HsaINT0112137 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151502793-151503441:-
Coord C1 exon
chr2:151503349-151503441
Coord A exon
chr2:151502886-151503348
Coord C2 exon
chr2:151502793-151502885
Length
463 bp
Sequences
Splice sites
5' ss Seq
TCGGTATTT
5' ss Score
4.52
3' ss Seq
TACTTTCTTGTATCTCACAGGTT
3' ss Score
9.78
Exon sequences
Seq C1 exon
GTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCG
Seq A exon
GTATTTACAAATATATCATATAAGAAACTATTTCCCATAAAAAATTTACCACAATAACCCATCTTTTTTAAAGAAAGTAACATCTTAACAGCAATTCTGTGTGTGTCTGTGTGTGTTGTGTATTATTACCTGACCAAAATTATGTTAATACAAAATGACTCACATTTCCGATTATACTTGAACATTTTCAGTGACTTGACTAGATTTGAAATACTATAAGTAGAATTAACAAGATTCCTCAGCGTTATATAACTTAATGCTTTCCATTGTACTTTTTCATTTCCAGAATTAGCATTGTAGAGTTCATCATTAAAACTGTGAAAAAAGTAAAAACATTATCCTTACTAAATATTACTTACTAAAAAACTGCCTCCTCACATATAACCCCTTCCCCCATTTCCTTCCTTCCTTACTCTCTGTGCCTGTTTTAAATGTCCTCTGGGTACTTTCTTGTATCTCACAG
Seq C2 exon
GTTTTGTACAAAGAAAATTTGGGGAAAGGAATCCCAACACCTATCACTCCAGAGATGGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:139
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.698 A=NA C2=0.703
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(28.0=22.6),PF0088013=Nebulin=PU(57.1=51.6)
A:
NA
C2:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(57.1=51.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTACAAAGAAAACTTGGGAACAGG
R:
CGAGCTAAAGTTCTCTTGATTGCG
Band lengths:
182-645
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