HsaINT0112262 @ hg19
Intron Retention
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21106529-21108445:-
Coord C1 exon
chr10:21108353-21108445
Coord A exon
chr10:21106622-21108352
Coord C2 exon
chr10:21106529-21106621
Length
1731 bp
Sequences
Splice sites
5' ss Seq
GCGGCAAGT
5' ss Score
3.61
3' ss Seq
TTCTTATTTATCCTTCTTAGGTA
3' ss Score
9.72
Exon sequences
Seq C1 exon
CTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCG
Seq A exon
GCAAGTCGTTTCTGTTTCCTTTTATATTTTCTCAAACATAACATATTTTTATTTAAAAATATGCCCTTTGGAAGGCCATTATCCTTAGCAAACTAACACAGGAACGTAAAACCAAATACTGCATAATAATGAGAGCTAAATGATGAGAATACATGGACACATAGAGGGGAATAACAGACACCGGAGCCTGTTGGACGGGAGAGGATGGGAGGAGGGAGAGGATCCGGAAAAGTAACTGTTGAGTACTGGGCTTAATGCCGGGGTGATGAAGTCATCTGTACAACAAACTCCCATAACACAAGTTCACCTGTGTAACAAACCTGCACATGTACCGCTGAACTTAAAAGTTTTAAAAGAAAATGAATTTGAGCAACATGCAATTATATGGATGAATCATATCATTATAACATGAAAAAGTGAATATGTACATGCAGCATTAATTCTTTTGTAAAATTTAACAACTGCAATAATAACGATGATGATAAACGGAATATCTCCAGATTTAATAAAACTATCTAAAAATTTAAAAAGGAAAAGTTTTACACCCTCTGCATTTTTGGATGTTCCTTTTCACATTTCCTTGTTGAAGGGCATGAACTGCGTGTCCAGGAAATTTGGGACTGTGTTGCTGTACCTTAGCTGTGTTTGCTTATTCAAGAGATCTTCATTAAGTACCCAAATGTACTGGGCATTGTCCTGGTCACCCAGACACAAAGATGGGTAAGACCCACTTTCTATCCTCAAGGACCTCATAGTTCAGTTGGTAAATCTCTTTAAAAAAATGCAGTTAATGGAGAATACTGGATCTGATGTCAATATGAAAAGAAAAATATATATATATTGGAACAGGGCAAAAGAAGACCTGGCTTGACTGGCATTCTAAGACATAGTATCAAGTCAAAGAGCCTTATAAATGGAAAACATTTTTCAGTCATTCAATAGTCTGTTGTGAATAAAGCAAAAATAGTTAACAAGGCAGCGCTACTCTGTGCTGGGCCCTGTACTAATGTTCTATGTAAACCCATGAGGTCAGCACTGTTTGTTTCTCTGGTTGGTAGATGTGGGAAACTGAGTCTTGGGGAGGTCAGAGGACATGCTGGCCTCCCACCCCCAGCCCCCCCACCCAGCTAGTAAAGGCAGAGCTGAGATTGGAACATATTGTTGAACTTTCACCAATACAAACAAAAGCCTTCTTTTTCCAAAACAAGTACCTTTGAAAGACTTCAAAATGTAAGAGTAGGTTCTCCTGGGTGGAGATAATGAGGCTCAACACTGTTTATCCTTATAATATCCCTGGGAGGTGGTAGGAGTCAGAGAGCTTTAGCTTCTATTGAAGGGAGAAGCCCCACGGTCAGAAGACAGTAAAAAGCCTTCTAGGGTGACAGGGAATGGACTTCACAAGAGTTCTCTTGTAATGACTTCATTCTGGCGTTTCTTTTAAAGCATGTTGCCTTATGATTCCATTACTTTTATTTGTGGAATTTATGGTTAATTTTGATATTGAAGAGGAAAGCATTTATTGAAGACATATTTAAACAGTACCAGCAACAACTTGTGCTTGCTAAATCAGACCCATCGGAATGTGGGCGTATATGTAAGCGTGAAGGTTGATGTAATCAACTGTGGAAAAAAATGTGTAAAAAGATGGTGCTAATTTTGAGCCTTGTCCTTTGTGGTATTTCAGTGGAGCCCATTGTGCTATCTGTTAAAGTTCTTATTTATCCTTCTTAG
Seq C2 exon
GTAAAATATAAGGGAGAACTTCAACGGGGAACTGCAATTTCTGATCCACCAGAGCTGAAGAGGGCAAAAGAAAACCAGAAAAACATCAGCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-NEBL:NM_006393:20
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.946 A=NA C2=1.000
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=35.5),PF0088013=Nebulin=PU(57.1=51.6)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTATAAAGAGCAAAACTACAAGGCC
R:
ATTGCTGATGTTTTTCTGGTTTTCT
Band lengths:
182-1913
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)