Special

HsaEX6047866 @ hg38

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56627204-56629443:-
Coord C1 exon
chr6:56629250-56629443
Coord A exon
chr6:56627999-56628161
Coord C2 exon
chr6:56627204-56627287
Length
163 bp
Sequences
Splice sites
3' ss Seq
TTCGGTTACTATTCTCTTAGGTT
3' ss Score
5.74
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
CAATGGAGATCTGAAGTAGATGAAAAGAGACAGGTATTCCATGCCTTAGAGGATGAGTTGCAGAAAGCTAAAGCCATCAGTGATGAAATGTTTAAAACGTATAAAGAACGGGACCTTGATTTTGACTGGCACAAAGAAAAAGCAGATCAATTAGTTGAAAGGTGGCAAAATGTTCATGTGCAGATTGACAACAG
Seq A exon
GTTACGGGACTTAGAGGGCATTGGCAAATCACTGAAGTACTACAGAGACACTTACCATCCTTTAGATGATTGGATCCAGCAGGTTGAAACTACTCAGAGAAAGATTCAGGAAAATCAGCCTGAAAATAGTAAAACCCTAGCCACACAGTTGAATCAACAGAAG
Seq C2 exon
ATGCTGGTGTCCGAAATAGAAATGAAACAGAGCAAAATGGACGAGTGTCAAAAATATGCAGAACAGTACTCAGCTACAGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'79-85,'79-82,80-85
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.381 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(DST)
Chicken
(galGal3)
HIGH PSI
(DST)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGGTATTCCATGCCTTAGAGGA
R:
TGTAGCTGAGTACTGTTCTGCA
Band lengths:
243-406
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains