HsaEX0007765 @ hg19
Exon Skipping
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:970]
Coordinates
chr2:170338761-170344365:+
Coord C1 exon
chr2:170338761-170338843
Coord A exon
chr2:170343579-170343644
Coord C2 exon
chr2:170344316-170344365
Length
66 bp
Sequences
Splice sites
3' ss Seq
TTTTGTCTGTGTGCTTTTAGGTA
3' ss Score
12.23
5' ss Seq
TTTGTAAGT
5' ss Score
7.4
Exon sequences
Seq C1 exon
GCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACCAAAGGAAATAATGGAGATAGAG
Seq A exon
GTAGACTCTTGGTAACAAATTTAAGAATTCTCTGGCACTCTTTGGCATTATCAAGAGTCAATGTTT
Seq C2 exon
CTGTCGGTTACAATTGCATATTGAATATTACAACAAGGACTGCTAACTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093_MULTIEX1-1/6=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.138 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(13.8=100)
A:
PF072896=DUF1448=FE(10.8=100)
C2:
PF072896=DUF1448=FE(4.8=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAAACAAGACCTGGAGAAGTCC
R:
AGAGTTAGCAGTCCTTGTTGTAA
Band lengths:
128-194
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)