HsaEX6001410 @ hg38
Exon Skipping
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Coordinates
chr11:31806402-31811134:-
Coord C1 exon
chr11:31810828-31811134
Coord A exon
chr11:31806849-31806925
Coord C2 exon
chr11:31806402-31806462
Length
77 bp
Sequences
Splice sites
3' ss Seq
CTCCTTCTGTTTTGTCTTAGGGG
3' ss Score
10.74
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
Exon sequences
Seq C1 exon
GCCATCACCAATCAGCATAGGTGTGCTGGCTGCAGCCACTTCCCTCACCCACACTCTTTATCTCTCACTCTCCAGCCGCTGACAGCCCATTTTATTGTCAATCTCTGTCTCCTTCCCAGGAATCTGAGAATTGCTCTCACACACCAACCCAGCAACATCCGTGGAGAAAACTCTCACCAGCAACTCCTTTAAAACACCGTCATTTCAAACCATTGTGGTCTTCAAGCAACAACAGCAGCACAAAAAACCCCAACCAAACAAAACTCTTGACAGAAGCTGTGACAACCAGAAAGGATGCCTCATAAAG
Seq A exon
GGGGAAGACTTTAACTAGGGGCGCGCAGATGTGTGAGGCCTTTTATTGTGAGAGTGGACAGACATCCGAGATTTCAG
Seq C2 exon
AGCCCCATATTCGAGCCCCGTGGAATCCCGCGGCCCCCAGCCAGAGCCAGCATGCAGAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372-'14-47,'14-43,22-47
Average complexity
S
Mappability confidence:
94%=91=80%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (disopred):
C1=1.000 A=NA C2=0.986
Domain overlap (PFAM):
C1:
PF0029213=PAX=PU(0.1=0.0)
A:
NA
C2:
PF0029213=PAX=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGTGGAGAAAACTCTCACCA
R:
ATTCCACGGGGCTCGAATATG
Band lengths:
175-252
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains