HsaINT0112150 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151491683-151492281:-
Coord C1 exon
chr2:151492098-151492281
Coord A exon
chr2:151491776-151492097
Coord C2 exon
chr2:151491683-151491775
Length
322 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACT
5' ss Score
8.63
3' ss Seq
ATCACTGGTTTCCCTTTCAGGTT
3' ss Score
12.13
Exon sequences
Seq C1 exon
GTGAAATATCATGAAGACTTTGAGAAACACAAGGGTTGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAG
Seq A exon
GTAACTGAGCCTGGGTTGGGGGAGGGGATTAACTTTAAGTGAGGGGGTAGAAGAACAAAAGTAGCATTACCTACATCAAGTCAAAACATAAAGGACTTCAATCTGTTTTTCTAGAGGTGCAAGAAAGCTCCTATTATCTCATAGTTTACAAAGCTGATTTCTACCTTATCTTTGTTCTCCTCTGAGGAAAAGACATGACCCAGAACCTAAGCTGGAATAAGTGTGATTCAATCCTTTGGTGGTTGTTAAAATTCATGCCTTGGTTTTCAAGTTATTGGAAAACTCCAAGAACACTTGTTCTGATCACTGGTTTCCCTTTCAG
Seq C2 exon
GTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:146
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.609 A=NA C2=0.629
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=17.7)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCATGAAGACTTTGAGAAACACAA
R:
CATTAATCATGTGTAAGCTTCGGGAC
Band lengths:
270-592
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