HsaINT0112229 @ hg19
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152458415-152459205:-
Coord C1 exon
chr2:152459101-152459205
Coord A exon
chr2:152458523-152459100
Coord C2 exon
chr2:152458415-152458522
Length
578 bp
Sequences
Splice sites
5' ss Seq
AATGTAAGA
5' ss Score
5.55
3' ss Seq
ATTGCACTCTCTGTTTGCAGAAA
3' ss Score
9.88
Exon sequences
Seq C1 exon
CCATTGTATCGCGATGCCTGGGAGAAAGAGAAGGCTAATGTGAACGTGCCAGCTGACACTCCCCTGATGCTGCAATCCAAAATCAATGCCCTGCAGATCAGCAAT
Seq A exon
GTAAGACAGCACACATCATTTGCTTTTCACAGTGCTCTCTGCCTAACCAAACCTTTTATTATACACCCCAAAGAGAGTTTGTCAAAAGGCATTTTCTTCCCATTCCTTTTATTTCTAGTCTTTAAGTTAATGATAAGTAGCTGTGTGGGTCTGCGTGTGTCTGTATAATGTACATCTCAATATTTGTTGGAAGGAAAAATGGAATGGTTTCTCCAAAAACACAACATAAAACTTATAGATACACGTAGAGTAATACCTAGTTCTCAGGTTTTGGTGGGCCATCCATCATTGCTTTTTCCTTGTAAAAGCCAAGCAATATGTTTTTTTCTGATTTTTACATGATTTATTATCTCCTAAGTTTCCTTCTTCAAAAAATAATTATTGGGAGAGAGCTTTACTAAATGTCATTAAAAATCTACTGGAATTCAAGCTCAATATGAAACCAGACTCTTTCATAAATCTTAAGGAGACATTAATGTTCAGTGTAACTGTAAATATCTATTTTTAAATACATCAGTAATGCTGACTCAGTAGCTCCCTCTTCAGACTGACTGTGGCATTGCACTCTCTGTTTGCAG
Seq C2 exon
AAACGCTATCAGCAAGCTTGGGAAGATGTCAAGATGACTGGTTATGACCTGCGAGCAGATGCCATTGGGATCCAGCATGCCAAGGCTTCCAGGGATATTGCCAGTGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-NEB:NM_001164508:87
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
No protein impact description available
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=NA
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATTGTATCGCGATGCCTGGG
R:
CTGGCAATATCCCTGGAAGCC
Band lengths:
208-786
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)