Special

HsaINT0052517 @ hg19

Intron Retention

Gene
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56489955-56492085:-
Coord C1 exon
chr6:56492002-56492085
Coord A exon
chr6:56490063-56492001
Coord C2 exon
chr6:56489955-56490062
Length
1939 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
TTATTGACTCCTTTATACAGGAC
3' ss Score
8.27
Exon sequences
Seq C1 exon
ATGCTGGTGTCCGAAATAGAAATGAAACAGAGCAAAATGGACGAGTGTCAAAAATATGCAGAACAGTACTCAGCTACAGTGAAG
Seq A exon
GTAGGAAGATTCATTAACTTTAGTAAAATTTAATATTCAGGTTTGTGATTCTACATGTACTGTTAAAGCCATGCAAGTCATTTCACTCAGTGTTTAAAAGAATCTTCATTTGAACTTTTTTGACACTTATCTAATAATTCTTTGTGAAATTAGTCACATGACAGCCCCCCAGTTCATTCGTCTTCTTCTCTCTCACATATGTACACCCCTGCCACTCCCAGCCACCAGAATACATAGCTCTGTAGTTGGTTTCTTATCACTTTTCTTTCTTTTTTCTTTAACATTGTTAGGGTATTTCATGGGAGAGCTTCTAACTTTCTCACTTAGGGGGACACTTTTCATGCTTTTCAAGTTGTCATTGACAACTTTTCAGTTTTAGCCCTCCAGATCCATAGTTCCATTGCTTAGCTGGAGGAAAGGGGGGCTGCATAGGGCTACACTATTGTTACATATATTTTCATGAGCTTCTAAACAGACTTGGAAATTACCCGACCACCCTACATGTTTCTGATTTTGTCCCCATCTTGGAAGCATCTCCAGGATTGGATAGATTCCTAAAAATGTAATTTTGCTCTACAGTCATGTGTTGTTTAGCAAAGGGGATATATTCCGAGAAATGCGTTGTTAGGTGATTTTTTCATTGTGCGAACATTGTAGAGTGTACTCACATAAACCTACATGTTACAGCTTTCTACACACTTAGGCATATGGTACAGCCTCTTGCTCCTAGACTATAAACCTGTACAGCATGTTACTGTACTGAATAGTGTAGGCAACTGTAACATAATGGTATCTATTTGTGTATCTAAACATATTAAAGGTATAATAAAAATAGGGAATAAAATACAAAACATGGTACACTTGTATAGAGCACCTACCATGAATGGAGCTTGCAGGACTAGAAGTTGCTTTGGTGAGTTAGTGAGTGAGCTCTGAGTGAAGGTAGAGGCCTAGGACATTACTGTACACCTCTGTAGAATTTATAAACACTGTACACTTAGACTACACTAGCTTATAAAAAAATTTCTTCAATAATAAATTGACATTAACTTACTGTAACTTTTTTACATTATAAACTTGTAATTTTTTTAACCTTTTGACTCTTTTCTCATAGCACTTAGCTTAAAACAACGAACACATTGTACAGCCATACAAAAGCATCTTCTTTCTTTATACTTTATTCTGTAAGCTTTTTTCTATTTTTAATTTTTGGTTTTTTTTTTTTTTTTTTACTTTTTAAACTTCTTTGTTAAAGCCTAAGAGACAAACATACACATTAACTTAGGCCTATATAGAGTCAAGATCATCAATATCATTGTCTTACACCTCCAAATCCCATGGGAAGGTCTTCAGGGGCAATCACATGTATGGAGCTGTCTTCTCCTATGATAACAATGCCTTTTTCTGGAATACTTTCTGAAGGACCTATCTGAGTCTGTTTTACAGTTAACTTTTTTTTTTTTTTTAAATAAGTAGGAGTACACTCTAAAACAACAACTAAAAGTATAGTGTGGTAAATATATAGACCAGTAACATAGTCATTTATTACCAAGTATTACATACTGAACATAATTGTGTGTGCTATACTTTTGTGTGACGGGCAGCACAGTAAGTTTGTTTACACCAGCATCACCACAAACGTGAGTAATGCATTGTGCCACGACATCACTAGGCGATAGGTATTTTTCAGCTCCATTATAATTTTATGGGGCTACCATCATGTATACGGTCTGTCTTTGACTGAAATGTTTCATGTGAAACACGACTATATTTTCTTTATTTAAACTTAATTTAATGAATCTAGGTTCTAATGATCTGTGTCAAATCACTAAAGTTATTTTAGTGAATCTAGGTTCTAATTATCTGTGTTAAATTATTGTAGAATGAAACTCTAGTACTTTGCTTCAATTCATTTTATCTTATTGACTCCTTTATACAG
Seq C2 exon
GACTATGAATTACAAACAATGACCTACCGGGCCATGGTAGATTCACAACAAAAATCTCCAGTGAAACGCCGAAGAATGCAGAGTTCAGCAGATCTCATTATTCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-DST:NM_001723:20
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.367
Domain overlap (PFAM):

C1:
PF083857=DHC_N1=FE(21.2=100)
A:
NA
C2:
PF083857=DHC_N1=FE(27.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGGTGTCCGAAATAGAAA
R:
TCTTGAATAATGAGATCTGCTGAACT
Band lengths:
190-2129
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Pre-implantation embryo development