HsaEX0007766 @ hg38
Exon Skipping
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:HGNC:970]
Coordinates
chr2:169482251-169488114:+
Coord C1 exon
chr2:169482251-169482333
Coord A exon
chr2:169487806-169487855
Coord C2 exon
chr2:169487987-169488114
Length
50 bp
Sequences
Splice sites
3' ss Seq
TCTTTGCTTTTGGATTTTAGCTG
3' ss Score
7.32
5' ss Seq
TCTGTAAGT
5' ss Score
7.96
Exon sequences
Seq C1 exon
GCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACCAAAGGAAATAATGGAGATAGAG
Seq A exon
CTGTCGGTTACAATTGCATATTGAATATTACAACAAGGACTGCTAACTCT
Seq C2 exon
AAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAATGTAACAGTACTCGTTTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTTTTTACTTCTGTGATGGCAGTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093_MULTIEX1-2/7=C1-3
Average complexity
C2
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=0.065
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(13.8=100)
A:
PF072896=DUF1448=FE(4.8=100)
C2:
PF072896=DUF1448=FE(12.5=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCATTGAAGACACCAAAGGA
R:
AGTCTAGGGCTTCCAGGAACC
Band lengths:
138-188
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