGCAAGATTGGGGGAAACAGTAGGAACCTATAAACTGCTTTGAAATACAACAGATATTCTGTTCATTGGCAACATATTTTGAATCCTAAGGGTATATAGGAAAATTAGTTCTAAAGAGCAGATCAGCTATTACAGAAAAACAGATAAATAATTTTTGGTCTATATTATGACCCATTGTTAGAAATCTACCCATTTAAAACAGTTTTGGCCTCTCCGAATCACTAGAATGGACTCTGCCCCCAAATAAAGATTCTTTTAAGGACCATTCAAATGTTTCAACACATTTGGAAAGAGGAGCTTGATAAATACACATTCCAAGTGGCCTCTGAAATAGTAAGCAGAATAACAAAACAAGGTACTTGTGAAACATTCGAGCCTCCCTCCGTAACTTGGCTTTGATAACTGAAAGGCAAAGAAAAACAGCTGAACGAGTTCTCTCTTGGGCATGGGTTTGTTTATCCATCTTCACATGAGTCGGAGCCAGTGGCCCTAGTGGTTTTGAATGACTTGAAACAGTTTCCCACAGTTGGGCAAACTCTGATACATGCATTTTATATACGGCATATCTTCATAGTTTATTATTAAATTAACCTTCATTATCAACCGGAGCTTTCTTCTTATCCTCAGTAGCATAAGCAAAAGTGAAACGTCAAGGAATAGGAGCAATTGCTCCAAAGCTTGAGTGAGGAAAAGTAATGATGGAAGTGGGAGAATGCAAGAAACTCAACAGTGATGTCTCACACCTTGCTCACTCCCATGGAGCCTGTTTCATAAAAAGAAGCCATTTTTATTTAGCCTCCCAAGTTACATGGCCTCCCTCATCTACTATTCTCTTGTTTCCACTCTGTGTCTCCTCCCCAGTATAAGTACTGCAAAATGCTTTCCATGTTAGGTTTGGGAATGAAGAGATAAATAAATATCCAAGACAGGGTCTTGATAGGCAGTAGAAGGAAATCAATACATTCAGGGAACTGGGAATTAGAGGCCAAACAGAGGACCTCAATGTAGTTCTCAGAACTAGCTGATCCTCCAGTGGACAAGCAAGGGCTGTATCTCACAACTGCAAGGAACAGGCTTCACCAGAACTCTTGTACCACCTACCTTGTCTTCCCATTCTAATGAAAAACATCTATGCTCCCCTTCTGCTGCAG
Seq C2 exon
GCACTGTGTTTCTGGAATGGGCATGGGCCGAGGAAACCCAGAGCCACCTGTCAGTGGTGAAATGGATGACAATTCACTCTCCCCAGAGGCTTGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCCTCCAATATCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147:ENST00000316623:64
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=0.441
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
Other Skipping 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