HsaINT0112154 @ hg19
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152341853-152346591:-
Coord C1 exon
chr2:152346485-152346591
Coord A exon
chr2:152342448-152346484
Coord C2 exon
chr2:152341853-152342447
Length
4037 bp
Sequences
Splice sites
5' ss Seq
GGAGTAAGT
5' ss Score
8.57
3' ss Seq
TTTTCCATCCCCACGAATAGAAA
3' ss Score
4.37
Exon sequences
Seq C1 exon
CTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATCTACTGCTGGA
Seq A exon
GTAAGTGAATAACAACTCACTTAAATAAATTATTCTTAATTTTTGATATGTGCAAACATGATTATAAGTATTAGGTATTACGGTTTTTTTTAACCAAACCTTCTATTTTATATAATGCTCTTTTATTACATGTTTCATATTAATGATATCAGAAAACTTTCATTATCTAACTCAAATTAATGAAAAGCATTATTCAATAACTTAAAAAAAAAACCCAAACCTAGAGCAAAGCATCAGTTTTGGCTCATTGGTCTCACCTACTATCTTAAACATTTGCTGGGCATAGTGAATCATGCCTATAATGCCAGCACTTTGGGACGCTGATGCAGGAGGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACTTCATCTCTACTAAAAACCAAAAAATTAGCCAGGTGTGGTGGTGCATCTATAGCCCCAGCTACTGAGGAAGTTGAGGTGGGAGGATTGCTTGAGCCTGGAAATTTGAGGTTGCAGTGAGCCATAACTGCACCACTGTACTCCAGCCTGGATGACAGAGGGAGACCCTGTCTCAAAAATCAAGAATGTATAGATGTATGCAATGTGCCCACATATATACATGCCTTATCTTAGATCTCCCCTATTAATATATATAGAAATGGTAAGCCAAATCATCTTCACAGTTCACCAGACTACTTCACAACTCTTAGTTTAAAACCCTGGATCTCATTCATAATATCCTCAAAAGCCTAATACTTTAGGATTGATATGAACAATCTTTGTATGAAGACAACTGTCTTTATTAAATGACATACAAGAAGGTCTAAATAAGTGTTAGACCTATTATATTTAAGGAAGGGAATACTGTAAAGTTCTAATTTTCCCTGAAATAAACCAATGCATTCAATTCCAATATAAATCCCAATAGCATTTAAAGAAACTGTGCTAACCCTAAAATTTGAAAAAGCTGCAAGGATAATCAAGTAAAATTTGAAAATGATAATACTTAAGGACTCAACTAAAAAAGAACAAAACATACTATAAAGCTATTAAAATTAAATATGGATTTAGCATGGCAATAGATACAAAATATCGATTTAGCATGGCAATAGATACAAAAATAGATGAAGTCCAGAAACAGACCCTAAAAGAATTATAAATCAGCAAGAAAGGGGTAAGTTATTTAATTATATGATCTGAGGTAACCAGTTATCTATTTAGTAAAATAATAAAATTAGATACCCATCTCAAAGCATAAACTGTAGCTGTACCAAAGATTTAGATGTAAAATACAAAATTGTAGAAGTACAAAGAATAATACAGAATACTTTTTTTTTATTTTTAGAGACAGGGTCTCACTCTATCACCCAGGCTGCAGTGTGGTGGCATGATCACAGCTCGCTGCAGTCTCGACTTCATGGACTCAAGCAATCCTCCAGCCTCAGCCACCAGAATAGCTAGGACTACAGGTGTATATGCCATTCTAGGCTAATTTTTTTTTTTTTTTTTTTGGTAGAGGCTCACTATGTTGCCCAGGCTGGTCTCAAACCCCTAGGCTCAAGCCCTCTGCCTGCTTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACTCAGCCCGGCCACAATTATTTTAAAATATAAAGGGGAAAGCCTTCCCAGGCAAATTCCAAAATCTAGAAGTATAAAAGTCTGGCCAATTTGATCATAAAATTTTAAATGTTTCTATAACAAATAAATACAAACATGTCAGACTGGGAGAAAACATTTACAGCATACATAACAAAAATATTAATATTGAAAAAGAATAAAGAACTCTAAAATTCACTGATAAATTATTCCCCTCGCCCTCAAAATAGGACTTGGAAGACTAAGAATAGATAATTTATGGCAAAATAAATATAAATGGCCAACAGAAAAAGGTGTTCACCATGACTAGTAACCAGGAATATAAAAATAAAAGTGCTAGTAACCAAGAATATAAAAATAAGATAAAGTACATAATACAAAGTATCAAATTGAATCAAATATCATATTGTATCATATTCGAACATTTTAACAGAAAACTTAAAAAATTAGGTCAGGAATAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGTGGGAGGACTGCTTGAGTCCAGGAGTTTAAGACCAGCCTATGCAACAAGGCAAAACCCCATCTCTATTTGTAAAATTATTTTATACATATATATATATGTGTGTATGTATAAAATAAGTTTAAACACACATGCCATTTGACCTAAAACTTTTACCTTCAAAAGCTTTTTCTTCAGAAATTATTTGCCCAAAGATAAACGGTAGGATGCTCATTATAGTGTAAGAAAAAATGGTGACAACTAAATGTCCAGAAAAATGAAAATGGCTGAATAATTCGTGATATTATTAAAATGTGAAATTCTCTGCAGCAGTCAAAAAGGGTAAGATACAGCTATATTTACATGGAAAGACTTCCAAGCTATATTAAATGGAAAGAACAAATCACAGTATTATTTATAGTAATGTTCCACTTATGCAAAGGGGAAAGGAAATCTATTTGTGAATTTGAATATATGCATGTGATTTTGAATATATGCATGTGAATTTCAAAATGCAAGAAAAAACCATATAGGTTACATCCAAAACTACTAACCAGTGGCTGCTCCTAGGAAGAAACTTTTGATATTATCACTTATTATATACCTCCAAATTATTACAATTTTAACACTGTGGAGGATAGCTTTGAGAAACTTTTACTACTCGTATGCTCCCAAATTCCCAGAGTGAAAGATGACATGCAATAGTGCTACGGGTTTTCAAATTCTTCTCTAAAATACAAGACTGACCTCTTCGAAAGGTAGAAAAAGGCCATAAATAAAATTAGCAGCATATTCTGTCTTTTCTGTCAGTACACACACACGCACATGCGCACACACACACAATTTCATGCATACATAACTTAGTATGAAGTTCATAAAGTGTACAATGATTTTAAGCTTTTTTTCCAACCATCTCCATAATCTAATTTTAGAATACTTTCATCACCATAAAAAAAACTGTATTCAAAACTCTTCTGGTGAATTAAAACAAACAAACAAATGCTGGTGCCCATTGGCATTCATTCTCCATCCCCTTTCTGCTCCATCCAATCCTAGGTATCCATTTCCTGTCACTATATTATTTGGCTACCTAAGACATTTCATATAAATAAAACCATACAATATACTGACCTTGGTGCATGGCGTCCTTTACTTTTGAAGTTCATCCATGTTGTATCATGTGTCAGTACTTCATTCTTGTTACTACCCCATTCTTGTTACTACCCAATAATAGATCTGTATGGATATACCAGATCTTGCTTATGCATTCATCAGTTGGTGGGCATTTAAGTTGTTTCCACTTTTTGGCTATTATGAGTAATGCTGCTACGGACATGGATGTACAAATTATTGTGCAGACCTATGTCTTCATTCTTCTTGGGTATACACCTAGGAGTGGAATTTGCTGGGCCATAGGGTAATGCTGTATTTAACATGTGATAACTGCCAAATTCTTTTCCAAGGTGGCTGCACTCTTTTCCACTTCCACCAGTGGTTTATGAAGGACCCAATTTCTCCACATCCTTTCTAATGTCTGTTATTGTCTGTCTTTTTTATCATCACCATTCTGGCATGTGTGAAGGGGTATCTCATTGTGGTTTTAATAATTTGCATTTTCCAGATGACTAATTTTGAGCATCCTTTTGTGTGCTTTTTGGCTATTTGTCTATCTTTTTTGGAGAAATGTCTATTCATATCCTTTGCCTCTTTTGGTGGGGGAAGGCATTGAGTTGTAGGAGTTCGTCATATGTTCTGGATATTAATTGCCTATCAGATACATGACTTGCAAGTATTTCCTATTTTGTGGGTTCCTTTTACTTTGTTGATGCTTGCACATTCTCTTTTGTTCAACTTAAGTTTGTGGAGTCAGTCATGAGAGATCTTACAAATAGATGTGTGTTAACTGTTGCAAATCCAACATATAATATTTCCCCTTTTCCATCCCCACGAATAG
Seq C2 exon
AAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGACCGGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAGTTCTCAAGCTGCCTATGGTTTTTCTGTGTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCCTAGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGTTCACCTTTTCCTTGCTGATTGCTAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAATACAAACCAGCAACTAATAAAACCTCTAATTCTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-NEB:NM_001164508:181
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.750 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF146041=SH3_9=WD(100=86.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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
- 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)