HsaINT0112143 @ hg19
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152353455-152354232:-
Coord C1 exon
chr2:152354140-152354232
Coord A exon
chr2:152353548-152354139
Coord C2 exon
chr2:152353455-152353547
Length
592 bp
Sequences
Splice sites
5' ss Seq
TCGGTACTT
5' ss Score
5.17
3' ss Seq
GTTGCTTTCTTATCGCACAGGTG
3' ss Score
8.7
Exon sequences
Seq C1 exon
GTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTTTACCTGTCACTCCCGAGATGGAAAGAGTCAAACACAATCAAGAAAATATTAGCTCG
Seq A exon
GTACTTTGGCAAGAAAAGAAAAAAACTACTTATTTAATGATTTTGAAAACTTTCATGATTTAAAATAATACGTATTAATCCTACTTTTTAAAGACAACTTAAATTTTGTGAATTTCTTTAGCAAATTTATCCTTTTTTCCTTTGGGCTACTTCTAGCCTAACACCATTCCCATTTCTATAATACAGTTAATTTCAATTTTTTATTTCATCTGGTATTTTCAATCTTTTTTTTAAAATAATGAGTTTTTCAGTTTGTGTGGATAACACCACTGAGTTCTAACTGTCTCAAATCCTCATATAATTGTTTAGGAGGCATGGTACTCACAAAAAAGGAAAAAAAAAAATAACATGGATAACTCTGACAGCCTTTCCCCAGCAGCTGAGGTCCCTGCTTCTCTAGAGGGTGCAGATTCCCCATCCCAACAACTTCCACTAAAGTAAAGTAGTCGGTGGCATTTTGTCAGCATATAACTTCTGGCTCCTTGGACAACTGTGTTTTGTCTTAACAAGGAAGCTGACCTTACCCTTAAAACCTTTCAACAAATGAAATGTTACTCATGGTTGTTTTTCTGGTTGCTTTCTTATCGCACAG
Seq C2 exon
GTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAGAAAATATTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-NEB:NM_001164508:171
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
No protein impact description available
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(39.3=34.4),PF0088013=Nebulin=PU(57.1=50.0)
A:
NA
C2:
PF0088013=Nebulin=PD(39.3=34.4),PF0088013=Nebulin=PU(57.1=50.0)
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:
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]
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)