HsaINT0112135 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151505478-151506258:-
Coord C1 exon
chr2:151506166-151506258
Coord A exon
chr2:151505571-151506165
Coord C2 exon
chr2:151505478-151505570
Length
595 bp
Sequences
Splice sites
5' ss Seq
TCGGTAAAG
5' ss Score
6.18
3' ss Seq
TCCCATTTTTAAATCTGCAGGTG
3' ss Score
9.81
Exon sequences
Seq C1 exon
GTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCG
Seq A exon
GTAAAGACACAGTGAATGCACTTGCAATATTTTCTGCCTCCCTTTGATAATTTACAATGACCTATGAGTTGCACTCAAAGCCTCTGTCACCAGAAACAGCTTATATTGCTAAAATAGGTGCCTGTGTACCACCACCACACAGTGGCTAGAGTCATCTCATATTCAGTGCAGTGCCTTGGCGGTTTTCATGAGGGAGAGATTAGATCTGAAAAACAGAGAGGCTTGTGAGAAGGTAGAATCCGGTACAGTCAAAGAACCAACCTTCCTGGATATATGTATGTCAATCTGTTTATCCTAGTCAAACGACCTGCTGGGCATAAAGACATTGGAGTATACAGGAAAGGGCTGCAGTCTAAATAGGGGCCCCCATCCCTGCCCCAAAGAGACGAGAGAGAGACAAAGCGTCCCTGTCCTTGGAATTGTTCTCCTCTTACCCAGTATCAGAATGAGGTCCCATTCACACTAAGTATAAAGCCTGCGTTATTTACACTGTTAATTTTTTTAATTTGGGGGCTACAAAAAACATGTACATGTTGGGAAGAATAACAGTCCAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAG
Seq C2 exon
GTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:137
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.650 A=NA C2=0.675
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(25.0=19.4),PF0088013=Nebulin=PU(61.5=51.6)
A:
NA
C2:
PF0088013=Nebulin=PD(30.8=25.8),PF0088013=Nebulin=PU(64.0=51.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATATAAAGAGGATGTCTCACCAGGA
R:
CGAGCTAATGTGCTTCTGCGT
Band lengths:
182-777
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