Special

HsaINT0052585 @ hg38

Intron Retention

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56466078-56468999:-
Coord C1 exon
chr6:56468982-56468999
Coord A exon
chr6:56466196-56468981
Coord C2 exon
chr6:56466078-56466195
Length
2786 bp
Sequences
Splice sites
5' ss Seq
CAGGTATAA
5' ss Score
7.46
3' ss Seq
TTTCTTTCTTCACTGAACAGTTT
3' ss Score
8.11
Exon sequences
Seq C1 exon
TTCTTCCTGGGAAATCAG
Seq A exon
GTATAAACCAGTGGAATGTATTCTCAAGTTCCTGATGATTTTTTTTTAACTTTAATTCATAGTCATTAAAGCTTGCCATGGCCAATCTTTCCCATGCTGTCTCCCTAGCTACTACATTGTTGGTTGGCGTGGTGTTTCTGTAAACGCTATAAGGGTCCTTGATCCAGGATTCCTTTTTGCCTTGTGTCTCTCAGATGAGGAGATTACTTTTAAGCAAACCAGATAATGAATTGTAGCTTGGCTTGCTACAATGTTACGAATGCAATTTTTAATTCCCATTTTTTATAATATGAGCATATATTTTATGCTAGTACTCATTGGAACACAAATTTGATTCTCCACACATCTCTGTGTTAGGCTCATTGGTGTTTAACTGTTTAGGACATACGGTCTACAGTAGCTGAGAAGGATCAGCCTCAGGCAGTGACACAGGAAGACAGAGAGCCAAGAGGTCTCCTTGGCACTCAGCCACAAGTAACAAGTTCTCTCCAAAGAAGCTATTTGCCATTTGTTCAAAATCACCAATTTTGGGGCTTGGCATCTCTGAGTAGAAATGTTAACTCAGTAGGCTTTAAGTAATATTCCTTTTGAGGAAAGTTATCGCTATAATATATGCAGAATCTTAAAGTCACATTTTATGCCATCTTGATCGAATATTTATATTATTGGCACTTAAGTCAATATAAAATGTTTATGTTGACATTTAAGTCAGTATAACCTGTGTAGTGGCACTACATCATGATCAGAATTTTGAAACTAAGGAGATACTCTGTTTTGATTTAAACATGTTCATGAAGCTTTTATTTTATTTTATTTTATTTTACTTTGGAAAGAACCATGCTATCTATAGTATCTGACCATATTACATTAGATATGACTCTGCCACTCCATTTTAAAGCCATATTACATCTCAAGCTTCAAATTATCTATTACCTTTATTTATTGCAAGCAAATAATTTATTTAAAATAGAAATAGTTACTTGGAATAGATTTTTAAAACTTCCATTAGTTATACTATAATACTGAAATGTTACTTTTCCATTCTTGCTATTTTCGGAGTCAGCAAATGGGAGAGCATCTTTTATTTGCAGAGAGAATGAGAGAAATACCTCAAAAGGTTTTACTCACTGAAAGCACAGTCAGCAACATTAGTCTATTTTCTCTTGTCTTGTGATTTGGTTACTGGGAATATTTAGAGAAATTCTGAAGATGATGTTAGTTGTCTGGAGAATGCCTAATTAAAACAGAAAATTATTTGTATTCATTACACTTGAAATATCATCTCTATAAGGAACTTTTAGTTATTTCCTTATAACTTTTGTTTTGAGTATAATCTTGAACCAAAATCATCTAGTCCCATTATCTGGTTCCTTAAGGGTAATTTTCTTTAAATCCCCTCCTTTCCCTTTGCTTATTAGCGGCACCAATTTTTTTCTAACAAAATAAATTTACACTTTTATTTTTAAATTTTAATTAACATTTCAGGAAGAATTATAGGAAAGTTTAAGTCTCAATGTTTAAGGAAAAAAGATTTAGAAATAGTGGTTTTTAAAAGTTTGATGGAAAAACACATGAGTTCCTGCTGGTGCATTTTACATGCTTTCTAGGTCCTTCTGAGTTTTAGGATCCTGAGGGATTTGGTTGGTATTGTTTTTGGGTTTTCTTCTTGAAACTCAGTATTAAAACACTGAAAAGTAGCAGATTTTTTTCTACCTAGAGTTTTCTGTTTATCCATCATGAGCCCAAATAAAGTCACAATTGTATGTTACCTGCTTTACAAAGAAGCCATTTATGTTTAATTGACTGTTCATTTTGCTTTCTTGTCTGCTGGGATGACAACCGTGAAATTCAGTCTGGTAGTTTTTATGAGTTGGACATGAACCTATTAGAAATGATTTAAAGTATAAAATCATTTCTCACAGGCTTTCAAAACATAAACCTGTGATCAGAAACCTGGAATCTAGAAATTTATTCAGGACTTGCAGAATTTGTAGCATATCTACATTATTGGAGATCTATTGAAAGGGCAAGAAAAAGATGATTGCCTGTTAGTATCAACAGTTATGGTACAGACAACTATGAGAGAAACCTTTTAGATTTGGCAGCTGTATCATTAATAATGTGTCATTGGCTATTCTAATATTACAGTAATCTAAAATGGCATATTAATCCAGCCTTTAACAAATTGGTTTACCAGATCATTAGGGATGCAGAAATTTTAGTTGACTGTGAAATTTATATGAGTCATACTCATTTACTTTATTCTTTTTAAGTGAAAACTGCCCTTACAGAAAAGAAAATGAGTTTATAAAGATTTCTCACAGAGTTCAGTGGAAAACGGTTTTACTGTAAGAGAGAGTTTAATGAAGAAGAATCAAAGCTTATTAAATTTTTCTTAGAATCATTTTATTTTGGATAAGCCCTGGGCAAGTGGGCCAGTGCTTACTTTCATGGCTATGTTTAATTCCTAGAAACATTTTAAAATTACTGCCTTACTAATATTGTTTCTGTCATAAGAAAGAAAAATAATTTTTAGACCAAAGCTTTGGTAGTATACTTGATAACCTTTGTAATCTTTTTTTTTTCAAACTGTTTCCTTTGGGCTAAATCAGCATGCAGCCGTCTAACACAAATCATTACAAACCCCCTTTTCTGAGATTTTACTAATCGCTATGAACTAAGCAAGAAATTAAAGTCGGTTGCTTTAGCTACTGCAAATTGCACATCATCCTGTAGTTTAGAATTATTATTGACAACTAGAGGTTCTTTCTTTCTTCACTGAACAG
Seq C2 exon
TTTGGAGACTCCCAGCAACTGCGACTGGTCCGGATCCTGCGGAGTACTGTGATGGTTCGTGTTGGAGGTGGATGGATGGCACTTGATGAGTTCTTAGTGAAAAATGATCCTTGCAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914:ENST00000370788:88
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=0.000
Domain overlap (PFAM):

C1:
PF0218712=GAS2=FE(6.3=100)
A:
NA
C2:
PF0218712=GAS2=FE(49.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
(DST)
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