HsaEX7102852 @ hg38
Exon Skipping
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:HGNC:970]
Coordinates
chr2:169503095-169506655:+
Coord C1 exon
chr2:169503095-169503178
Coord A exon
chr2:169504303-169504326
Coord C2 exon
chr2:169504481-169506655
Length
24 bp
Sequences
Splice sites
3' ss Seq
GAATTTTCTTTGTCTTACAGGCT
3' ss Score
9.49
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
CCCCAGCCGCTCGAAGCTCTGACAGTCGAACAAATTCAAGATGATGTAGAAATAGACTCTGATGGTCACACGGATGCTTTTGTG
Seq A exon
GCTTATTTTGCTGATGGCAATAAG
Seq C2 exon
CAACAAGATCGTGAACCTGTATTTTCAGAAGAACTGGGGCTTGCAATAGAGAAATTGAAGGATGGATTCACCCTACAGGGACTTTGGGAAGTAATGAGTTGATTGACCTTGAGTTGAGATGGATTTCTATTAAAGATATCTCTAGTTTAAAGATACTAGTCACCTGCCATAAGTCATGGAATAGTTTTTATATTTACAGCTTTTATATTTAAAACTTGTAAGAGTTTTTTTAATGATTGAGGAAAAAGTCATTTAGAAAACTTCAGTTTTCGGCCAGCGCGTCGAGGGAGGGGCCAGCGACACATGGCCTAGTAACCGTCCGGCCGCGGCGCTGGCTTAAGCCATGGCTGAGGGTAGCTGGATTCCTCAGGCCCGGGCGCTCCTACAGCAGTGCCTGCACGCCCGGCTGCAAATTCGCCCAGCCAATGGGGACGTTGCGGCCCAGTGGGTGGAGGTCCAAAGAGGACTGGTGATCTACGTGTGCTTTTTCAAGGGAGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093-'22-12,'22-11,23-12=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.036 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(8.1=100)
A:
PF072896=DUF1448=FE(2.1=100)
C2:
PF072896=DUF1448=PD(9.3=91.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGAAGCTCTGACAGTCGAACA
R:
GCAAGCCCCAGTTCTTCTGAA
Band lengths:
117-141
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains