Special

HsaINT1011968 @ hg38

Intron Retention

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56463565-56464756:-
Coord C1 exon
chr6:56464685-56464756
Coord A exon
chr6:56463765-56464684
Coord C2 exon
chr6:56463565-56463764
Length
920 bp
Sequences
Splice sites
5' ss Seq
TAGGTTGGC
5' ss Score
2.04
3' ss Seq
GTTGTGTGTGTATAACCCAGCCA
3' ss Score
2.26
Exon sequences
Seq C1 exon
TTCATCATCATGGGAGTAAAATGTTACGTTCGGAATCAAACTCTTCAATTACTACTACTCAGCCTACTATAG
Seq A exon
GTTGGCAACCTCTCTCTTTGCCTCTCCCCTCTTTCCTTTTCTCTTTCCTACTTTTCCATTCTTGCTTCAGTCATTTGTTTTAAAATAACATGCTTCATCCATCGCGTATGGCTTAACTCATATCCAGCTGAGCTGGTGCTTCCAAATTTAAATTCTGAAAATTTGATGACTTTGGTTGTGTTACACATGCAGGTGTTATAAGTGATCAAACACATGCTAACACGTTGCTCACCGGGTTCTTGTGGAGTGTTCTCCGTGTGCGTATGTGTTTGTATGAGTGCTGCATCACTGACTACCTCACAGATCCTTGGGTCTGGTGTTTGTTATTGCATGTTGGTAAAACAGTTTTTCAAGGCATAAAATAAAAATACTAGCTGCCTCATTTAAGTGAAAAATCCAGAAGTTTATATGTTGTCATCATGACTAACAAGCCATCAATCATTGTGTGTAATTATATTCTTTAATTTATCCCCATGTTGAAATACTGGCATTCTCTTTACCTCAATAGTACATGCAAAAGACACAGTCCCTGCCTTACTGGTCTGTCTTCTCAGTGTGATGAGAGGGTAATGAAACCATGTGGGCATCTGTAGCTGGTGGATTAATGATATTTTAGCATGAGCTTTCCATTTTCATGCTGACACTTTCTTTAATAGTGGTTATTCTTGCTGGTGTCTAGTGTTAGAATAAGCACACTTTATTTTTTCCTCCCCGAACTCACCTGTATCCAAAAGGAATGCATTGTAAAGGAATGCATTTAACTTTTTGTTATGCTGAGTTGGAGTTGGCATGGCAAAAAGATGTTCTTGAAATTCTCAACGTGATCTCTGGTGCCAGGTGGCCGTTCTTCCCATTAACGATTGAGCGCCTCTTCTTTTCCGTCTTTTCTTTGTGTGCATTGTTGTGTGTGTATAACCCAG
Seq C2 exon
CCAAAGGAAGGACAAACATGGAACTGCGTGAGAAGTTCATTTTAGCAGATGGTGCCAGCCAGGGTATGGCTGCTTTCCGACCCCGAGGCCGAAGATCCCGGCCATCATCACGAGGCGCTTCACCCAACAGATCCACTTCTGTGTCCAGTCAGGCTGCGCAGGCGGCCTCCCCACAGGTCCCTGCCACCACCACACCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914:ENST00000370788:90
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.920 A=NA C2=0.701
Domain overlap (PFAM):

C1:
PF0218712=GAS2=PD(2.5=8.0)
A:
NA
C2:
PF0218712=GAS2=PD(2.5=3.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCATCATGGGAGTAAAATGTTACG
R:
CTTGGGTGTGGTGGTGGC
Band lengths:
270-1190
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains