DreEX0013101 @ danRer10
Exon Skipping
Gene
ENSDARG00000043313 | ank2b
Description
ankyrin 2b, neuronal [Source:ZFIN;Acc:ZDB-GENE-041010-165]
Coordinates
chr7:57615424-57620875:-
Coord C1 exon
chr7:57619088-57620875
Coord A exon
chr7:57615980-57616063
Coord C2 exon
chr7:57615424-57615501
Length
84 bp
Sequences
Splice sites
3' ss Seq
GAAAATGCCTTTCCCTGAAGATC
3' ss Score
5.25
5' ss Seq
AAGGTATCC
5' ss Score
8.33
Exon sequences
Seq C1 exon
GAGTCATGTATGTAAACAAGAAAGGAGTGGGGAGGGTTTGGTTTTTGGAGTAGAATCAGCGGGTCAACAATCAAGCATGACAACAGCTATTGCTCAAAATGTGTCCAAACATGCCAGTGATCTTTTACCTGATAATGGTACAGAGAATGGTACATTTAATGACAGCTCTGACAGCATTAAACTTGAAGCGTTGGTCGACTCACCAAGTGCCAGTCTTGCTGAAGTGGAGGCTCCATTGAGCTCTGAAGAAAGTTGTAAACATGAAGGCATGGCTGAAACTCCAGAAACAAGCCCTGAGAGCCTCTCGTTATCACCTCAGCAAAAAGCATCTCAGTCTATACTTGCAAAAGCCTCAAATTCCACAGCAGACACACATAAAGCCAAAACAAGTAAAGTATCTGTTTCATTTTCTGCTGAGATGAAGACAAAAATTGAACAGGCATCTGAGGCTACAGTTCATCATCCAGCACTGAGCAAAGCAGTGGATGAACCAACAAAAA
Seq A exon
ATCCCTTGGTCATTAGGCCCAGATGGGACAACCCTGTTGAGACGCAGATGGAACGAATCCCTGCTGATAAAGTCCGAAGTCAAG
Seq C2 exon
TAGATCCACAGGATGAGGCAGACAGAAAAGAAAGTCGTCTGGCTGTGATAGCAAACCACCTTGGTTTCAGCTGGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000043313_MULTIEX3-4/4=3-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.890 A=0.894 C2=0.444
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0053117=Death=PU(19.0=59.3)
Main Skipping Isoform:
ENSDART00000142580fB1179
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCTCAAATTCCACAGCAGA
R:
TGTCTGCCTCATCCTGTGGAT
Band lengths:
176-260
Functional annotations
There are 1 annotated functions for this event
PMID: 31285321
Giant ankB (contains HsaEX0004136) localizes to periodic axonal plasma membrane domains through L1 cell-adhesion molecule protein, where it couples microtubules to the plasma membrane and prevents microtubule entry into nascent axon branches. Giant ankB mutation or deficiency results in a dominantly inherited impairment in selected communicative and social behaviors combined with superior executive function.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]