HsaEX0062123 @ hg38
Exon Skipping
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103755302-103758289:+
Coord C1 exon
chr12:103755302-103755467
Coord A exon
chr12:103755612-103755718
Coord C2 exon
chr12:103758170-103758289
Length
107 bp
Sequences
Splice sites
3' ss Seq
TGTGTGCCTCTGCCCTCCAGATG
3' ss Score
10.57
5' ss Seq
ACGGTATGT
5' ss Score
9.94
Exon sequences
Seq C1 exon
GCCAAGTACCACCTGTGCTCAGCAGGCTGGCTGGAGACCGGGCGGGTTGCCTACCCCACAGCCTTCGCCTCCCAGAACTGTGGCTCTGGTGTGGTTGGGATAGTGGACTATGGACCTAGACCCAACAAGAGTGAAATGTGGGATGTCTTCTGCTATCGGATGAAAG
Seq A exon
ATGTGAACTGCACCTGCAAGGTGGGCTATGTGGGAGATGGCTTCTCATGCAGTGGGAACCTGCTGCAGGTCCTGATGTCCTTCCCCTCACTCACAAACTTCCTGACG
Seq C2 exon
GAAGTGCTGGCCTATTCCAACAGCTCAGCTCGAGGCCGTGCATTTCTAGAACACCTGACTGACCTGTCCATCCGCGGCACCCTCTTTGTGCCACAGAACAGTGGGCTGGGGGAGAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011_CASSETTE6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.025
Domain overlap (PFAM):
C1:
PF0019312=Xlink=PD(54.3=91.1)
A:
NO
C2:
PF0246917=Fasciclin=PU(31.4=92.5)
Main Skipping Isoform:
NA
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:
CAAGTACCACCTGTGCTCAGC
R:
AAAGAGGGTGCCGCGGAT
Band lengths:
251-358
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