HsaINT0062498 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128258037-128261907:-
Coord C1 exon
chr5:128261736-128261907
Coord A exon
chr5:128259830-128261735
Coord C2 exon
chr5:128258037-128259829
Length
1906 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
ATTTCCTGTTCTTCCTCCAGGTT
3' ss Score
12.63
Exon sequences
Seq C1 exon
CCACTGTGTCTCAGGAATGGGATTTAACAAGGGGCAGTACCTGTCACTGGATACAGAGGTCGATGAGGAAAATGCTCTGTCCCCAGAAGCATGCTACGAGTGCAAAATCAACGGCTATTCTAAGAAAGACAGCAGGCAGAAGAGAAGTATTCATGAACCTGATCCCACTGCT
Seq A exon
GTGAGTATATCCCACTCTGTGTTGCCACAAAATTTTATCCCTACGGAGTCATGTATACAGTGCAGTTCACGTCGTTTTCAGCCTCACTGAAGTTAATCATACCTTGAATTTAATGGATAAATTAATGGACCCAGTATGGAAAAGACAAGTAAATTAAAGTGATTGAATTATTAGATCAAAACACAAAGCTTGGGAGAAAAGACTTTAAGATTCACAGTTTCAGAGCATTTTCTCTTGTTGTAGTTTTTGATTTATGTGGGAGGGTATGTCCATCTCGGGAAGAGCTATTTTTACATGATTCAAAAAATGAAATTATTTTTAATTTGTTCAGTTCTGTTTTATAAATGTATAGCATACAAGGCTGATTTTAATTTTCACTAGGGAAACCAAGTAGGTCTCATATTCTTTGTTTTATTTTTAAGACAGTTGTTCCTTCATTAAGAAGTTTTGTCTTCCAAATCACTTGTATTCTTTAAGGAACTGAAGTTGGAAATTGCGAGCCACTGATATTTCCTTTCCCTAATTGCATTTTGGCAGTGTTTAAAGGGGTGGGCTGCAGACTACCTGGTTTTGAACGTAACTCCCTGGCCCTCCCTATCTGTTACCTCTGTTACATAGTTTGTGTTTATTTAACTTCTCTCAACCTCAGTTTTTTCACCTGTAAGATGGGAATAATAATACCTCTGAAGGCTGATGGAAGGGTTAATTGAATTGAAACATGTGAACTGCCTGGAACAATGCCTGACATATATATCACATGTGTTCAGTTCCTATGAATGATTAATATCTCATATCTAGAGATCTTGATGATTTTCCCAAAGATCTGAGACAGTATGAGGTCGTCACTCACCACTCTCTGCAGTTAATATGACTGAGAAATTACCCCACCAAAAAACCTAATCAACAACTGGCTGGCTGTGTGAATTGGACAACTTGCTTCAGTTTTTTGGGCCTCAGAATCTTTGTCTATATGACCTGACTTGTCTAGCCAAAAAGTTCATGATGCTATTTTATAATAATAAATAAGCCAGTGTTACATTTACCTTAAGTAGACTAAGATACCCAACTGATGTTTGACAGTTGAGATATTCATCAAGTTCCCAAACTACAAATCCAGAAGTTCTGCTTATAAACTTTCCCATTGGGGTACTAGGACATAATTCTGCCTGAACACTGATGGGCACTTCTGGGTCACCACTGCCAAGTCCTCACTTAACAGATGCCCAATCAAAGCATTGTGGTTTTTATCCTATCTTACTTTGATATATTTGTGCTCCTCCCAACCCTCTGAGCAAAAGTCAGACTTGGTTTATCTGGGCCCTGCCCCACTGGCTTTTACCAAAGATGCTGGTTTGAACTGGAGCCCTGAGAACTCTGCAGATCACTCACTCTGTGTACCTCTGATAGCTCCCAGTAAACTCACTCATCATTCACTTACCTTACAAATCAAAGCCCAGCTTTCAGACAGAAGATTCCCCTGGGCGCATTCCCTGCTGATGCCCAACAGCAGTACTTCTTATTTTGACTCCAGAAAAAAAAAAATCATTACCTAAATTTTAGTTTTTAAAAATTATTAATTAGCACAATATTTCATAAACTCATCAAAAAAAACTTGAAATGGGAACACTCTGTAAGCCCAGTCCTGTACCTTTAATTACCTTGTTAAGGCTGAGTGAGAAGTCCTAAAGATTTACAGGGTATTCTCGATGGAATTGGCCTTTTCTTCCAACTGACAAAAATGTACAATAGCCTCTTTCACAGCCACTGCTGGTAAGGAGAGTGCAGAAAGCGGGAGTGGGAAGCCACAGCCTGTCCTCGTGACCAAAGCCCCTGCAGCTGATCTCTTTCTAGTCCTCTGCTTGTGCTGTAGAAGCTTGTCCCAAATCATTTCCTGTTCTTCCTCCAG
