HsaINT0112101 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151546345-151547533:-
Coord C1 exon
chr2:151547429-151547533
Coord A exon
chr2:151546444-151547428
Coord C2 exon
chr2:151546345-151546443
Length
985 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGC
5' ss Score
6.16
3' ss Seq
TTTCTGTGTTTGCCTCTCAGATT
3' ss Score
11.04
Exon sequences
Seq C1 exon
TTGATCTACAAATCAGACTTCTTCAAGATGCAGGGCCACATGATCTCTCTGCCATACACACCCCAAGTGATCCATTGCCGCTATGTGGGAGACATCACCAGTGAT
Seq A exon
GTAAGCATCTCGTAGGGGTCTTTCTGGAGTAGTCTTACCAAGACGCAGGCTTGCTTTCAGCAGTTAAAACAACCAGTGGTCTTTGAACAGCCTTTTCTGATAAGCACTTCTAAACAAAGAGTACAAGTTGGAGGTAAGACAGTGTGGGAGAAGGATGCCACAATTCTACAGCTATGGAAACAGTAATAAGAGGACCACCTGGGGAAGACAGAATTGCCATCATTCTTGATCACTCAGTGACCACCATTCTACATTCAACATGGAATCATTCCAACTCCTCACTCCCTAACTCCCTGTGTGGCCTCCATCCCAGGTCATGTTGAGTATTTTCCTCTCACTCATCCCTACTCTGACCTCATTAGCAACTTCTTGCTGCCATTTTTTTCATTCTCCTTGTATGTTCTCTCCTCCTAAAAGACCAATCCATTCAATCTGTTCTTTTCTCCAATCAATGTTATAGTAATAAAATAATAGCAGTGTTCTCTCCTCAGCTCAGGGTTAGAGACTTAAATGAAAAAAAACATGACTTATTTGGGTGCAAGTAAACTAAGAGTACAAGGTAGATGAACTGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCACGATGATGTACGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTCAGCCAAGATCTTGGCATTGCACTCCAGCCTGGGCAACAAGAATGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGTAGATGAACCAAAATGAAAGACACAGTAATTAAGAAGTGTTGCTACTCCATCTTTTGTGTTTCCTGACTTACATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAG
Seq C2 exon
ATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:106
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(53.6=42.9)
A:
NA
C2:
PF0088013=Nebulin=PD(39.3=33.3),PF0088013=Nebulin=PU(48.3=42.4)
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:
TGATCTACAAATCAGACTTCTTCAAG
R:
GGAGCGGACCATGTCAGGAG
Band lengths:
182-1167
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