HsaINT0112221 @ hg19
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152579896-152580878:-
Coord C1 exon
chr2:152580774-152580878
Coord A exon
chr2:152580001-152580773
Coord C2 exon
chr2:152579896-152580000
Length
773 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
TTCACTCTTTTTTGATTTAGAAA
3' ss Score
8.73
Exon sequences
Seq C1 exon
GTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCTGAACTTGTCCAGGCCGTTAAGAACACCGCCATGTTCAGCAAG
Seq A exon
GTAAGGGTCTGCTCCATTGCCACTTCTGTCTTCCTATGTCATCCCATCATATATTTCATGTAATACTTGGTGAACTCTTGATCATCTGGAATACAATTCCCCAATCTTTTTATGAGTAGCCTTGAGACATGTGAGACTGCAGGGATAGGGCTTGGCAAAAAGGAACTGAGAGGAAAGCTCCTAGGCAGAGTGGGGAGAGGGTCCTTTGGGAACCTGAGCAACCTGGGGGCAGAGGGGAGTGTCTGTGGAGAATAAAGGTGCTCTGGAGAACCAGCTGAGAGAGCCACAAAGTAATATCTCAAAATTGTCTGTAGACCCTTTGGTATACTTTGGATGTCCCTGGCTATTACTCTAATTAGAGGTTTATTTTGTGCCCCTTCTTGCAAGTGTCCTATATTGCCCTGAACTATGTGAAGTGCTTCCTGGCTCCTTACATTGTGTTAGCACTTGTAAGTGCTATTAATAAACAATGACAAATAATGACCAAAAAAAAAAAAAAAAAAAAAAAACAAAGAAGGCAGGTAGAGTCACAGAGAAAAGTTGAAACAAAATCAGACACATCTGCCCCTCTGAAAATAAGAAAAAGCAGGGCATGCTATCAGTAAAAATGACTTGGGTTGGATGGAAAGTGGGAAGTTATCTGTGAATTTCATTTACCTTTGCTCTCACCTGGCCCTTGGTTCTTTAGGTTATTAATGGATGAATTCAAAACTATGTATTTTGTGTAAACGTGACCCTACTTCCTCCTAACTTTTCACTCTTTTTTGATTTAG
Seq C2 exon
AAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAGCCCGGAACTGAGGAGAGTTGCCCAGGCCCAGAAAGCTCTCAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-NEB:NM_001164508:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=NA C2=0.029
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(39.3=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATACAAGCAGAACTGGGAAGACAC
R:
ATCACTGAGAGCTTTCTGGGC
Band lengths:
206-979
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)