Seq C2 exon
GTTGAACAGATCAGCCTAGAGAGTGTCGACATGGACAGCCCCGTCAACATGAAGTTCAACCTCTCCCACCTCGGCTCTAAGGAGCACATCCTGGAACTAAGGCCCGCCATCCAGCCCCTCAACAACCACATCCGTTATGTCATCTCTCAAGGGAACGATGACAGCGTCTTCCGCATCCACCAAAGGAATGGGCTCAGCTACTTGCACACGGCCAAGAAGAAGCTCATGCCCGGCACATACACACTGGAAATCACTAGCATCCCTCTCTACAAGAAGAAGGAGCTTAAGAAACTGGAAGAGAGCAATGAGGATGACTACCTCCTAGGGGAGCTTGGGGAGGCTCTCAGAATGAGGCTGCAGATTCAGCTCTATTAACCCTTCACAGACTTGGGCCCAGGCTCAAATCCTAGCACAGCCAGTCTGCAGAAGCATTTGAAAAGTCAAGGACTAATTTTAAAGAGGAAAAATAATAATAACTCTTGTTTCTTTCCTCCCTGTCTTAGACTTTGAATGTTGACCCTCACAGGGAGGGATAATTTAGACTCTGGTATGGCCAAAGATTTGAGCACAAAGGCAACCGTGGTTACTGTATTTTTTATATAACTTCATTTTAAAATATATTAAAAGAAACCTAAATGTTCAAGATATCAGCATATGGCACTAAATGCACAAAAATAATGTGAGCTTTTTTTTTTTTTCCTGTTAGCAGTCTGTAACACTTTGGGTATTTTGCTATAGTTGCTAATTAAAAAAATATAGATGTTTATTTATTTTTAATGCAGTAATATATGGAGAAATGAACAAACTATGTAAACAAAAAGGGAAACTCACTTGTTTTTCTTTAGATTTATAAATTTGAGCTATTTTTTTTAGAGGTGCTTTTTAAAAATCCAATAGATACAAGAGATGTTTCCTTTGGTTTTCTGCCAGTCATCCAGCTGATACACACCTGATGATTTTAAAGAAAGCCACACAGAGCTGAATGGGCAGTGTAATCAATAATTTAAAAAACATGAATGTCATTAGATCCTTTATAACGTAGATCGAAGCCAAAGCAGCTCATTTGTGACAACATTTCATATCACCAGACACACCAGGCAACAGAAGTTGAAGCACAACCACTGTAGCAAAATACCTTGACTGCTTGTGAGACCATTAGCATTGCAGGCCAAACCGTACTGTATTTCCTTCTCATAACCTCAAGGAACCATATGTGCTACCCACAACACCTCATTCTTACCCAGGGTGCGCTGCGTCCTCATGGTACTGTAGGCAGCTGAAGAACCGCCGTTCCCTTGAAAGGGAACACCTGGCATTCTGTGGTGTTTCGTGCTGTCTTAAATAATGGTGCATTTATTATGTTCAAGTTATTTCAGGATTGCCATATGTGCAAACAAATCATGCAATGCAGCCAAGGAATATATGTTGTTGTTGTTGTTTTAAACCCATTTTTTTTTTAGAATTTTCATTAATACTGTAGTTATACACCATATGCCTCATTTTATCATAGCCTATTGTGTATGAAAGATGTTTGTACAATGAATTGATGTTTAGTTTGCTTTAGTCATTTAAAAAGATATTGTACCAGGATGTGCTATTAAGAGCACGTATCCATTATTCTTCTCAACCCAAGAACCTGTTTCCTGGACCAGTGACCAAACCTCATATGTGAAATGGCCAAAGCACATGCAGGCTCCTGGTTGTTCCTCTCAAACCTGTGCTGACCAAAGATTAGTAACCAGTTATACCCAGTATTTTGAGGTTTTATTGTTTTTTTAATAACTAAAAAGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829:ENST00000508053:70
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.241 A=NA C2=0.065
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=PD(5.1=3.4)
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:
TCTGTCCCCAGAAGCATGCTA
R:
TTTCCAGTGTGTATGTGCCGG
Band lengths:
347-2253
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