HsaINT0062453 @ hg19
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127681049-127685164:-
Coord C1 exon
chr5:127685039-127685164
Coord A exon
chr5:127681277-127685038
Coord C2 exon
chr5:127681049-127681276
Length
3762 bp
Sequences
Splice sites
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
3' ss Seq
TGATTTCGTTCTCGGTGTAGATA
3' ss Score
7.75
Exon sequences
Seq C1 exon
ATGTTAATGAGTGTGAGGTGTTCCCTGGCGTTTGTCCAAATGGACGCTGTGTCAACAGTAAGGGATCTTTTCATTGCGAGTGCCCTGAAGGCCTTACGTTGGATGGGACTGGCCGTGTATGTTTGG
Seq A exon
GTAAGATTCACACCCTCATGTATTCTATGTATAAAACAAGCCATGAATTTCCTTGTTTAAGCAGTGGCTAGTCCAAAACCACAAGAGTTTGTACTTGAGAAAACTTGCTTTAAATGAGATATTTAGGGGGAAATCACTAGAGGCTGTTTTAAAAGTGAATGTATTTATGCGAAATTGTTTCTGTTTCATGCCAAAAGTTGGGACTGCTCAAAAATCTATCTCAAAATCTTCCATTTCTTTAACCAGATAATTTAGACAGGTTCAGTCTTTCACACTGAGTTAATAGAGTAAGAATATGTTGAACACAGCAGGAAAGTTGGAGACTAGGATTTTAAAAGTTTACATTTGTCAGCTCATTGCAGCTACACCCTGAAGACAGTGGGGAAAGTCAAGAGCAAAGATATGTTGCTTCTGCTTGAAATCATTCACTGATCCTGGTCCTTCCTTTATTGCTATTAGAGTTTAAGTTTTCTTAATAGTTTATTTTTTAAAGATCTGTAGTGATGAATCTCTTTCTTTCAACAGCATATTATAGGAATAGTGATTTGACCTTTTTCTTTATTAGTGTCATGTTTGAACTTGAATTTCATGATTGAAAAAGAAATTTCTATTAATTTTCATTGTATGTAACAATAATTTTTCATTTACCTACAGAGATTTTTTTTCCCCCAATAAGCTATGGAACAGTAAATTTTTAGTTTATAAAAGAACTTTACATAGATTTGTATTTGAAATTTAGACATGTAGACAAAGCATAAATAATAGTGGTGGTGTATGCAATCACCTTTAAAGTATTTACATATCAGTGATTTTTAAAATTTACTGTAAGAAAAAAGTTTGCAATACCATACAGTTATTATAATTAAAACAGATTTCATTTTTAACTCAGTTTTTGATAGCACATTTAAATCTGGATTGGAAGCATGACTGTAAAATCATACAAAATTATTTAGAAAACATAATATCCAAAGTACAAAAATAAAGAAAATGTCTTTCAGATTTTTAAATATTTTAAAAATTATCTTTAAGTGATCTACAATGTTTAGAAATAAGTATCATTTGAAAATGACAAAATATTCCCCCAAAACTATCGAAATTTTAAAAAAAGAAAATGTCAAAAATAATAATATCAGTATGGCCAAATGACTAATGAAATCAAGTTACCTTCTATAATGAAATGCTATAATATATGAAGATATATCATTGATTGTAAATTATTACTCAGCAAAATAAATTTTCAATAACATTATTCAAAATTATGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAACCCCCCCCTCCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGATGCATGCCTGTAATCCCAGCTACTCGAGGGACTGAAGCAGGAGAATCGCTTGAACCTGGGAAGTGGAGATTGCAGTGAGCCGAGGTCGCACCACTATACCCTAGCCTTGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAGCATTTTTTAATATTCTAAGATGATATATTGGATTCTTCATCCTTGTACTTTGCTTAAATGCTTTTGTCACCACTTGAATTATGCTATATTAATTAATTCTGTCTGGGGATGTGAGAAAGTTTCAAGAAGCAACTGGCACATGAAAATGTAAAGTATTCTGAGAACTAAAGTTTTGGTAAATGCTCTGATAGAACCTCATCTGAATCAGGGATCCCAAACTCAGATGCTTGCAGGAGCCAAGCATGTAACATATAAATGAGTGACGCGACAACAGGGAGCAGTGGGGACTGCAGCAAACTTCAGAGAACATGGACCATCCAAAGGTTTCCAAATTCATATTTTAATTTCCATGCAAGGACAATCGCAGCATTGATAGGCCTTATGTGGCCAGTGTACTGACGTTTAATTCCTGATATAAATATAGAGTTCTCAGTAGTGTGCTGACTTTTAATTGCCGATATAAACATCCATAGAGGTCTCAGTATTAAAGACAGGATTGCTCTTCCTGGCTGTTATAACTTTTTACATGCATAGTTCAGATGCCTTTCCCCTCTCACCCTAGTTTATTCCAATAAGCTATGAAATGGTACATTTTTAGTTTGTCTTGAGCTTCTTGAGCAGGTTTCTTCAGTAACCTCACAGTATGACTCAGGCCAGAGTTCTTAGGCCACCTGTACTTATATAAGACTTTCACATCTTGAGAAGATTCTTACTTAGCTGCTGACATATGGGACGGAACCAGCTATAAGGAGACTAGCCCCTCAGAGCCCTGTGATAATGAGACGCTGGATTACTATCACACTTCACACTGGCAAAGCATGTGGCTTTTTGGTTTGTGTTAATGTAGATATATAAGACAGAATCACCTTCTGTAGATATCTACATTCAGTCTGCTGAATCAAAATAAACATTTACCACAGTTATTTTTTCCTTAAAAATAGGACTTTTTCTCAGGTAGCTGGGATTACAGGTACCCAGCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAGCTGCCTCAGTCTCCCAAAGTGCTGAAATTATAAGCATGAGCCACCACGCCACACCTGGTCTGGGCAACAGAGTGAGACTCCATCTCAAAAGAAAGAAAGAAAGAAAAAAAATAGAACTTTTTAATTCCAGTACTCAGAAATGTAACTCATTACCTTTTAGAACTTGAAAGAATCAATATTGACAGTAACTAAAGTAGTAAACATTAATTTTTATGTGTACATTTCCATCAGGGATCTCATTCCCTCCGTTAGACAGTTTTCAGCTTCTGGAAAGGATTTAATGTCTTAAAATGTTCTTATCAAAGAAATCATGCTATTTGATTAAGGAACCGTTTCCAAACTCATTATCCATATTTGTAATTAAACAGCCAAGTGCTTTAGTATGATTTGAAAATAAATCTATTTGCTAACAGATGAACATGTTATTTATAGACCATTCTGGTCTACTCTATTTTTAGATGTAGGCGACTGTTTATAGATATTCTAAGGTCCTGGCTAGCACAGGCTAAGCACTGAAATGTTGGTCTGTTTTGAAGTTGGAGGGAAAATGTGACATTTAAACAAATAATTGGTCCCTTAAAACGGAAAATTCACATAATCCAGGGAAAAACCATGATGCAAAAGGTAAAGTTGGCAGGAGAAAAAAAAAAACTTTAAATGTAATAATATTATAACACTTTCTTTTGTAGTGATCTTAATAGTTGTAACAAATTGGCAAATAGATTATAGCCGATCATTTACTGTTTATGAATGGGATCTGACAGGGCTGCTTAAAAGGCACTTGAAGCAATTCTCTGAACAGGAAGAATTATCATTAAAATTATCTTACCTTTTCTAAAGTGAACAATACAAAAAAGGAGTAATAGACATGAAGCAGTCATCTCATGAGAGGACCTTTTCTTCCTGAGGGTTTCTTGTGAGAATTAAGACTGAAGAGGATCTCACCTTTGTTCTCCTTAAATGACTGTCATTATGGAGTCCATTCCAGGAGGTCAGGGACTGCATCTTGCCCACCAGTACACCGCAAGGGTCCTGCATGATGCCTGGTGCTGAGCAGACGCTTGACATGTGACTGTTCAATGGATGTTTCAACTCATTCTCACCCTGTGATTTCGTTCTCGGTGTAG
Seq C2 exon
ATATTCGCATGGAGCAGTGTTACTTGAAGTGGGATGAAGATGAATGCATCCACCCCGTTCCTGGAAAGTTCCGCATGGATGCCTGCTGCTGTGCTGTCGGGGCGGCTTGGGGCACCGAGTGTGAGGAGTGCCCCAAACCTGGCACCAAGGAATACGAGACGCTGTGCCCCCGCGGGGCTGGCTTTGCTAACCGAGGGGATGTTCTTACTGGGCGGCCATTTTACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-FBN2:NM_001999:23
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=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.3)
A:
NA
C2:
PF0068312=TB=WD(100=54.5),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:
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
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)