HsaEX6068734 @ hg38
Exon Skipping
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103648690-103652705:+
Coord C1 exon
chr12:103648690-103648823
Coord A exon
chr12:103650496-103650578
Coord C2 exon
chr12:103652556-103652705
Length
83 bp
Sequences
Splice sites
3' ss Seq
GTGTTATTTCGACTCCTAAGACA
3' ss Score
2.95
5' ss Seq
AATGTGAGT
5' ss Score
7.8
Exon sequences
Seq C1 exon
ATGCATTTGCCAGAAAGGTTACGTGGGTGATGGCTTAACGTGTTATGGAAACATTATGGAGCGACTCAGAGAATTAAATACTGAACCCAGAGGAAAATGGCAAGGAAGGCTGACCTCTTTCATCTCACTCCTAG
Seq A exon
ACAAAGCTTATGCCTGGCCACTGAGTAAGCTGGGACCCTTCACGGTGCTGTTACCTACAGACAAGGGACTGAAAGGATTCAAT
Seq C2 exon
GTAAATGAGCTTTTGGTGGATAATAAAGCTGCTCAATACTTTGTGAAACTCCACATAATTGCTGGTCAGATGAACATCGAATATATGAATAACACAGACATGTTCTACACCTTGACTGGAAAGTCGGGGGAAATCTTCAACAGCGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011-'12-16,'12-15,13-16=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=0.022 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF129472=EGF_3=PD(38.9=30.4),PF0246917=Fasciclin=PU(7.9=21.7)
A:
PF0246917=Fasciclin=FE(21.4=100)
C2:
PF0246917=Fasciclin=FE(38.9=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATGGCAAGGAAGGCTGACC
R:
ATTTCCCCCGACTTTCCAGTC
Band lengths:
174-257
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains