HsaINT0112263 @ hg38
Intron Retention
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20815625-20817650:-
Coord C1 exon
chr10:20817600-20817650
Coord A exon
chr10:20815718-20817599
Coord C2 exon
chr10:20815625-20815717
Length
1882 bp
Sequences
Splice sites
5' ss Seq
AATGTGTGA
5' ss Score
-2.26
3' ss Seq
TTTGTTCTCTGAAATGATAGGTT
3' ss Score
4.92
Exon sequences
Seq C1 exon
GATCCACCAGAGCTGAAGAGGGCAAAAGAAAACCAGAAAAACATCAGCAAT
Seq A exon
GTGTGATCATCTTAGTAACTTTTTTCTTACACTATCAAATGCATTGTCCACGTGTGAATGAAGGGATTGTATTTATAGAATTTTCATAACCTTGAGCTGATGTCCTGTTCTCATTTGACTAACAACTTATTTGAAAGATTTCGGGGACTTTGGTATTGTGGGTACAGTCAGGTGTTCCCCACCTCAGGGTTCCCAGTGACTCATCAGGATGACTTTTTTCTTTTTGTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGACTGGAATGCAGTGGCACAATCTTGACTCACTGCAACCTTTGCCTTCTGGGTTCAAGTGATCCTCCCAGCTCAACCTCCCAAGCAGCTGGGATTACAGGCACATGCTGCCACACCTGGCTAATTTTTGTATTTTTTGTAGAGACGGGGTTTGGGCTGGTCTCAAACTCCTGAGCTCATGCAATCCGGCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGTGCCACCGGGCCTGGGTGACTTTTTTTGACAGGTTGTTGTGTATCCCTTCTATCTTGTCATCTAGCTGATGGGTGCTATGGTCTCCTCAAGTCCCACAGTCGTAGCTTCTGGCATCCTGGCCCTACAAACAAACATTTTCCCTCCCTTTTCTACCAGCATGTGTTCCTGTTCTTGCGCTTCCTCCGAGCCCCACTTTCCACTTCCCACAATCATGACTCCATTTTTGGGCAAAGTCTAGGAAGAAATGATAATGTGTGCATGGCTGAATAGGTTATATTGGACAGGACCATTTTGGGGGCACTTAATAAGGGGCTGGCAGTTTTTACCTAGACACCAACTTGTGGCCTGCTCCGATTCCCTGTTGTTGAAATAATTCACGGATGCAGTTCAAGAAGAAAGTCCTCTTTTACAGTCATTAACATATAGATTGGGTTCTTTGGAAGAGGAAACTTGGAAATCTATTACGTTCAAAGAAATCTTTTATTCTTCACACCTTTAAAGTCATTTTACCAGTTTATAATGCAAAGGCAGGTGATTGATACTTTTCCTAACAACTATATTTTAGAGAAGTAGACGCTCATCTTTCCCCCATATATTTAGAGTCATACTTGATGTGACTCCATTATTCTCAAAAAGGAACATGGTTATTTAGACAAGGAGTGGACCAGTGAGAAGCATGCTGGCTTTTTAAAGGATGCCCACAGTCACCTATTTAAACACATCTTTACAAAAATTCTGCCGCAGTTAATTCCTAAGAAACCACGACCATGTAGTACCAGTCTACGGTGAATACCTTTAAGTAATCTCCATGAAGACATTTATTCTCATTTCCTTTTGTGGTTAAATATTTATTACAGCTTTACGGATGGTATGCCTATGTATTCGAGTACATCCACAGTGATTTGGACACATGTACTCTCTTATGGGATGAAATGAAATAGATTGATTTAAGATGCCAGCATTTTAAATACAACTCAACCTCTGAAAATATTTTTTGTAGTTTCCTACAAAACTTCCCTGACTAACTCATTAAAATAAATACTGTGAGCCAGGCACTGTGGCTCAGGATTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGCCCAGGAGTTTCAGGTCAGCTTGGACAACATGGCAAAACTCAATCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCCTGAGCCTGGGAGATCGAGGCTGTGGTGAGCAAAGATTGTACCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTTAAATAAATAAATAAGTCTCTTTGTTGAATTGATTCATAGTATTCTATTTTTTGTTCTCTGAAATGATAG
Seq C2 exon
GTTTATTACAGAGGTCAGCTGGGAAGAGCTACCACTTTAAGTGTAACTCCTGAAATGGAAAGAGTGAAGAAGAATCAAGAAAATATTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114:ENST00000473616:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.947 A=NA C2=0.670
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(57.1=51.6)
A:
NA
C2:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(55.2=51.6)
Other Inclusion Isoforms:
NA
Associated events
- HsaALTD0004262-1/2
- HsaALTD0004262-2/2
- HsaEX0042362
- HsaEX0042363
- HsaEX0042364
- HsaEX0042365
- HsaEX0042366
- HsaEX0042367
- HsaEX0042368
- HsaEX0042369
- HsaEX0042371
- HsaEX0042372
- HsaEX0042373
- HsaEX0042374
- HsaEX0042375
- HsaEX0042376
- HsaEX0042377
- HsaEX0042378
- HsaEX1025426
- HsaEX1025428
- HsaEX1025430
- HsaEX1025437
- HsaEX1025438
- HsaEX6087794
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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