HsaEX0045711 @ hg19
Exon Skipping
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:8620]
Coordinates
chr11:31806340-31815101:-
Coord C1 exon
chr11:31814986-31815101
Coord A exon
chr11:31812258-31812408
Coord C2 exon
chr11:31806340-31811567
Length
151 bp
Sequences
Splice sites
3' ss Seq
GTTTGCCTCTCTCCTCACAGCCC
3' ss Score
11.45
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
TTTCCTCCTTCACATCTGGCTCCATGTTGGGCCGAACAGACACAGCCCTCACAAACACCTACAGCGCTCTGCCGCCTATGCCCAGCTTCACCATGGCAAATAACCTGCCTATGCAA
Seq A exon
CCCCCAGTCCCCAGCCAGACCTCCTCATACTCCTGCATGCTGCCCACCAGCCCTTCGGTGAATGGGCGGAGTTATGATACCTACACCCCCCCACATATGCAGACACACATGAACAGTCAGCCAATGGGCACCTCGGGCACCACTTCAACAG
Seq C2 exon
GACTCATTTCCCCTGGTGTGTCAGTTCCAGTTCAAGTTCCCGGAAGTGAACCTGATATGTCTCAATACTGGCCAAGATTACAGTAAAAAAAAAAAAAAAAAAAAAAAGGAAAGGAAATATTGTGTTAATTCAGTCAGTGACTATGGGGACACAACAGTTGAGCTTTCAGGAAAGAAAGAAAAATGGCTGTTAGAGCCGCTTCAGTTCTACAATTGTGTCCTGTATTGTACCACTGGGGAAGGAATGGACTTGAAACAAGGACCTTTGTATACAGAAGGCACGATATCAGTTGGAACAAATCTTCATTTTGGTATCCAAACTTTTATTCATTTTGGTGTATTATTTGTAAATGGGCATTTGTATGTTATAATGAAAAAAAGAACAATGTAGACTGGATGGATGTTTGATCTGTGTTGGTCATGAAGTTGTTTTTTTTTTTTTTAAAAAGAAAACCATGATCAACAAGCTTTGCCACGAATTTAAGAGTTTTATCAAGATAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (disopred):
C1=1.000 A=1.000 C2=0.716
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
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:
AGACACAGCCCTCACAAACAC
R:
GCTCAACTGTTGTGTCCCCAT
Band lengths:
242-393
Functional annotations
There are 1 annotated functions for this event
PMID: 10329718
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI001441; ELM sequence: GLISPGV; Overlap: PARTIAL_RIGHT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
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)