HsaINT0112276 @ hg19
Intron Retention
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21141474-21147273:-
Coord C1 exon
chr10:21147169-21147273
Coord A exon
chr10:21141579-21147168
Coord C2 exon
chr10:21141474-21141578
Length
5590 bp
Sequences
Splice sites
5' ss Seq
GGCGTAAGT
5' ss Score
9.39
3' ss Seq
TTCCCCATTCTGTATTTTAGCGA
3' ss Score
8.64
Exon sequences
Seq C1 exon
GTGAAGTACAAGAAAGACATTCAAAATATGCATGATCCAGTTTCAGATCTCCCAAATTTGTTGTTTTTAGACCATGTTTTGAAAGCCAGCAAAATGCTCAGCGGC
Seq A exon
GTAAGTGGTTCATCTAGCGGCAACCGTAGTTGCCTTGTGGCTCCAAGAAGCCAATATGTCTGCAGCGTTCATGTGCTCACCTGCTTCCTTAGAAGGCCTGTGCCTCACTCCTCCCTCGTTAACTAACTCATTGAAAAACAGTCCTCTGCTTGCAGAAATCCCACCAGAGCTGTCACTTTGCAAAGGAGGTTCTTGCTTGCTCTCCAGTATCTCCTGCATACAACTATACTTCAAAGTGTCTGCACAGTGGCCTTTCCATCATTCTTCTTTCCCTTACTTCATCTGTGTTAGATTAAAGCCACTTGAAGTTCAGGCTCTCAAGTCAGGGATATTTTACTTTATGCAGGCCAGACCAGAGTGTCTTGTATTTAGTACGCCTTCAGTAGCATGAAAAATTGTCTTAGTCTAAACTGTATTTTCTCTGCAAATAATTCCTAACAGCATTTATACTGCATTGACACATCGCTTTTAGTCTTGTCATGGTTTCCATGTTCTCGGTCAAGGCAACCAGAAGAGAAAGGTGAGTTCTTCATGTCTTGATGAAAATATCTGGGTGCACTGCCCACGTGGTCAGTCCTGCAGGACTCTCACTACGCTGAATGCTGTTTCAACCCATAGCACATCAGGACCCTGACTTCGCTAGCTCTCGTAACTGACAGCCCTAAGACACATTTGGCTCCATTTTGTACATCTCATGGTGGCAATGAGCTCTTATTTGACCATAAGTTATTTCCATACCTATTTTAATAATCACTTTCTCACTCACTTGCTCAAAATTAATCATAATTTATTGAATATCTGCTTTGGGCCAGGCATAGATTAGATGCAGAAATATATGTTGGGGAAGACATGAGAAAAAATGAAGATAGTTGTCTTCAGTTGATGGGCCTAGACTTAGAAATCTATAGGCAAAACTTAGTTTCCAGACAGTTAAATAAGGAGATACAGCTTCAGGTCAATTTTAGAAATAATCTATACTTGGCTTCAGTGTTTTGAAATGTATGTTTATTATTTTGTAAGCCTCCTTTCTGGAATATCACTGCCACTGTCTTCCTTCCTTAATGGTATTATGCATGCAAATAATTCATACAGAGTTTTTAAAAGTTTATTTTTTTCTGGCTGGGCATGGTGTTTCATGCCTGTAATCCCAGCACTGTGGGAGGCGGGTGGATCACCTGAGGTCAGAAGTTCAAGGCTAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTGGGCATCTATAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCATTTAAACTTGGGAGGTTGCTGTGAGCTGAGATGGCACCAATGTGCTCCAGCCTAGGCAAGAGTGAGACTCTGTCTAAAAAATAAATAAATACATAGAATAAAATAAAATAAAAATAAATTTATTTATTTTTTTAATCATTGGTCCTTGGATGAAAAGCAGTACATTAATGTTCCCAGGCTATTGAACAGGGAATGGAGGTTAGAGGAATATCTGGAGGGCCCAGAATTGGCAGTCAGTTCCAGGACACTTACATCATGCTGGCTTGCACTTCAGTCTTCATTCCCACACCTCTTTTTACATTCCTCTATTCCTTGAGTGTCTCTATTTCTGTCTTTTTTCTCCACGACTCATAGATATGCTTCTAAAATTGATATATTTCTATTCCCTGAGCCCCCTGCTTTCTTCACATTCATTCTTTGGCATCCAGTTTTCATCATGGCAGTGGCATTTGCCCTTGACCTTTCTCTAGCCATACTTAAATTCAATTTCCTAGGGACATGGGGATTCATGTGTAAATAAGCCAATAAAAATATCATGGTGGTAATTTCAACATTTGGTGGCTGGAAGAAAGCGTGCCACTCCTATGCAATATTGCTTTTCAAGAACGTTGACCTTTATTTTATAATAACAGAGAAAAAAATCGCAGTCTAATATAAATTGTTTCTATCATCTCTTCAACAGAGAAAACACAGCAAAGTCATACGTTACTTATTTCATGTATCATATATAAAGTTTAGATCTTCATTTAGGTGGTGCTTTTGCCTAGAGGACAGATTTCTTTTTCCCCATAGACAAATTGTGATTGACTACTTCCTGGGAGAGAAAGACTTAAAAATGTGTTCCTTTTGAAGTGTCTCCTTACAAAGTTGTGTACATTGTATAAAGCTGTATACATTTGCTCAACTTTATTGTATATTAGAATGGCCTCCTTTATCTAGCATTTGTGAAGAAACAAAGAATAGCCTACTTTAACATTTTAATGTAAAAAATTGGAGTTGTGTTGATTTATAAATTAAAAGATTGAATAAGATTGCTCAATAAGAGATATTCTGCCAAAATTATCCATTTGTCACAGTAGCTATTGTTTTAAAGACCCCTAGATGTCTTTAGCAACATCAGAGTTACTTTTATTTTAACCCAAACTCTAAAGAGTGATATGAGTGCCTTAATTACTGTGTAAAATCATTCTAATTAAAGTTTTGGAAAACATTTTCCCCTGGAAAATGGACCTCTGGTAGTGTTGAGTTTCTTTCACAACTTTACATAAATTAAGAAATATATATTTTGTGTTACTCCGTGTATCTCCCACTAGGAGGTAGCAGAGACTGTTATATAAGGAAAGACACGCATTCGAAGTTCTTTTGCAGATCTTAATTCAATTAAGTTTTCCTTCGTTTTTTTTTTGTTTTGTTTTGTTTTCTTAAATAGGAGTTTCTGAAATTCTTTGTAACTAAAATCGATAATTGTGTTGGGAACAATATTTACTGAATTTTTCAGTATATATTCATTATTTTACATATATTTATATGTATTTGTTGTGGATTTTAACTCAGTAATGGACTATGTTGTAGCTTGTTACATTCATGATTATTTTATAAATACATATTACAAGATAACTTCTAATCAAATTATAAAGTCTGTATTATTATCTTTCTTTCCAGATTTTAACTGGTTAAAAAAAAAACACTTTTTTTTTTTTTTTAAGACGGACTCTCGCTCTGTCTCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACTACTACTAGGTGCACCCCACCACTCCCAGCTAATTTCGTATTTGTAGTAGAGATAGAGTTTGACCATGTTGGCCAGGGATGGTCTAGATCTCTTGACCTCATGATCCGCCTGTCTCTGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTAGCCAAAAAAAGGCTTTTTTAAAAAAACATTAGAGGAGCCAAAATTTATAACTTGTTTCCTTCCATCACGATGTACTCTGTGGGCTAGGTGCAGTAGCTCCTGTCTGTAATTCCAGCATTTTGGGAGGCCAAGGCAGGAGGATGGCTTGAGGCCAGGAGTTTGAGACCAGCGTGGGCAGCGTAGTGGGACCCTAGCTCCACAAAAAATAAAGAAATTAGCTAGGCATGGTGACATGCACCTATAGCCCCAGCTACTTGGGAGGCTAAGATGGGAAGATTGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCATGATCCCTCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCCAAAAAAAAAAAAAAAAAAAAAAGTACTATATGAACATTTTCATGTCCTTCCTGGGGGGTGCTTTCCTCCCTGATTTTATTCTGGTTAGGTTTGGGGGAACATATATTGCAGCTCCCTAATTGAGTGGAAGCACCTGAGGCCAGGCTCCCTCTGGGGACTATTGCTTTGTCCCACTAGAAAGGGTAGCTCTCTTGTGGCAGGCCACTTGGTCATCTGTTCCATTCCTAGCACTGAGCTTTCTTCCTCTTTCACTCTGAAATCCCTGGAGTATCCCCTAAGATCAAAATGCAAATTTCCTTATGGCCAGCTCTTTCCCGCTCCCTTTCAAATACTGTTTTTGGATCCCTCCACTCTATTGCCATTTTTACTGGTACCCCATTGTCTAATAAGCAGCTATCTTTAGCTTCTTAAGTCTCTGTAGCCTTGAGTCTTTAAGAGCTACCATTTACTACTAAAGGTCTTTTCCAAATAAGGCAAAATAACAAAGTGTCCAATCTCCAATGATAGAAATCATGAAATAATTATTTTTAAAATTTTCTAATTTATAATTGTTATTGATACATAATGGTTGTATATATTTATGGGGTAAATGTAATGTTTTGATACAGGCATACAGTGTGTATTGATCAAATTAGGATAATTGAGGTATCCATCAGTTCAAGCATTTGTCGTTTCTTTCTGTTAGGAACATTTCAATTCCACTCTTAGTTATTTTAAAATGTACAATAAATTATTGTTAACTATGGTCACCCTATTGTGGCATTGAATACTAGATCTTAAACTCATTCTCTCTAACGGTATTTTTGCACTCCTTAACCATCTCCACTTTATCTCCTCTCCCCACCACTCTTCCCAGCTGCTGGTAGCCATCATTCTACTCTGTCTTCATAAGTTCAGCCTCCCGAGTAGCTGGGGCTATAGGTGCATGTCACCATGCCCAGCTGATTTCTTTATTTTTTGTAGAACTGGGGTCTCACTATTTTAGCTCCCACATATGAGTGAGAACATGTGAAATCTGTTGTTCTGTGCCTGGCTTATTTCACTTAACATAATGACCTCCAGTTCCATCCATGTTGTTGCAAATGGCAGGATCTCGTTCATTTTTGTGGCTGTATAGTATTCCGTTGTGTATATGTGCCACATTTTCTTTATTCATTCATCTGTTGATGGACACTTAGGTTGCTAATGAAACAATTTTTGTCATATTGCTGCCTGTTACATTTAGCTTCTTTCAGTGGCCAAACTTGGCATCCCTGTTCAATTTGGTGTCTTCCAAATTCAACTTTTTGTCTATATGTCCAAATAGTAGCCTTCATCCAATTTTTTCACCTTAAAAACTCAACTGACTGTTCCCAGATTTCTCAATTTCTCTTTCAGGCACCTTTTACCCTTTCCTTTTAGGAACAATAGTTGCTTATTTCTCTTACATTTTCCTTGTGCCTCTCAATCTTCTTTGTGGTGGAGTCTTTTTGTATAGGACTTTTTTATTCCTTGCCTCTGGGTTTCTTTTCCTCTGTTCTTTTTGCTTTTCTTTCCTTCTCTTCTTTTGAACAGTATTAAACATATTCCTGTCATAAGATAAGAGCAAGACAAATTGCTTTTATTTTTCCCCACTTTACCTTTTTCCGCATGTCCTAGCGCTAGCTTTCCGTTGCCACACGCTGGTGTTGTGAATATCCTTTACATTATGTTTGCGGTTAATTGTCCTCTGCCTCTCTTGCGTGTTTCATATGCTGACCTAGAGCTGGTCTGTCTTGCATTGTCTGTGTATCTCAGTGTCAGAAACCTCCTACCTGCCAGCCAACTGCAGATGGGGACTTGGCAACAGCTTTGCAGCTCTTGGTGGCTTGTAATGTGCAGTTTGTATTTCTAAGTATTTATTGCTCTAATCAGTCTCTTTGATTCTAAGTTGATTTCCCCATTCTGTATTTTAG
Seq C2 exon
CGAGAATATAAAAAGCTCTTTGAGGAAAACAAAGGAATGTATCATTTTGATGCAGATGCTGTGGAACATCTGCACCATAAAGGCAATGCCGTCCTCCAAAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-NEBL:NM_006393:9
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.079 A=NA C2=0.107
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(50.0=37.1)
A:
NA
C2:
PF0088013=Nebulin=PD(42.3=31.4),PF0088013=Nebulin=PU(55.2=45.7)
Main Inclusion Isoform:
NA
Other Inclusion 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:
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
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)