HsaEX0056475 @ hg38
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:HGNC:21695]
Coordinates
chr7:12556476-12578218:+
Coord C1 exon
chr7:12556476-12556730
Coord A exon
chr7:12570465-12570985
Coord C2 exon
chr7:12578064-12578218
Length
521 bp
Sequences
Splice sites
3' ss Seq
TGTTCTTCGTCTATTGCTAGAGA
3' ss Score
5.55
5' ss Seq
TCGGTAAGG
5' ss Score
10.48
Exon sequences
Seq C1 exon
CACCCGGAACTCGCGCTGGCACGCAAGCGCCGCGCGCAGCCCCGGTTCCCGCCAGCGCCTCTCCCTCCACACCTCCCCGCAAGCTGAGGGAGCCGGCTCTGGCCTCGGCCAGCCCAGAAAGTGGCTCCCACAGTGCAGCCGTGGGCTGAAGGGCTCCTCAAGCGTGGCCAGAGTGGGCGCAGAGGCCGAGGAGGCGCCCAGAGCGAAAGAGGGTTGCCAGGGCTGCCAGCACGCTGTCACCTCTCAGTATAACTG
Seq A exon
AGAAAATGTCTTTCCTTGGAGGAGGCATTGGCACGAGTTACTATAAACTCCCTCTGAATCTCAAGACTTCTGGGACGCCGATTCCGCTCCTGGCCTGGGGCAAGGCGTGGGAGCTTGGAAGCCAGCGCTGCGCTCCCCGTGGGAAGCGATCGTCTCCTCTGTCAACTCGCGCCTGGGCACTTAGCCCCTCCCGTTTCAGGGCGCCGCCTCCCCGGATGGCAAACACTATAAAGTGGCGGCGAATAAGGTTCCTCCTGCTGCTCTCGGTTTAGTCCAAGATCAGCGATATCACGCGTCCCCCGGAGCATCGCGTGCAGGAGCCATGGCGCGGGAGCTATACCACGAAGAGTTCGCCCGGGCGGGCAAGCAGGCGGGGCTGCAGGTCTGGAGGATTGAGAAGCTGGAGCTGGTGCCCGTGCCCCAGAGCGCTCACGGCGACTTCTACGTCGGGGATGCCTACCTGGTGCTGCACACGGCCAAGACGAGCCGAGGCTTCACCTACCACCTGCACTTCTGGCTCG
Seq C2 exon
GAAAGGAGTGTTCCCAGGATGAAAGCACAGCTGCTGCCATCTTCACTGTTCAGATGGATGACTATTTGGGTGGCAAGCCAGTGCAGAATAGAGAACTTCAAGGATATGAGTCTAATGACTTTGTTAGCTATTTCAAAGGCGGTCTGAAATACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747_MULTIEX2-2/4=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.003
Domain overlap (PFAM):
C1:
NA
A:
PF0062617=Gelsolin=PU(49.4=61.2)
C2:
PF0062617=Gelsolin=PD(49.4=78.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTCCCTCCACACCTCCC
R:
TCAGACCGCCTTTGAAATAGCT
Band lengths:
344-865
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development