HsaEX6068687 @ hg38
Exon Skipping
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103737634-103755467:+
Coord C1 exon
chr12:103737634-103737780
Coord A exon
chr12:103753220-103753353
Coord C2 exon
chr12:103755302-103755467
Length
134 bp
Sequences
Splice sites
3' ss Seq
TCCTCCTCTTCCTCATCCAGATA
3' ss Score
10.15
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
GGTGACCTCTTTCTGAATGGCCAAACCTGCAGAATTGTGCAGCGGGAGCTCTTGTTTGACCTGGGTGTGGCCTACGGCATTGACTGTCTGCTGATTGATCCCACCCTGGGGGGCCGCTGTGACACCTTTACTACTTTCGATGCCTCG
Seq A exon
ATACCACTGTTGGGGTGTTCCATCTACGCTCCCCACTGGGCCAGTATAAGCTGACCTTTGACAAAGCCAGAGAGGCCTGTGCCAACGAAGCTGCGACCATGGCAACCTACAACCAGCTCTCCTATGCCCAGAAG
Seq C2 exon
GCCAAGTACCACCTGTGCTCAGCAGGCTGGCTGGAGACCGGGCGGGTTGCCTACCCCACAGCCTTCGCCTCCCAGAACTGTGGCTCTGGTGTGGTTGGGATAGTGGACTATGGACCTAGACCCAACAAGAGTGAAATGTGGGATGTCTTCTGCTATCGGATGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011_MULTIEX1-8/10=C1-C2
Average complexity
C3
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=0.000
Domain overlap (PFAM):
C1:
PF0246917=Fasciclin=PD(24.1=65.3)
A:
PF0019312=Xlink=PU(43.6=91.1)
C2:
PF0019312=Xlink=PD(54.3=91.1)
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:
CTGAATGGCCAAACCTGCAGA
R:
TCCACTATCCCAACCACACCA
Band lengths:
242-376
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains