HsaEX6001409 @ hg38
Exon Skipping
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Coordinates
chr11:31806849-31817961:-
Coord C1 exon
chr11:31817809-31817961
Coord A exon
chr11:31810828-31811015
Coord C2 exon
chr11:31806849-31806925
Length
188 bp
Sequences
Splice sites
3' ss Seq
AATCTCTGTCTCCTTCCCAGGAA
3' ss Score
9.4
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ACCCTCTTTTCTTATCATTGACATTTAAACTCTGGGGCAGGTCCTCGCGTAGAACGCGGCTGTCAGATCTGCCACTTCCCCTGCCGAGCGGCGGTGAGAAGTGTGGGAACCGGCGCTGCCAGGCTCACCTGCCTCCCCGCCCTCCGCTCCCAG
Seq A exon
GAATCTGAGAATTGCTCTCACACACCAACCCAGCAACATCCGTGGAGAAAACTCTCACCAGCAACTCCTTTAAAACACCGTCATTTCAAACCATTGTGGTCTTCAAGCAACAACAGCAGCACAAAAAACCCCAACCAAACAAAACTCTTGACAGAAGCTGTGACAACCAGAAAGGATGCCTCATAAAG
Seq C2 exon
GGGGAAGACTTTAACTAGGGGCGCGCAGATGTGTGAGGCCTTTTATTGTGAGAGTGGACAGACATCCGAGATTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372-'0-43,'0-31,14-43
Average complexity
C2
Mappability confidence:
92%=83=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (disopred):
C1=NA A=1.000 C2=NA
Domain overlap (PFAM):
C1:
NA
A:
PF0029213=PAX=PU(0.1=0.0)
C2:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCTCTTTTCTTATCATTGACATTT
R:
AATCTCGGATGTCTGTCCACTCT
Band lengths:
226-414
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains