HsaINT0112195 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151644468-151646234:-
Coord C1 exon
chr2:151646130-151646234
Coord A exon
chr2:151644576-151646129
Coord C2 exon
chr2:151644468-151644575
Length
1554 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGT
5' ss Score
9.11
3' ss Seq
TGATCTTCATTTCTTAACAGAAA
3' ss Score
8.33
Exon sequences
Seq C1 exon
AGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGACATTGTTCTGGCTAAAGCAAACTTAATCAACACAAGTGAT
Seq A exon
GTAAGTTTTCAAATTCAGCATGTGTTTTCAGAAAGCTCATTTTAATTGTTTCTAAATCAGTGAAATTGTCTAGAAGTTCTCTGAATCCCTGAATTATTTTAATTAATTAACTACATATGACTTAGATTCCTTATTTAGTGGCTTTTAGATTGAATATCGAAATGTTAGTACTCACTATGTCAGGCAGAATGGGGAGTCTGTATTCTCTGTTCCTTGCAGTCCGTTGTTATACATATCATCATAAGGTGGCTTATATTGCTCTTCCCAGTGTGGACAGGCACTCTTTGCAGGCAGAGGCAATTCTTATTGAATCTACAGTGCTTATCTAGAATCGTGCCTGACACATAGTAGACACTCAATGAAATTTTGGATCAGTGAGCATACAAAACCCACGCAGGAGAATCTCATTTTTATTGTCATTATCATTGCAGCATAATCTCCTGAAATGTATACATCTGAAAATTAAATATTTTAAAAACAAATTCTAAATTCTAATAGAATGACTTTAACATTAAAGAATGTATTAAAGTAGTTCCACGAAGGACTGACAGATAAACACAAGTCCAAGATCAATAGGCACTTTAAATAATCTGGTTTCTGGATAAAAGTACATTTAAATCATATTCTCAATTTTTAAATTATGTTACAGATCTGAAAAAACAAATTCTTTCACTTAAGCTTTTAAAATTCATTATTTAAACCTTCTTCAAAACATAAGTTTTAGAAATTATGGTGGACTCAGTATCTTACCTATAGATGTGGATCCTATTTTGGATGGTCCCATTTTGGGAGACAGACTATTTCACAATGCATCAGCTACATAGAAGAGATAACCCCTTAGGCATGATTTTTCCCCATTAGAAGAATTAGATGCTCTTTTCTAACAAAAACTTCTAATGAAACAGTCCATGTGAATTGAAAAACAGCACCTCAATAATAATCCATTTCATTTCTCTATTGTTTTACTTCTGCCTGATTCTTGCAAGTATAGACATGCACTGTATAACAACAGTTTGGCCAACAAAGGCACACATACAGGACGGTGGTCCCGTAACATAATCATACTGTATTTTTGCGGTATCTTTTCCATGTTTAGCTATATTTAGATAGACAAATATTAATACTTCCCATTGTGTTACAGTGGCCTACACTAACATGCTCTACAGGTTTGTAGCCTAGGAGGAATAGGCTATACCATATAGCCTAGGTGTGTACTAGGCCGTACCATCTAGGATTGCATAAGTACACTCTGTGATGTTCCCACAAGGACAAAATCACCTAACAATACATTTCTCGGAATGTATCTTTGTCATTAACCAATGCATGACTGTATTTGGGAAGAGCTGACAATTTTGCTGATTTAGGTAATTGAAGAGCTTTAAAGTTTAAAACAGGATCATTAGCAATCAATGGGCATAATTTCTAATTACATTTGAGTATTTTAGGGCACAGATGCTATTCTCATGGACTCAAAATATTTAGCACATTTGATCATTATGCTATATTTGTCTATGGGGAACAGTATTTCCCAAAATGATCTTCATTTCTTAACAG
Seq C2 exon
AAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATGCCATACCAATCAAAGCAGCAAAAGCCTCCCGGGAAATTGCCAGTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:55
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.057 A=NA C2=0.000
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=30.6),PF0088013=Nebulin=PU(55.2=44.4)
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:
AGACTTTATAGAGAAGCTTGGGACA
R:
TTCACTGGCAATTTCCCGGG
Band lengths:
213-1767
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