HsaEX6001414 @ hg19
Exon Skipping
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:8620]
Coordinates
chr11:31815580-31822404:-
Coord C1 exon
chr11:31822239-31822404
Coord A exon
chr11:31816178-31816336
Coord C2 exon
chr11:31815580-31815662
Length
159 bp
Sequences
Splice sites
3' ss Seq
TCCTATTCTTTTTGTTCCAGATG
3' ss Score
11.04
5' ss Seq
AAGGTGATA
5' ss Score
4.18
Exon sequences
Seq C1 exon
GTGTCATCAATAAACAGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGACGGCATGTATGATAAACTAAGGATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTACGCAAG
Seq A exon
ATGGCTGCCAGCAACAGGAAGGAGGGGGAGAGAATACCAACTCCATCAGTTCCAACGGAGAAGATTCAGATGAGGCTCAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAAATAGAACATCCTTTACCCAAGAGCAAATTGAGGCCCTGGAGAAAG
Seq C2 exon
AGTTTGAGAGAACCCATTATCCAGATGTGTTTGCCCGAGAAAGACTAGCAGCCAAAATAGATCTACCTGAAGCAAGAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372-'16-24,'16-23,19-24=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.814 A=0.902 C2=0.624
Domain overlap (PFAM):
C1:
PF0029213=PAX=PD(24.7=37.5)
A:
PF0004624=Homeobox=PU(29.8=31.5)
C2:
PF0004624=Homeobox=FE(47.4=100)
Main Skipping Isoform:
NA
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:
TCAATAAACAGAGTTCTTCGCAACC
R:
TGTATTCTTGCTTCAGGTAGATCT
Band lengths:
242-401
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)