HsaINT0112178 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151727691-151729656:-
Coord C1 exon
chr2:151729615-151729656
Coord A exon
chr2:151727907-151729614
Coord C2 exon
chr2:151727691-151727906
Length
1708 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
3' ss Seq
ACTGCATATCAAATTTTCAGACA
3' ss Score
5.35
Exon sequences
Seq C1 exon
TACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAG
Seq A exon
GTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCTCCTTTCTTAGACTCCCAGGGCCACAAAGATGGCAAAAGGGATTATCTGACAGAGGATCACTCACCTACCTGTGCCCAGAAGCTGGTGTGAAAGCACAAACATTACCTGTTTGATGGATTATTTCACCTTTTTTTCCTATTCAAAAAACGCAAGATGGCAGGGGGTGGTTCCCCCTATTTCTTCTGTGTGATATTTTTGTGTAGATGAAGCTAATTAGAATAATGTCAGTGGCTATCACCATTCTCCAACAGCAGCAGGAGGGATGGTGACAACAAGCCAAGGAGCCTTGGCTTTGTGATTGGCATAGGGACAAGCAGTTTTACTGTGTGGAGTTATAACTTGTAGGACACCATCTCTGCCACCAGGGATGGTGTCTCCAGGGCTTCGTCCCTGATGATGCATTGAAATGCTACTCAGATTTTAGCACATTAGCAATTCTAAATAACCTATTACCATAAATATTCCACGTTCAAGCTCTTTTTTTTTTCAAGGTGAAATACCTCTCTCATGCTTTATTTTCTGCATGCAGCTGTTTCTCTTTGAGCATGACAAACAGTGATATGGATGGTTAATCCTGAAGCTTGTTCAGAGAGCCTGTGACTGCATAAAAACTAGTATCTGTAGATGCTGTAATTTGGTTAGTCTCTCACAGTCAACCATGCCTAGGTAATCATGGGCAGAAAACAACCTATTAGCAATGATGTGACAACACTAGAGGGGGTTTTTGTAAATGTACAATTTCCTTACTAGGTTCTCTTTTCATAATTGATGCTAGAATTCTTTGGTACAGATGATATTAGCTGTGAAGGGAAGGATACTGTGAAATGGATTGAAGAGTTGGCTGCTTATCTTTTTTTCTTACATGCATTATTTTTAACCTTGGATTAGACCCAAACTTTGGGTCTTAGTGTCTTCCACTACAGCCTGCTGTAAGAAATAGTAATTTCTCACCTACTACGTAGATAGGACTGTTGTGAGGATAATTACCCCATTATGTTGTCATCATTATTCTTGTCCACCTAAGCATTTATTAGTGTAAATGGCACTCCGGTTCACATTAATTAACTGACTAAGCCAAGGGAATGAAAATCTCTTATAATATTGATGCGATTCATTTTTTTAAAGTTCATTATTCTTTGTCTCCTACTACAGTGGAGAATGCCTAAATCCCTGCAGAACAAACGACCAATTTTCCCTTAGTCATTTACAAGTTAATATTAAAGTCAAGAATTTGAGCTTTGTTTGATTATCTTAACCTTTTGTTCCCCGAACTCAAGTTTGCTTTTACTTTACCCAGGCAACTTAAGATTTTCAACTGTTTTAAAAAAATAGTTTATTGCCAATTTCCCCCCCACTACTTTGAAGTGTTCGAGTGTCTTTCTGCAAATGCAAACTTAAGGCAATGTTGCAAAGTAATAAGGAGTAAACTTTTTATTCCACGCAATCCCAACAATCAGCATTCAGATTTGTGTACATAATGTGCCTTCATACGGCTACAGTGTGCCATTTCCTGCTTTGGCTTACTTTAGATATGGAGAAGTAACACCAGGAATGTATATCTGACTTGAAGTTAGACTAATATATACTAAGATCACAGTAGCACAGTTTTTACTTTCACAACAATGTTGAACTGCATATCAAATTTTCAG
Seq C2 exon
ACAATAACAAAAATTTATGAGACTACGACAACAAGGACATCTGACTATGAGCAATCAGAAACTTCCAAACCAGCTCTGGCACAGCCAGCACTGGCACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCATCCGGAAGAAAGTGGATCCTTCAAAGTTCATGACCCCCTACATTGCACACAGTCAGAAAATGCAGGATCTTTTTAGCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.143 A=NA C2=0.611
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0088013=Nebulin=PU(55.2=22.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACAGAAGAAGTGGTTTACGA
R:
TGGGCTAAAAAGATCCTGCAT
Band lengths:
254-1962
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