HsaEX0007770 @ hg38
Exon Skipping
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:HGNC:970]
Coordinates
chr2:169493741-169499620:+
Coord C1 exon
chr2:169493741-169493836
Coord A exon
chr2:169497627-169497689
Coord C2 exon
chr2:169499486-169499620
Length
63 bp
Sequences
Splice sites
3' ss Seq
CTTTTTCATTTTGTATCTAGCGT
3' ss Score
7.39
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GGCAATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGGCATGCAAATATGAATGATAGTTTTAATGTCAGTATACCATATCTGCAAATT
Seq A exon
CGTTCAATAAAGATTAGAGATTCAAAATTTGGTTTAGCTCTTGTCATAGAAAGCTCTCAGCAG
Seq C2 exon
AGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAATCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093_MULTIEX1-6/7=5-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(15.3=100)
A:
PF072896=DUF1448=FE(6.0=100)
C2:
PF072896=DUF1448=FE(13.1=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACCAATGTGAGAATTGTGTGGCA
R:
ACTGATTCTTGTAGTTTTTCCACAGG
Band lengths:
132-195
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development