HsaEX0045713 @ hg19
Exon Skipping
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:8620]
Coordinates
chr11:31823109-31828010:-
Coord C1 exon
chr11:31827950-31828010
Coord A exon
chr11:31824252-31824382
Coord C2 exon
chr11:31823109-31823324
Length
131 bp
Sequences
Splice sites
3' ss Seq
TCTCCTCTCCCTTTCCTCAGGTC
3' ss Score
13.5
5' ss Seq
CAGGTGATC
5' ss Score
4.28
Exon sequences
Seq C1 exon
AGCCCCATATTCGAGCCCCGTGGAATCCCGCGGCCCCCAGCCAGAGCCAGCATGCAGAACA
Seq A exon
GTCACAGCGGAGTGAATCAGCTCGGTGGTGTCTTTGTCAACGGGCGGCCACTGCCGGACTCCACCCGGCAGAAGATTGTAGAGCTAGCTCACAGCGGGGCCCGGCCGTGCGACATTTCCCGAATTCTGCAG
Seq C2 exon
GTGTCCAACGGATGTGTGAGTAAAATTCTGGGCAGGTATTACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAGTAGCGACTCCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCATCTTTGCTTGGGAAATCCGAGACAGATTACTGTCCGAGGGGGTCTGTACCAACGATAACATACCAAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372_MULTIEX1-1/4=C1-3
Average complexity
C1
Mappability confidence:
80%=100=80%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.693 A=0.101 C2=0.015
Domain overlap (PFAM):
C1:
PF0029213=PAX=PU(0.1=0.0)
A:
PF0029213=PAX=PU(34.4=97.7)
C2:
PF0029213=PAX=PU(88.0=98.6)


Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATATTCGAGCCCCGTGGAAT
R:
ACCCCCTCGGACAGTAATCTG
Band lengths:
247-378
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)