HsaINT1024704 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151494161-151496368:-
Coord C1 exon
chr2:151496276-151496368
Coord A exon
chr2:151494254-151496275
Coord C2 exon
chr2:151494161-151494253
Length
2022 bp
Sequences
Splice sites
5' ss Seq
TCGGTACTT
5' ss Score
5.17
3' ss Seq
GACCCATTGGATTCCCATAGGTT
3' ss Score
7.37
Exon sequences
Seq C1 exon
GTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTAGCTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCG
Seq A exon
GTACTTGGCGAGAAAAGAAAAAAACTACTTACTGATTTTAAAAACTACTTTTATGATTTAAAATAATACATATTAATCCTACTTTTTAAAGACAACTTAAATTTTGTGAAATTTCTTTAGCAAATTTACCCTTTTTTCCTTTGGGCTACTTCTAGCCTAACCCCATAATAACAAGGTTGCTTTAATCCATAAAGTTCTAATATCAAGAAGTAACAGATTTTCCTATAAAACATCCTTTTGCTTCTCTCTCTCCAAACTTACTCTCTATCCACTACCCCCAAGGTCTCTTTGTTTTAGATATGCTTGAAATTTAGGACGGGTACGTGTGGGGTGGTGGAGTAGGTCCAATGCGGCTCTTTCTTAAATATGATTTTGTTGTGTTTTTGTGTCAATGACTTCAGGTTCTAATTTACCCTGTCAGATTTGGACAAAGAGACCTTGGGAAAAATAATCCCTGATCCCCTCCTTCAAGAATAATGATATAAATTATGATCCAATAGTAGTTTTGGCAATTATTGATTATCAATTTACTTACTTAAAAATGAAAGTGTCACCAGAATGGCTTTTTGTTTTACCAGTTTTCGTTTTTTGTTTGTTGTTGTTGTTGTTCTTTAGTTTTACTGTAGTCTTTAACTGCAAACTTTAGTAAACCATTTCCCGTAAGCTTGTGCTCTGTGACATTATATATGGTTGTAAATTACCTAGGGATTGAGGTTTGCAGGGGGACTTCAGCTTTCAGTAGCAAACAACCTTGTGGTGTCCACATTTCCACTATCTGTAGGTTTCTCCAGTACTTGAGTACAGTGCTTCTAAAACATTAGCACGCATCAGAATAACGTGCAGGGTTTGTGAAGCCAGATTGCTGGGTCCTGCTCTAGTTTCTCATTCTGTAGGTCTGTTATAGAGGGGGCCAGAGAATTTGCATTTTTAACAAGTTCTCATTACTGACCTTGCTGTCCAAGGACCCCACGTTGAGAATCACTATTTCAACAGAATTCTTCCTCTTCAATGTCATTTCCTAAATCTCCCACGTTTCCAAGAATGACACTGAGGGGAGATACCGAGGTTGAGGATTTATCATGATGTGTTACTATGTTTCTCATTTTCCACTGATTCGCCATGATAGTGATATAAGAGCCAAAAACCTTATTCCTTAATGATAAGCTGAATGTTGTATGAAACTAAAGCAAGAGGCAGAGCATAGAGGATAGCAAAGAAAAAGAGGGTAGGGGAAACCCTTTGCTTTGTCTGAGGGCCTACAGTTTTACTGATATGTCTATGAGAGTTTAAGTGCTGCAAAACAGTCCAGTAAAAAAACAGCTGCTGTGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGCAGTTCAAGACCAGCAAGACCAACATAGTGAAACCCCGTCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCAGGGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTCTGTCTCAAAAACAAAACAAAACAAAACAAAAAAAAACAAACAGCTGATGTATTAGGAACAGCCTCAACCTTCTCAGTGTGATTGAAGCTCATGCCTGTAACTCCTGTTTGGATCATCTCTCAGGGGCTTGACATTGAGAGACTAGCGGTAAAATGATGGTGGTTTCTCATCCTTTTGAGGAACACCACAGGTCTCTCTTGCAGTCCTCAAGGGTTTCAGGGCAGGTGCCTATCCTGGTTGTGTCTTGCTGTAACTACACTTAACTTCCTTAGGAAACATACTACTTTCCATCTAACCTAATTGCCCAAATGGTTTGGGGCCCTAAAGATAATCAAAAGTTATCTGTACCATTTCCTTTTTTGGTAACTGTTAACTCTTTTTCTTTTTGGCTTTTTGGACCCATTGGATTCCCATAG
Seq C2 exon
GTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATCAAGAAAACATTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:141
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.971 A=NA C2=0.944
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(55.2=51.6)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(55.2=51.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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