HsaEX0045713 @ hg38
Exon Skipping
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Coordinates
chr11:31801871-31806462:-
Coord C1 exon
chr11:31806402-31806462
Coord A exon
chr11:31802704-31802834
Coord C2 exon
chr11:31801871-31801912
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
ACCCATGCAGATGCAAAAGTCCAAGTGCTGGACAATCAAAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372-'24-74,'24-70,33-74
Average complexity
C2
Mappability confidence:
89%=91=86%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.986 A=0.506 C2=0.014
Domain overlap (PFAM):
C1:
PF0029213=PAX=PU(0.1=0.0)
A:
PF0029213=PAX=PU(34.4=97.7)
C2:
PF0029213=PAX=FE(15.9=100)
Other Inclusion Isoforms:
ENSP00000241001, ENSP00000368403, ENSP00000368406, ENSP00000368410, ENSP00000368424, ENSP00000368427, ENSP00000388132, ENSP00000397384, ENSP00000404100, ENSP00000404356, ENSP00000431585, ENSP00000480026, ENSP00000490963, ENSP00000491229, ENSP00000491295, ENSP00000491492, ENSP00000491679, ENSP00000491779, ENSP00000491862, ENSP00000491872, ENSP00000491948, ENSP00000492024, ENSP00000492111, ENSP00000492177, ENSP00000492181, ENSP00000492296, ENSP00000492315, ENSP00000492397, ENSP00000492476, ENSP00000492587, ENSP00000492756, ENSP00000492802, ENSP00000492822
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCCCATATTCGAGCCCC
R:
CAGCACTTGGACTTTTGCATCTG
Band lengths:
91-222
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