HsaINT0112136 @ hg19
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152359863-152362084:-
Coord C1 exon
chr2:152361992-152362084
Coord A exon
chr2:152359956-152361991
Coord C2 exon
chr2:152359863-152359955
Length
2036 bp
Sequences
Splice sites
5' ss Seq
TCGGTAGTG
5' ss Score
1.01
3' ss Seq
ATTCTAATTATTTTCTACAGGTT
3' ss Score
8.42
Exon sequences
Seq C1 exon
GTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCG
Seq A exon
GTAGTGGCCATACTCTCAGCTTCCATTTGTGTGACTGGCCATCTCTCAATTGCTACCCTGGTGCTCTCTCATCTTTCTGCTTCCTATCAAGAGCTTCCATGCCTTGGGGATGTTGTGAATTCTCCCTTAGTCTTGATGGGGTCACTACAGGTTGCAAAAGTAGATAAGAAACCACTTTTCTCATAATCAAGGAGTAGAAGGGATTTGGCTTTCTTTTCCTACCTGTCACTGACTTGAAGCTCATGGACTTGGCTTCTTAATTAATTATCATGCCATTCGTTTCCAAAGTAAAATGTTTTGATGGTAGTAATAAGGTTATTGGGATGATCTCAAGTAATTTAACTAAAAGCATATACATATAAACATATAAGTAGTATAACATACTTTGGTTTTGTGTATATATATAAAACATGTGTGTGTGTATGTATGACACATCATATGAATGATAGGATTCCCAGTGTCCAAAAAGACCCTGGGTAGACATGTGAAGTCTCTTCTCCCCTCCCTTTCAAGGTTTCTTCTCCTGTATTCTTTGCTCTCTCCATCTAGTAAATGCAGTGGTACAGGCTGCGATCTACCTACAATGGTATATTATACATTAAGCCTGTTCTGTCATGGGAATTTCAGGCACCTGTGCAGTTTATTGCAGGGCACGTGTCCCCCACACCTGAAATATCAGGTTAGCACATTTCTCCTGACCTTTTGTCAAGCAAGCCCTGGCTCTGCACCCACCCCTTTTCCCATCCATACGCAGATTCTAGGCAGGTGTTGGCTACTAGCAAAAGACTATGTGAAGTTTGGGAAATAGTTTATGGCCAATAAAAGGGGAGGACCTTGGTCTTGGGATTCCCCTGGTCAATGGAGGACTGAACTCTCATTTGATTTTCTTTAGGATACTTGATATTTCTCTTGCAGGTTGTTCATATTATTTAGATCTCATTCCCTTCTCACTCTCTGCTTATACTCTGTGGTACAGATTTCCTTGTGGTACAAATTTCATTTAGAGTTTTGTGTCCTCTAATAAGAGTTGAGAAAGCTAGCCTAGGCTCCTTTGTCACTTTGCATTACAACTTCTTGGTTTTCTTTAATTTTGCTTTGTGCTGTTGTCCGAGATCAATTCTGCTGCTTTGTTGGGTGAAGAGTAAAGAAATGCAACTTTGTTACCAAGAAGGTAGATGTTCAAAGGTTCCTAGAAGCTTCCTTGCAAAACAAAGCTATCACGCCTAGCTTGTCACTGATTTTAAGAATTAAAATCTGGGTACGTTGCTCCCCACGCCATGCACTAATACACCAGGGAATCCATCCATTTAAAAGAACTCATTCAGTCCTTTAGGCTGAAAACTTAATGTTAAGAGTTAAGGAGGCTCAGAGAGTGGAGGTTCCTTAATGTTTTCATTAAAATGCATAGTCCTTAGATACTACTACTAAAAAATATGGACTTCTCCCAATTCAGAAAACACTAGTTTACTTGATCCAGCAATTAGCAGTAAAAATTTCAGGTAAAGATGCTCTTCCTGAAAAATAAACTGATTAAGCCATCTCACATCCAGGGACTAGGCTCCTACAGATTAGGAGCCAGCGAGGAACATTCATTAGAACATACAAAACAAAAAGAAAATTCTCAATAAGCCTGAAGGAATAGAGTATCCTATGATTGGAAAATTTTAAACCAAGCAATCTATTCATTAAGTACAAGTCTACTGCAGGCCTACTATATTTGAGGCACCAAAGCTAGATGCAACAAAATGGTTAGATTTTTCTCATTGGTAAATTTATTTATTAATGCATTTTAGGCATGCACTAAGTGGTTACAGAAAATGCATAATTTAGTGCCCAGTTTTCAAAGTAGTAAAAATTTTTACTATTTTGGAAAAGACAACATAAATATTCATGGAATTTTCCCCCCTGTTCCTTGAATGTTATATTTGAGAGCTAGATTGTTTTTATGAGTTTCCCCCAAATAGCCCACATGTGGCTGCTATCTAAAGGATTTACGGTCATTTTACCTTTCTGGGTATTCTAATTATTTTCTACAG
Seq C2 exon
GTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-NEB:NM_001164508:165
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.716 A=NA C2=0.732
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(30.8=25.8),PF0088013=Nebulin=PU(64.0=51.6)
A:
NA
C2:
PF0088013=Nebulin=PD(28.0=22.6),PF0088013=Nebulin=PU(57.1=51.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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
- Pre-implantation embryo development
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)