HsaEX0007768 @ hg19
Exon Skipping
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:970]
Coordinates
chr2:170344497-170356130:+
Coord C1 exon
chr2:170344497-170344624
Coord A exon
chr2:170349384-170349519
Coord C2 exon
chr2:170355996-170356130
Length
136 bp
Sequences
Splice sites
3' ss Seq
TTGTTTGTTCTTTTTCATAGAGC
3' ss Score
9.52
5' ss Seq
CAGGTATTG
5' ss Score
8.35
Exon sequences
Seq C1 exon
AAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAATGTAACAGTACTCGTTTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTTTTTACTTCTGTGATGGCAGTACACAG
Seq A exon
AGCTTATGAAACTTCTAAAATGTATCGTGATTTTAAATTAAGAAGTGCACTAATTCAGAACAAGCAACTAAGACTGTTGCCACAAGAACATGTATATGATAAAATAAATGGAGTTTGGAATTTATCCAGTGATCAG
Seq C2 exon
AGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAATCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093_MULTIEX1-4/6=3-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(12.5=100)
A:
PF072896=DUF1448=FE(13.4=100)
C2:
PF072896=DUF1448=FE(13.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGAGGCCAAACTGAAGCTCTC
R:
TCTTCCATCTCATAATCAACTCCA
Band lengths:
253-389
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
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)