HsaEX0021049 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56479154-56489426:-
Coord C1 exon
chr6:56489328-56489426
Coord A exon
chr6:56482784-56485513
Coord C2 exon
chr6:56479154-56479282
Length
2730 bp
Sequences
Splice sites
3' ss Seq
TTTCAAAATGTCTTTTGTAGATT
3' ss Score
8.46
5' ss Seq
GAGGTATAC
5' ss Score
6.64
Exon sequences
Seq C1 exon
TTCATGGACCTAAGGACTCGATATACTGCCCTGGTCACTCTCATGACACAATATATTAAATTTGCTGGTGATTCATTGAAGAGGCTGGAAGAGGAGGAG
Seq A exon
ATTAAAAGGTGTAAGGAGACTTCTGAACATGGGGCATATTCAGATCTGCTTCAGCGTCAGAAGGCAACAGTGCTTGAGAATAGCAAACTTACAGGAAAGATAAGTGAGTTGGAAAGAATGGTAGCTGAACTAAAGAAACAAAAGTCCCGAGTAGAGGAAGAACTTCCGAAGGTCAGGGAGGCTGCAGAAAATGAATTGAGAAAGCAGCAGAGAAATGTAGAAGATATCTCTCTGCAGAAGATAAGGGCTGAAAGTGAAGCCAAGCAGTACCGCAGGGAACTTGAAACCATTGTGAGAGAGAAGGAAGCCGCTGAAAGAGAACTGGAGCGGGTGAGGCAGCTCACCATAGAGGCCGAGGCTAAAAGAGCTGCCGTGGAAGAGAACCTCCTGAATTTTCGCAATCAGTTGGAGGAAAACACCTTTACCAGACGAACACTGGAAGATCATCTTAAAAGAAAAGATTTAAGTCTCAATGATTTGGAGCAACAAAAAAATAAATTAATGGAAGAATTAAGAAGAAAGAGAGACAATGAGGAAGAACTCTTGAAGCTGATAAAGCAGATGGAAAAAGACCTTGCATTTCAGAAACAGGTAGCAGAGAAACAGTTGAAAGAAAAGCAGAAAATTGAATTGGAAGCAAGAAGAAAAATAACTGAAATTCAGTATACATGTAGAGAAAATGCATTGCCAGTGTGTCCGATCACACAGGCTACATCATGCAGGGCAGTAACGGGTCTCCAGCAAGAACATGACAAGCAGAAAGCAGAAGAACTCAAACAGCAGGTAGATGAACTAACAGCTGCCAATAGAAAGGCTGAACAAGACATGAGAGAGCTGACATATGAACTTAATGCCCTCCAGCTTGAAAAAACGTCATCTGAGGAAAAGGCTCGTTTGCTAAAAGATAAACTAGATGAAACAAATAATACACTCAGATGCCTTAAGTTGGAGCTGGAAAGGAAGGATCAGGCGGAGAAAGGGTATTCTCAACAACTCAGAGAGCTTGGTAGGCAATTGAATCAAACCACAGGTAAAGCTGAAGAAGCCATGCAAGAAGCTAGTGATCTCAAGAAAATAAAGCGCAATTATCAGTTAGAATTAGAATCTCTTAATCATGAAAAAGGGAAACTACAAAGAGAAGTAGACAGAATCACAAGGGCACATGCTGTAGCTGAGAAGAATATTCAGCATTTAAATTCACAAATTCATTCTTTTCGAGATGAGAAAGAATTAGAAAGACTACAAATCTGCCAGAGAAAATCAGATCATCTAAAAGAACAATTTGAGAAAAGCCATGAGCAGTTGCTTCAAAATATCAAAGCTGAAAAAGAAAATAATGATAAAATCCAAAGGCTCAATGAAGAATTGGAGAAAAGTAATGAGTGTGCAGAGATGCTAAAACAAAAAGTAGAGGAGCTTACTAGGCAGAATAATGAAACCAAATTAATGATGCAGAGAATTCAGGCAGAATCAGAGAATATAGTTTTAGAGAAACAAACTATCCAGCAAAGATGTGAAGCACTGAAAATTCAGGCAGATGGTTTTAAAGATCAGCTACGCAGCACAAATGAACACTTGCATAAACAGACAAAAACAGAGCAGGATTTTCAAAGAAAAATTAAATGCCTAGAAGAAGACCTGGCGAAAAGTCAAAATTTGGTAAGTGAATTTAAGCAAAAGTGTGACCAACAGAACATTATCATCCAGAATACCAAGAAAGAAGTTAGAAATCTGAATGCGGAACTGAATGCTTCCAAAGAAGAGAAGCGACGCGGGGAGCAGAAAGTTCAGCTACAACAAGCTCAGGTGCAAGAGTTAAATAACAGGTTGAAAAAAGTACAAGACGAATTACACTTAAAGACCATAGAGGAGCAGATGACCCACAGAAAGATGGTTCTGTTTCAGGAAGAATCTGGTAAATTCAAACAATCAGCAGAGGAGTTTCGGAAGAAGATGGAAAAATTAATGGAGTCCAAAGTCATCACTGAAAATGATATTTCAGGCATTAGGCTTGACTTTGTGTCTCTTCAACAAGAAAACTCTAGAGCCCAAGAAAATGCTAAGCTTTGTGAAACAAACATTAAAGAACTTGAAAGACAGCTTCAACAGTATCGTGAACAAATGCAGCAAGGGCAGCACATGGAAGCAAATCATTACCAAAAATGTCAGAAACTTGAGGATGAGCTGATAGCCCAGAAGCGTGAGGTTGAAAACCTGAAGCAAAAAATGGACCAACAGATCAAAGAGCATGAACATCAATTAGTTTTGCTCCAGTGTGAAATTCAAAAAAAGAGCACAGCCAAAGACTGTACCTTCAAACCAGATTTTGAGATGACAGTGAAGGAGTGCCAGCACTCTGGAGAGCTGTCCTCTAGAAACACTGGACACCTTCACCCAACACCCAGATCCCCTCTGTTGAGATGGACTCAAGAACCACAGCCATTGGAAGAGAAGTGGCAGCATCGGGTTGTTGAACAGATACCCAAAGAAGTCCAATTCCAGCCACCAGGGGCTCCACTCGAGAAAGAGAAAAGCCAGCAGTGTTACTCTGAGTACTTTTCTCAGACAAGCACCGAGTTACAGATAACTTTTGATGAGACAAACCCCATTACAAGACTGTCTGAAATTGAGAAGATAAGAGACCAAGCCCTGAACAATTCTAGACCACCTGTTAGGTATCAAGATAACGCATGTGAAATGGAACTGGTGAAGGTTTTGACACCCTTAGAG
Seq C2 exon
AAGTCACTGGAAGAAGAAAAGAAAGAACATGTTGAAAAAGCCAAAGAATTGCAAAAATGGGTATCAAATATCAGCAAGACATTGAAAGATGCAGAGAAGGCTGGAAAACCTCCCTTCTCTAAGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_CASSETTE7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.095 A=0.402 C2=0.537
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=FE(25.0=100)
A:
NO
C2:
NO
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
- The Cancer Genome Atlas (TCGA)
- 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)