HsaINT0062460 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128527872-128530693:-
Coord C1 exon
chr5:128530595-128530693
Coord A exon
chr5:128527968-128530594
Coord C2 exon
chr5:128527872-128527967
Length
2627 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGT
5' ss Score
7.44
3' ss Seq
TTTGTTATTGCTCTTTGCAGTTC
3' ss Score
8.2
Exon sequences
Seq C1 exon
CGATTTGTAGAAATAGTTGTGGAGATGGATTTTGTTCCCGTCCTAACATGTGTACTTGTTCCAGTGGGCAAATATCATCAACCTGTGGATCAAAATCAA
Seq A exon
GTATGTTTCTTACTTGTGGCCTTTTCACTGCATTTTTCTTAAGCTTTGGAGCAAATGCTAAAGGTCCTTCTATGTGCCAGGGAGTTTTAACTGTTATTACTTTAGTTAATCCTTACATCAACATTATGAGATACTGTTAATACCCCATTTTACAGAATAGCAAAGTAAAGCACACATAATTTAATTAACTGGCCCAAGGAAACACAGACTTGAATCCAGGTATTCTGATGCCTAAGTGTATAGTCTCAAACACTAGACTGTATTTGTTGCCTTTGCTTAACATGTGTTTTGTGGGTTATCTAAGGGGGAAGGAGAGGAGAACTCCAAAGGCAGCATGTGTTTATTGAGTACTGACCACATACTTTACACATAATGGACCTATTTTGCTTCACATGTATTAACTGCCAACAACTTCATAAGATAATTATAACTGTGGACTATGATTGTGTGATTCATGACCCAATTAGAAATTGTTGGGTCCTTAAGGTCGAAGATTAATCTTTGAGGCTAGTATTTAAGATAACATTATAACAAGGCAGAAGCAAGATTGTTTATTTAATTGCTCAATAATTAAATAAATGCTTTCTTAAGTCTTGCCTCAAACTAGTGTGAAGTCATTATATTTTTAATACATCTTTCTTCAAATTTTCCCTAAAAGAAGGTAATATAGTATGTCTGACTCAGGAATAAGATTCAGGATTCATACATCAAATGCCATTGTCTTCTGATGAAACTCCTGATGAAAACTCTCTTAATTTCACTTCCTTTGAATCTGCCATTTCCTCAGCTTTTAAAACCTACCATTCAAATTCATCAAGATTTCTTGACCACTTTAACCAGAACATTTCATCCCCAACTTAACCTGAACCTCTCTTTCTTGCCTGATTACCTACAAGATACTGTTGCCAGTATGTTCATTATCCTGTTCCTAGTTTTCTCATATTTGCCTTTGGCAAAAAACACAATGCTGGAGGAATTTTAAGATTCAGTTTCTTAATTCCTCTACCTGGGAGCTGGGACATTCTCTGGTCCACTCTTTGCTTGTGGTATATAATTTAGCAGGGAATCTGTGCATTCATTTGGCCTTGGGCAATCCTTCCATTTCATCAGGAACTTTTCTAACCCTCCCAATCATCATCCTGTTTGACCTTGCTAAAGCTTTTGGCACTATTAATCATTATCTTCTTGAAATGTTGTTTTTCATTTTCTTTGAAACACCCTTGACTTTTAAAATGCCAGTGGCCTTCAGTGCTCCTTTTCTTGATCATTCCTTTTTAGTCTCTTTTCTATGTCTTCATCAGTCTTTCATTCAAGGTTTGGTATTCCTGAGTTCTGCCCTCCCTGGGTGAACTCATGTTTTCAATGACTACCAATCTGTTGATAACTCATAATATTTATCTACACTGGAGATCCCACCACTGACCTCCACACTCATATATTCCCTTTCCCATTTGACATCTCCACTCAAGAAATAGCAAGCAATTGAAACTTAGTAGCATGTCTAAAAGGAAACTGAATTTATTGCTGACCACAGGCTACTTGAACCACACAGTTCCTCCTGCCTTGGCAAATGGCTCTGCCATCCACCCAGTGCTTAAGTAACTGCTGCTTCTCTTTCTCTATGTCGGCTCTTTAAACAAGTCCTGTAGGCTTTACTGGAAAATAATTATCTCAGATTTATCTTTTCCTTTCCATCTCCACTGCTACCATGTGGTGTAAGCTATCCTCATCCTTCTCCCAGACTCTCGCCCTCTTCAAATCCGTTCTCTGCAGAGCAGCTAGAGTAATCTTTTTAAAATATAGATTACATCACTTCACTTTCTCATTTAAATCCTTTCAATGACTCCCTGTTGCATTTGGGATATAATGAAAACCCTTCGGTGGCCGAGGAGGCCCTGTGTTAGCTGGCTGGTCTCTGCCTGGGTTTCCAAGGTCTCTTCCCTGTCTGCCTCTTTTTAACCACAGGAATCTCTCCATTCTTCAGAAGAAACCTTTTACCATCCTAAGGTCTTTTGATTTGCTGGTTCTTCTCTCTCTGAAGTTTCTCCGTGGTACTTTTAATATCTGGCTTATTCAGTGTAAATGTCACCTCAGAGTGGTCTTGTCTAGTGCCAGTATCTAAGCTCCTTCTTGGCTCCAGACTAGTCTCCTTCACAACAGTTTACTTCAAACAGTTTATCACAGTCTATAATTACTTAGTGGTATTTGTTTACCTGTGTTTTCCGTAGCTCCCCATCGGAATTCAAGCTCTGTGAGGATAGCTTTCAAGTCCATTATGACAGTACTGCACTGAGCTGGAATGGTGGGCACTCACCTCCTGCATTCTGAATGGAGACAAAAGTGCCTCCTGCTTTCCAGAAACTATGCTGCTAGTCACCTTCTGTTTATTTTTTTTTAACATTGGAAGTGTTTTCAATGCATCCTGAAAAACATGTTATCACAGATATGCCCATGTGTGCACTTATAAAGAAATGATGAATAAAAATATGTTTGGGTCATAGTATTTCCTTCTGTAAGATATAATTGTCATTGAATTGGATAATTGAGTTTATAGTTTTATAACCTCTCACATATACTATAATTTTGATGACTGATGTTTTTATACTTTTTGTTATTGCTCTTTGCAG
Seq C2 exon
TTCAGCAGTGCAGTGTGAGATGCATGAATGGTGGGACCTGTGCAGATGACCACTGCCAGTGCCAGAAAGGATATATTGGAACTTATTGTGGACAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829:ENST00000508053:9
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:
NO
A:
NA
C2:
NO
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