HsaEX6001412 @ hg19
Exon Skipping
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:8620]
Coordinates
chr11:31822239-31823460:-
Coord C1 exon
chr11:31823419-31823460
Coord A exon
chr11:31823109-31823324
Coord C2 exon
chr11:31822239-31822404
Length
216 bp
Sequences
Splice sites
3' ss Seq
TGTCCACTTCCCCTATGCAGGTG
3' ss Score
11.06
5' ss Seq
AGCGTAAGT
5' ss Score
10.07
Exon sequences
Seq C1 exon
ACCCATGCAGATGCAAAAGTCCAAGTGCTGGACAATCAAAAC
Seq A exon
GTGTCCAACGGATGTGTGAGTAAAATTCTGGGCAGGTATTACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAGTAGCGACTCCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCATCTTTGCTTGGGAAATCCGAGACAGATTACTGTCCGAGGGGGTCTGTACCAACGATAACATACCAAGC
Seq C2 exon
GTGTCATCAATAAACAGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGACGGCATGTATGATAAACTAAGGATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTACGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372-'11-21,'11-19,13-21=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=0.015 C2=0.814
Domain overlap (PFAM):
C1:
PF0029213=PAX=FE(20.6=100)
A:
PF0029213=PAX=FE(56.8=100)
C2:
PF0029213=PAX=PD(24.7=37.5)
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:
GCAGATGCAAAAGTCCAAGTGC
R:
CTTGCGTAGGTTGCCCTGG
Band lengths:
202-418
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)