Special

HsaEX0004125 @ hg19

Exon Skipping

Gene
Description
ankyrin 2, neuronal [Source:HGNC Symbol;Acc:493]
Coordinates
chr4:114232411-114239776:+
Coord C1 exon
chr4:114232411-114232555
Coord A exon
chr4:114238863-114238965
Coord C2 exon
chr4:114239673-114239776
Length
103 bp
Sequences
Splice sites
3' ss Seq
GCCTCCTGCCAACCTACCAGCCT
3' ss Score
2.66
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
GTGATGACACAATGACTGGTGATGGGGGAGAATACCTTAGGCCTGAGGACCTAAAAGAACTGGGTGATGACTCACTACCCAGCAGTCAGTTCCTGGATGGTATGAATTACCTGCGATACAGCTTGGAGGGAGGACGATCTGACAG
Seq A exon
CCTTCGATCCTTCAGTTCCGACAGGTCTCACACTCTGAGCCATGCCTCCTACCTGAGGGACAGTGCCGTGATGGATGACTCAGTTGTGATTCCCAGTCACCAG
Seq C2 exon
GTGTCAACTCTAGCCAAGGAGGCAGAAAGGAATTCTTATCGCCTAAGCTGGGGCACTGAGAACTTAGACAACGTGGCTCTTTCTTCTAGTCCTATTCATTCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362-'40-46,'40-45,42-46
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.502 A=0.187 C2=0.083
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0079115=ZU5=PU(1.0=2.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGATGACACAATGACTGGTGA
R:
GAATAGGACTAGAAGAAAGAGCCACG
Band lengths:
242-345
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