HsaEX1005506 @ hg38
Exon Skipping
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:HGNC:970]
Coordinates
chr2:169482251-169503178:+
Coord C1 exon
chr2:169482251-169482333
Coord A exon
chr2:169499486-169499620
Coord C2 exon
chr2:169503095-169503178
Length
135 bp
Sequences
Splice sites
3' ss Seq
TATTATTTTTTCTCTTGTAGAGT
3' ss Score
10.67
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
GCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACCAAAGGAAATAATGGAGATAGAG
Seq A exon
AGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAATCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAG
Seq C2 exon
CCCCAGCCGCTCGAAGCTCTGACAGTCGAACAAATTCAAGATGATGTAGAAATAGACTCTGATGGTCACACGGATGCTTTTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093_MULTIEX1-7/7=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.184 A=0.000 C2=0.036
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(13.8=100)
A:
PF072896=DUF1448=FE(13.1=100)
C2:
PF072896=DUF1448=FE(8.1=100)
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAAACAAGACCTGGAGAAGTCC
R:
CACAAAAGCATCCGTGTGACC
Band lengths:
162-297
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains