HsaINT0112264 @ hg19
Intron Retention
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21102868-21104646:-
Coord C1 exon
chr10:21104554-21104646
Coord A exon
chr10:21102973-21104553
Coord C2 exon
chr10:21102868-21102972
Length
1581 bp
Sequences
Splice sites
5' ss Seq
TCGGCAAGT
5' ss Score
4.02
3' ss Seq
GCCTACTATTTACTTTGCAGGTA
3' ss Score
9.71
Exon sequences
Seq C1 exon
GTTTATTACAGAGGTCAGCTGGGAAGAGCTACCACTTTAAGTGTAACTCCTGAAATGGAAAGAGTGAAGAAGAATCAAGAAAATATTAGCTCG
Seq A exon
GCAAGTGGTTTTCTTCATTTTAGACTATCACAAAGGATGTGTCTTTTATTATTTACTTGCGGTCCTCCTTTGCTTGTGAAAATAAAACTTATTTTCAAGAAACATTTGTGATGTGTCCAATAAGTACATGTGTTATTTCAGATGACTTCCAAAAGCTGCCACTGCAAACATTTACATTATTTTGCAACTCTTTGTTATTTCCAGATGTGACCAACAGTTACATTCAAAGCTTAGGTTAAAATTATATTCATTTAAACAACGATTCATGATATGTTAGCCGTGTCTTTGAAGGTGGTAAAGCCTTTGATGTGTGCGTTAAATAATTGTCATTTTCCTGAAATATTTCATTGAACATGGATTGTTAAATGCTGTCTGCAAAACAAAATAGGAGATGGATCATTACCCCCACTAAAGACTTACAGAAAAGAATCCTTAAATACAGTTAACGTAGAATTCAGTTGCTCACCAAAGTCCAGTGGTGTACATGAGTATCTTATCTGAATATTGTGCTTCCTCTTAGTGAATATCAGGGCTTCAATTCTGAATTGTACATAATGCCCTCAGGTCCACAGTAAGTGGTATCCATATCTTACACCTAATCAGTTTCATAAATGGCGGTGTTCTGATGGGCAGTTGTGAAGAACACAGGCCCTTTTCTTAGCATACCCTGAATAGCTGTTTGCCTGAGAATCAGCATTTAGGCTTTGCAATTTACAGCTTCCTAGTGACATTTCTGTCCAGAGATGCTGTGTGTATTTAACATAAATTACCTTTAAGTTGTGGCTGCTTAGAAGAACAACTAAATTTGTTCCTCATTGTTTCTTATTCCCTAAGCAGAGAAAAAAATAAAAAGAAATAGAGTAGCTTGTATGCATTTTTTAACACTCTTATGGTAGAAAATTGGGAAATTTAGAAACAAAATAACTTTGGGTTCTATTTAATAGTTTTGGATTTTCTCTGTTTAACTTAAATATGATAACCAGTTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTATGTGTGTGTTTGAGACACAGTCTCTGTTGCCCGGGCTGGAATGCAATAGCACAATCATAGCTCATTGCAGCTTTGAACTCCTGGGCTCAAGCAGCTGTCTTGTCTTAACCTCTCAAGTAGCTGGGACTACAGGCACACGCCCAACTAATTTTTTTTTTTTTTTAATTTTTACCTGTAGAGATGGGGGGTTTCACTGTGCTGCCCAGCCTAGTCTCAAATCCCAGGCCTCAAGTCATCCTCCCACCTTAGCTTTCCAAAGTGCTGTGATTACAGATACGAGTCCTCGGGCTTGCGCAGGTTTACAGACTAGATAGATAGTTACTATTGGTCATTCACACATTTGTTTAGAGTTGATAGATTTAGGTCATTTAGCAGTAGGCGGTGGAGGAGATCTTTGATTGTAAAATTTTAGGTTGCTATTCTAGAACAAAATTTAATTCACTGAAATAGTTACCTGGAAAATAATTTCAAGTATGTTGCATATGTTTCACTCATTTGTAAAGCTTAAAAATGTTACATCATGTGTTTTCTTATCATTGTCTTATGCCTACTATTTACTTTGCAG
Seq C2 exon
GTAAAATATACCCAGGACCATAAACAGATGAAAGGTAGACCAAGTCTGATTTTAGATACACCTGCTATGAGACATGTTAAAGAAGCACAAAATCATATTTCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-NEBL:NM_006393:22
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.808 A=NA C2=0.867
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(55.2=51.6)
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
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGAGGTCAGCTGGGAAGAG
R:
ATGATTTTGTGCTTCTTTAACATGTC
Band lengths:
182-1763
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- 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)