HsaINT0112264 @ hg38
Intron Retention
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20813740-20815717:-
Coord C1 exon
chr10:20815625-20815717
Coord A exon
chr10:20814044-20815624
Coord C2 exon
chr10:20813740-20814043
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
GTAAAATATACCCAGGACCATAAACAGATGAAAGGTAGACCAAGTCTGATTTTAGATACACCTGCTATGAGACATGTTAAAGAAGCACAAAATCATATTTCAATGGTAGGGTCCAACCAGATCATTCTTAAAACATGCTAAGGAATGGGCGGATCCAGTGCACGGATGGCATTACTTCACTATTAATCCGATAACTAACAAAGCATGGAAATGTGGTTGGCTTGTCTTTTGAGGGAGGGGCATTTCTAATCACACTGAAATGCAGTGGAAACATTTAGTCTAATAAAATGATTTTTCTCAGTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114:ENST00000473616:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.670 A=NA C2=0.768
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=23.4),PF0088013=Nebulin=WD(100=38.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGAGGTCAGCTGGGAAGAG
R:
AGTGTGATTAGAAATGCCCCTCC
Band lengths:
342-1923
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