HsaEX0029246 @ hg19
Exon Skipping
Gene
ENSG00000140511 | HAPLN3
Description
hyaluronan and proteoglycan link protein 3 [Source:HGNC Symbol;Acc:21446]
Coordinates
chr15:89422198-89424956:-
Coord C1 exon
chr15:89424588-89424956
Coord A exon
chr15:89422649-89422699
Coord C2 exon
chr15:89422198-89422500
Length
51 bp
Sequences
Splice sites
3' ss Seq
ACTCATGGATGTTTTCTGAGTAC
3' ss Score
-9.58
5' ss Seq
GAGGTCAGA
5' ss Score
5.24
Exon sequences
Seq C1 exon
ACCTCCTTAATGGAGTGAAGCTGGTGGTGGAGACACCCGAGGAGACCCTGTTCACCTACCAAGGGGCCAGTGTGATCCTGCCCTGCCGCTACCGCTACGAGCCGGCCCTGGTCTCCCCGCGGCGTGTGCGTGTCAAATGGTGGAAGCTGTCGGAGAACGGGGCCCCAGAGAAGGACGTGCTGGTGGCCATCGGGCTGAGGCACCGCTCCTTTGGGGACTACCAAGGCCGCGTGCACCTGCGGCAGGACAAAGAGCATGACGTCTCGCTGGAGATCCAGGATCTGCGGCTGGAGGACTATGGGCGTTACCGCTGTGAGGTCATTGACGGGCTGGAGGATGAAAGCGGTCTGGTGGAGCTGGAGCTGCGGG
Seq A exon
TACTGCTGTGAACCAGCTGAGTCCCAGGAGAGAGGCGGCAACGGACAGGAG
Seq C2 exon
GTGTGGTCTTTCCTTACCAGTCCCCCAACGGGCGCTACCAGTTCAACTTCCACGAGGGCCAGCAGGTCTGTGCAGAGCAGGCTGCGGTGGTGGCCTCCTTTGAGCAGCTCTTCCGGGCCTGGGAGGAGGGCCTGGACTGGTGCAACGCGGGCTGGCTGCAGGATGCCACGGTGCAGTACCCCATCATGTTGCCCCGGCAGCCCTGCGGTGGCCCGGGCCTGGCACCTGGCGTGCGAAGCTACGGCCCCCGCCACCGCCGCCTGCACCGCTATGATGTATTCTGCTTCGCTACTGCCCTCAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140511_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0768612=V-set=WD(100=92.7),PF0019312=Xlink=PU(0.1=0.0)
A:
NO
C2:
PF0019312=Xlink=WD(100=94.1),PF0019312=Xlink=PU(0.1=0.0)
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGAAAGCGGTCTGGTGGAG
R:
GAAGAGCTGCTCAAAGGAGGC
Band lengths:
147-198
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)