HsaEX6068736 @ hg38
Exon Skipping
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103638016-103648823:+
Coord C1 exon
chr12:103638016-103638212
Coord A exon
chr12:103640123-103640256
Coord C2 exon
chr12:103648690-103648823
Length
134 bp
Sequences
Splice sites
3' ss Seq
TCTCTTCCTGTCTACTGAAGTCT
3' ss Score
5.43
5' ss Seq
TGAGTAAGT
5' ss Score
8.82
Exon sequences
Seq C1 exon
CCATCAATCCATGTTTACGAAAAATCTGCCACCCTCATGCTCATTGTACGTACCTGGGACCAAATCGGCACAGTTGTACATGCCAAGAAGGCTACCGTGGGGATGGCCAAGTGTGCTTGCCTGTGGACCCCTGCCAAATTAACTTTGGAAACTGCCCTACAAAGTCTACAGTGTGCAAATATGATGGGCCTGGACAG
Seq A exon
TCTCACTGCGAGTGTAAGGAGCATTACCAGAATTTCGTACCTGGAGTGGGGTGCAGTATGACTGATATATGTAAATCAGATAACCCGTGTCATAGGAATGCAAATTGCACCACCGTCGCACCAGGCCGAACTGA
Seq C2 exon
ATGCATTTGCCAGAAAGGTTACGTGGGTGATGGCTTAACGTGTTATGGAAACATTATGGAGCGACTCAGAGAATTAAATACTGAACCCAGAGGAAAATGGCAAGGAAGGCTGACCTCTTTCATCTCACTCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011-'10-14,'10-13,11-14=AN
Average complexity
A_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=0.022
Domain overlap (PFAM):
C1:
PF129472=EGF_3=WD(100=50.0)
A:
PF129472=EGF_3=PU(58.3=46.7)
C2:
PF129472=EGF_3=PD(38.9=30.4),PF0246917=Fasciclin=PU(7.9=21.7)

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:
ATCGGCACAGTTGTACATGCC
R:
GGTCAGCCTTCCTTGCCATTT
Band lengths:
249-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains