HsaINT0112127 @ hg19
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152371332-152373077:-
Coord C1 exon
chr2:152372973-152373077
Coord A exon
chr2:152371443-152372972
Coord C2 exon
chr2:152371332-152371442
Length
1530 bp
Sequences
Splice sites
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
3' ss Seq
TTCCTTCCTACTTACATTAGAAA
3' ss Score
5
Exon sequences
Seq C1 exon
GTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGAGTGGG
Seq A exon
GTAAGTCAAAAAAACCACACCACACAACAATGATCCATCACACTACTGAACACAAGCTCTGCCCATGACATGGCCAGTTTCCTGTCATCCAAAAGTGGTAGCTGATGAAACTTTTTATCATGTGATCACTAAAATCTTCTCCATCTCAGAAATCCTATGGTTCAGTTATTTTTTAAAAATGCTCTAGGTAGTAAATATTTACCATATGTCTTATTTCAACAGCCATTTCTGTAAAATTAGAACATGGAAAACTATTCCCAACACAAATTATACTGAATGTAATTTGGATTTTCCTTTATGAATGAAAAGTTCCCTCCACACAGACACCCCTTTGGCTTTGAAATGCTCTACTCTTAGTAGAATGCCCCAAGCCAAACAAAAGGGTATTTGTGATCAAGATGTTTATCAAGACCCCAGATAATCAAAAGTGAAGATGCCATATTCGTTATTTTAGAATTGTAAGCAGAAGCACTAAATTTTCTTTTGGTCATTTTTAACCAAGAGTAGAGAATGGAATCTTATTTTAAATCTTAGTCTGTCTTCAGTGGGAAATGGGCTTATTTGGAATTTCCATTTGCCTCTCTTCCTCCAACTATAAAGAAAAATTGTTTTAAATAAAAGCAGCAGTTTGTGGAGCTTTCTGGTGATAGAATGTCAGGTCATCAAAACTTTAAAATGGCTTCAAACAATTGGTCAATCTGAGTAAAGGATCTATAGGAGTTTCTTATACTGTTCTTGTGACTTTCCTGTAAATTTAAAATTCTATTAAAATAACAAAATTACAAAAGTAGAGTTCCAACATCTATTCCAAGCCCCTCTGTGAGTCAGCTAAGTCTGGAGACTGGAGAGGAGATGGGGCAGGGAGGCAGAGTGGACAAAACCATACAATTCCTCTGTGCCTCACTGCCCACCTAAGCTATTCAGTGATTTTTAAAAAACAGGTCAAAACTCAGTGTGGTGGCATACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCAGGAGGCTCACTTCAGCTCAGGAGTTTGAGACCAGCCTGGGCATCATAGCAAGACCCCATATTAAAAAAACAGGTCATGATTAGGAAAAAAAGCAAGTTAGCATTTGGTAGCCTTAGGCTCTCCTTCCACTGCGATTTTTTTCCCCTTGCCTCACTGACTTGTAATTCTGAAATAAAGTCTTTTGTCACCTTAAGAAAGGTGTGGGAAAGTTCAGAAGAGACAACAGAGGATTCAGAGTCCTGATGGTGCATCCATCCTTCCACTCTGTGAAGGGCCTGCCCCAGTCACAACATTAGACTGATGAGTGAGGGGCCCATCAAAGTGTCTCAGCCTGAATTTCCTTGTGGCCATTTGCTCCAGACAAAGTATTTCAAGTACAATCATACATGTTTCAAATGTGTGACCATTAGCAGAACTATGATTAAGAGCCCATACATAGAAAATGCTGTTTTTTTTTTCTTCCTGAGATGGAGAGATATATTGTAATAAAGATTTTTTTTTAACTTGTCTTTCCTTCCTACTTACATTAG
Seq C2 exon
AAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAACTAAAATAGCAAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-NEB:NM_001164508:157
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.517 A=NA C2=0.243
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=29.7),PF0088013=Nebulin=PU(57.1=43.2)
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:
AAGAAAAGTATGAAAAGGAACGAGGA
R:
CTCGCTTGCTATTTTAGTTGCA
Band lengths:
206-1736
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)