HsaINT0052586 @ hg38
Intron Retention
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56464685-56466195:-
Coord C1 exon
chr6:56466078-56466195
Coord A exon
chr6:56464757-56466077
Coord C2 exon
chr6:56464685-56464756
Length
1321 bp
Sequences
Splice sites
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
3' ss Seq
TCCTGTGTCATTTTTTCTAGTTC
3' ss Score
9
Exon sequences
Seq C1 exon
TTTGGAGACTCCCAGCAACTGCGACTGGTCCGGATCCTGCGGAGTACTGTGATGGTTCGTGTTGGAGGTGGATGGATGGCACTTGATGAGTTCTTAGTGAAAAATGATCCTTGCAGGG
Seq A exon
GTAAGGAGATGCTTATCATGATAACATCATGAAAGTATTTCAATTTTATATTATATCCAGCACCAAAACATACTGGGCATAATTTTGGTCATTTATTCCAATAGTGAATGTTTCACATTGGTCTGTCAGCCTAAAGTTCCCAAAGAACCTGTGGCAGTCATGTAAACCATATTCTTCTCATTTTTTTCTTTCTTTTTTTTTTTTTTTTTTACTTTTTCTGGATAAATATGGTGGGCGGGAAATACTAGAATCCATTTTCTTTAGGAGACTTTTACATCTACGATTTTCCAAACAATTATACCAACCAAGGAAAGGATTTTGTCTGTTATGACATAGCAAAGTAAGAGAAAAGAAAATTGAGGTGATGAAGACCGAAAATACTGGATAATAAAAGTTTAAAGGTCAAAGTTTTTATGAAATGAAGAGCAGGTGAGGAAAGCCATAATTAAAAAATTTTTAAATAATAATCCAATGCTAACTTGACTCTTTGAAGTTGCAGATTAGAACATTAAAAATATAAACATATAATACTATAGCTCTCTACATATCTTCCAGCCCAAGTCCTAAGTTAGCTTTTAATTTTTCTGTTTTGAGATCCTTCTGTCAATTTTTAAGTTCTCAACCAATTTACGTTACACGTGGTCATTTGATTGCAATTTCTAATTAGGTACCAATTACTCAGTAGGCCCATTTTTCTTCCCCCCCAAGAAAAAAACAATAAAATTGTTATAATTTTCTTTTACCTGTGAGCTCACTGTAATCCTTTTTAGCAAACAACAAATGTTCACGTCAGTGCTGTCTCCTTCAGCTACCAAGTGGGATCCCAGGTTTCCTCCTGTAGGGCCTCTTGGTTTTGGTGATGGTGTCACCATCTGGTACACATAGACATATCAGTCATCAGGCTTCTCCACCAAGGCCACCATGGATTGTTATACATGTTATACAGTAGCCCTGCTCTCTCCTGGCCAAAGACACACCTGCGAGAGAAGTAAAACAAGAACAAAAGCTCCTGTTTGTTTTATATTTTGAAAATAATGTAGCCTAAGGTAAAATGCAACTCCATTTATGAAGAAATCAGAATACATAGTGTTCTGTTGGGTTGCTTAGGAAGGTTAGCATGGCTGTGGCACAGTCTTCCAAATACATTTTTCTTATTGAGCCAATCCCTTGAGTGCTTCTTTTCCTGATGCAACTTTTCTTCTAAAATGTGTGCTAAAGGCCAGATGTGAGCACCCTTTGCATATTCAACTACTGTACTTTGTTTCTTCTTCTGCTAACAGTATTCTTTAATGTGATTGGTATCCTGTGTCATTTTTTCTAG
Seq C2 exon
TTCATCATCATGGGAGTAAAATGTTACGTTCGGAATCAAACTCTTCAATTACTACTACTCAGCCTACTATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914:ENST00000370788:89
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.920
Domain overlap (PFAM):
C1:
PF0218712=GAS2=FE(49.4=100)
A:
NA
C2:
PF0218712=GAS2=PD(2.5=8.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGGAGACTCCCAGCAACTG
R:
AGGCTGAGTAGTAGTAATTGAAGAGT
Band lengths:
183-1504
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