Special

HsaINT0052586 @ hg19

Intron Retention

Gene
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56328363-56330993:-
Coord C1 exon
chr6:56330876-56330993
Coord A exon
chr6:56328563-56330875
Coord C2 exon
chr6:56328363-56328562
Length
2313 bp
Sequences
Splice sites
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
3' ss Seq
GTTGTGTGTGTATAACCCAGCCA
3' ss Score
2.26
Exon sequences
Seq C1 exon
TTTGGAGACTCCCAGCAACTGCGACTGGTCCGGATCCTGCGGAGTACTGTGATGGTTCGTGTTGGAGGTGGATGGATGGCACTTGATGAGTTCTTAGTGAAAAATGATCCTTGCAGGG
Seq A exon
GTAAGGAGATGCTTATCATGATAACATCATGAAAGTATTTCAATTTTATATTATATCCAGCACCAAAACATACTGGGCATAATTTTGGTCATTTATTCCAATAGTGAATGTTTCACATTGGTCTGTCAGCCTAAAGTTCCCAAAGAACCTGTGGCAGTCATGTAAACCATATTCTTCTCATTTTTTTCTTTCTTTTTTTTTTTTTTTTTTACTTTTTCTGGATAAATATGGTGGGCGGGAAATACTAGAATCCATTTTCTTTAGGAGACTTTTACATCTACGATTTTCCAAACAATTATACCAACCAAGGAAAGGATTTTGTCTGTTATGACATAGCAAAGTAAGAGAAAAGAAAATTGAGGTGATGAAGACCGAAAATACTGGATAATAAAAGTTTAAAGGTCAAAGTTTTTATGAAATGAAGAGCAGGTGAGGAAAGCCATAATTAAAAAATTTTTAAATAATAATCCAATGCTAACTTGACTCTTTGAAGTTGCAGATTAGAACATTAAAAATATAAACATATAATACTATAGCTCTCTACATATCTTCCAGCCCAAGTCCTAAGTTAGCTTTTAATTTTTCTGTTTTGAGATCCTTCTGTCAATTTTTAAGTTCTCAACCAATTTACGTTACACGTGGTCATTTGATTGCAATTTCTAATTAGGTACCAATTACTCAGTAGGCCCATTTTTCTTCCCCCCCAAGAAAAAAACAATAAAATTGTTATAATTTTCTTTTACCTGTGAGCTCACTGTAATCCTTTTTAGCAAACAACAAATGTTCACGTCAGTGCTGTCTCCTTCAGCTACCAAGTGGGATCCCAGGTTTCCTCCTGTAGGGCCTCTTGGTTTTGGTGATGGTGTCACCATCTGGTACACATAGACATATCAGTCATCAGGCTTCTCCACCAAGGCCACCATGGATTGTTATACATGTTATACAGTAGCCCTGCTCTCTCCTGGCCAAAGACACACCTGCGAGAGAAGTAAAACAAGAACAAAAGCTCCTGTTTGTTTTATATTTTGAAAATAATGTAGCCTAAGGTAAAATGCAACTCCATTTATGAAGAAATCAGAATACATAGTGTTCTGTTGGGTTGCTTAGGAAGGTTAGCATGGCTGTGGCACAGTCTTCCAAATACATTTTTCTTATTGAGCCAATCCCTTGAGTGCTTCTTTTCCTGATGCAACTTTTCTTCTAAAATGTGTGCTAAAGGCCAGATGTGAGCACCCTTTGCATATTCAACTACTGTACTTTGTTTCTTCTTCTGCTAACAGTATTCTTTAATGTGATTGGTATCCTGTGTCATTTTTTCTAGTTCATCATCATGGGAGTAAAATGTTACGTTCGGAATCAAACTCTTCAATTACTACTACTCAGCCTACTATAGGTTGGCAACCTCTCTCTTTGCCTCTCCCCTCTTTCCTTTTCTCTTTCCTACTTTTCCATTCTTGCTTCAGTCATTTGTTTTAAAATAACATGCTTCATCCATCGCGTATGGCTTAACTCATATCCAGCTGAGCTGGTGCTTCCAAATTTAAATTCTGAAAATTTGATGACTTTGGTTGTGTTACACATGCAGGTGTTATAAGTGATCAAACACATGCTAACACGTTGCTCACCGGGTTCTTGTGGAGTGTTCTCCGTGTGCGTATGTGTTTGTATGAGTGCTGCATCACTGACTACCTCACAGATCCTTGGGTCTGGTGTTTGTTATTGCATGTTGGTAAAACAGTTTTTCAAGGCATAAAATAAAAATACTAGCTGCCTCATTTAAGTGAAAAATCCAGAAGTTTATATGTTGTCATCATGACTAACAAGCCATCAATCATTGTGTGTAATTATATTCTTTAATTTATCCCCATGTTGAAATACTGGCATTCTCTTTACCTCAATAGTACATGCAAAAGACACAGTCCCTGCCTTACTGGTCTGTCTTCTCAGTGTGATGAGAGGGTAATGAAACCATGTGGGCATCTGTAGCTGGTGGATTAATGATATTTTAGCATGAGCTTTCCATTTTCATGCTGACACTTTCTTTAATAGTGGTTATTCTTGCTGGTGTCTAGTGTTAGAATAAGCACACTTTATTTTTTCCTCCCCGAACTCACCTGTATCCAAAAGGAATGCATTGTAAAGGAATGCATTTAACTTTTTGTTATGCTGAGTTGGAGTTGGCATGGCAAAAAGATGTTCTTGAAATTCTCAACGTGATCTCTGGTGCCAGGTGGCCGTTCTTCCCATTAACGATTGAGCGCCTCTTCTTTTCCGTCTTTTCTTTGTGTGCATTGTTGTGTGTGTATAACCCAG
Seq C2 exon
CCAAAGGAAGGACAAACATGGAACTGCGTGAGAAGTTCATTTTAGCAGATGGTGCCAGCCAGGGTATGGCTGCTTTCCGACCCCGAGGCCGAAGATCCCGGCCATCATCACGAGGCGCTTCACCCAACAGATCCACTTCTGTGTCCAGTCAGGCTGCGCAGGCGGCCTCCCCACAGGTCCCTGCCACCACCACACCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-DST:NM_015548:80
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.703
Domain overlap (PFAM):

C1:
PF0218712=GAS2=FE(49.4=100)
A:
NA
C2:
PF0218712=GAS2=PD(2.5=3.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
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