Special

HsaEX6047867 @ hg38

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56625157-56628161:-
Coord C1 exon
chr6:56627999-56628161
Coord A exon
chr6:56627204-56627287
Coord C2 exon
chr6:56625157-56625264
Length
84 bp
Sequences
Splice sites
3' ss Seq
TAAACTGTGTATATTTATAGATG
3' ss Score
5.73
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
GTTACGGGACTTAGAGGGCATTGGCAAATCACTGAAGTACTACAGAGACACTTACCATCCTTTAGATGATTGGATCCAGCAGGTTGAAACTACTCAGAGAAAGATTCAGGAAAATCAGCCTGAAAATAGTAAAACCCTAGCCACACAGTTGAATCAACAGAAG
Seq A exon
ATGCTGGTGTCCGAAATAGAAATGAAACAGAGCAAAATGGACGAGTGTCAAAAATATGCAGAACAGTACTCAGCTACAGTGAAG
Seq C2 exon
GACTATGAATTACAAACAATGACCTACCGGGCCATGGTAGATTCACAACAAAAATCTCCAGTGAAACGCCGAAGAATGCAGAGTTCAGCAGATCTCATTATTCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'80-86,'80-85,81-86=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.381 A=0.000 C2=0.381
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:
AGGGCATTGGCAAATCACTGA
R:
GCCCGGTAGGTCATTGTTTGT
Band lengths:
181-265
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains