HsaEX1039181 @ hg38
Exon Skipping
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103753220-103755467:+
Coord C1 exon
chr12:103753220-103753353
Coord A exon
chr12:103754139-103754295
Coord C2 exon
chr12:103755302-103755467
Length
157 bp
Sequences
Splice sites
3' ss Seq
ACAAATCTCTACTTTTTCAGACC
3' ss Score
7.6
5' ss Seq
AATGTAATA
5' ss Score
-1.48
Exon sequences
Seq C1 exon
ATACCACTGTTGGGGTGTTCCATCTACGCTCCCCACTGGGCCAGTATAAGCTGACCTTTGACAAAGCCAGAGAGGCCTGTGCCAACGAAGCTGCGACCATGGCAACCTACAACCAGCTCTCCTATGCCCAGAAG
Seq A exon
ACCTGGTATTCCTTTACCAAGGAATAAAGCCTTTGATGCCAGGACCCAGACTCAAGGAGAATCTGAATCTCTGCTCTCCTGCTTGCTGGTCATGTGGCCTTGATATCAAGCCACTAAAATCTCTGACTTACCTGGAATGTTTGTGGAAGGACTAAAT
Seq C2 exon
GCCAAGTACCACCTGTGCTCAGCAGGCTGGCTGGAGACCGGGCGGGTTGCCTACCCCACAGCCTTCGCCTCCCAGAACTGTGGCTCTGGTGTGGTTGGGATAGTGGACTATGGACCTAGACCCAACAAGAGTGAAATGTGGGATGTCTTCTGCTATCGGATGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011_MULTIEX1-9/10=8-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0019312=Xlink=PU(43.6=91.1)
A:
NO
C2:
PF0019312=Xlink=PD(54.3=91.1)
Main Inclusion Isoform:
ENST00000388887fB27042
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGCCAGTATAAGCTGACCT
R:
TCCGATAGCAGAAGACATCCCA
Band lengths:
258-415
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains