HsaEX6068735 @ hg38
Exon Skipping
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103640123-103650578:+
Coord C1 exon
chr12:103640123-103640256
Coord A exon
chr12:103648690-103648823
Coord C2 exon
chr12:103650496-103650578
Length
134 bp
Sequences
Splice sites
3' ss Seq
TCTTTTCCCCCTCTCTGTAGATG
3' ss Score
12.15
5' ss Seq
TAGGTACGC
5' ss Score
7.84
Exon sequences
Seq C1 exon
TCTCACTGCGAGTGTAAGGAGCATTACCAGAATTTCGTACCTGGAGTGGGGTGCAGTATGACTGATATATGTAAATCAGATAACCCGTGTCATAGGAATGCAAATTGCACCACCGTCGCACCAGGCCGAACTGA
Seq A exon
ATGCATTTGCCAGAAAGGTTACGTGGGTGATGGCTTAACGTGTTATGGAAACATTATGGAGCGACTCAGAGAATTAAATACTGAACCCAGAGGAAAATGGCAAGGAAGGCTGACCTCTTTCATCTCACTCCTAG
Seq C2 exon
ACAAAGCTTATGCCTGGCCACTGAGTAAGCTGGGACCCTTCACGGTGCTGTTACCTACAGACAAGGGACTGAAAGGATTCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011-'11-15,'11-14,12-15
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=0.022 C2=0.000
Domain overlap (PFAM):
C1:
PF129472=EGF_3=PU(58.3=46.7)
A:
PF129472=EGF_3=PD(38.9=30.4),PF0246917=Fasciclin=PU(7.9=21.7)
C2:
PF0246917=Fasciclin=FE(21.4=100)
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:
CACTGCGAGTGTAAGGAGCAT
R:
AATCCTTTCAGTCCCTTGTCTGT
Band lengths:
210-344
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains