HsaEX0007768 @ hg38
Exon Skipping
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:HGNC:970]
Coordinates
chr2:169482251-169499620:+
Coord C1 exon
chr2:169482251-169482333
Coord A exon
chr2:169492874-169493009
Coord C2 exon
chr2:169499486-169499620
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
GCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACCAAAGGAAATAATGGAGATAGAG
Seq A exon
AGCTTATGAAACTTCTAAAATGTATCGTGATTTTAAATTAAGAAGTGCACTAATTCAGAACAAGCAACTAAGACTGTTGCCACAAGAACATGTATATGATAAAATAAATGGAGTTTGGAATTTATCCAGTGATCAG
Seq C2 exon
AGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAATCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093_MULTIEX1-4/7=C1-7
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.184 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(13.8=100)
A:
PF072896=DUF1448=FE(13.4=100)
C2:
PF072896=DUF1448=FE(13.1=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:
TTCTTCCATCTCATAATCAACTCCA
Band lengths:
210-346
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