HsaEX0062120 @ hg38
Exon Skipping
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103670696-103676021:+
Coord C1 exon
chr12:103670696-103670807
Coord A exon
chr12:103673907-103674087
Coord C2 exon
chr12:103675928-103676021
Length
181 bp
Sequences
Splice sites
3' ss Seq
CCCTCCTCCTCCTCTTTCAGAAT
3' ss Score
12.83
5' ss Seq
CAGGTAGGT
5' ss Score
10.28
Exon sequences
Seq C1 exon
TGTGCAGATAGCCTCGGCGGCAACGGGACATGCATTTGTGAGGAGGGCTTCCAAGGCTCCCAGTGTCAGTTCTGCTCTGATCCCAATAAATACGGACCTCGGTGTAACAAAA
Seq A exon
AATGCCTGTGCGTTCACGGAACATGCAATAACAGGATAGACAGCGATGGGGCCTGCCTCACTGGCACATGCAGAGACGGCTCTGCCGGGAGACTCTGTGATAAGCAGACCTCAGCCTGTGGGCCCTACGTGCAGTTCTGTCACATCCACGCCACCTGTGAATACAGCAATGGGACAGCCAG
Seq C2 exon
TTGTATTTGCAAAGCAGGATATGAAGGAGATGGAACTCTGTGTTCTGAGATGGACCCTTGCACAGGACTAACTCCAGGAGGCTGTAGCCGCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011_CASSETTE1
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=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(64.5=52.6)
A:
PF129472=EGF_3=PU(58.3=34.4)
C2:
PF129472=EGF_3=PD(38.9=43.8),PF129472=EGF_3=PU(22.9=25.0)
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:
GTGCAGATAGCCTCGGCG
R:
CTACAGCCTCCTGGAGTTAGTCC
Band lengths:
198-379
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development