HsaEX6007217 @ hg38
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:HGNC:21695]
Coordinates
chr7:12570686-12578218:+
Coord C1 exon
chr7:12570686-12570985
Coord A exon
chr7:12577542-12577759
Coord C2 exon
chr7:12578064-12578218
Length
218 bp
Sequences
Splice sites
3' ss Seq
TCTTTTTAAAATTTTTAAAGGAA
3' ss Score
6.94
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
AACACTATAAAGTGGCGGCGAATAAGGTTCCTCCTGCTGCTCTCGGTTTAGTCCAAGATCAGCGATATCACGCGTCCCCCGGAGCATCGCGTGCAGGAGCCATGGCGCGGGAGCTATACCACGAAGAGTTCGCCCGGGCGGGCAAGCAGGCGGGGCTGCAGGTCTGGAGGATTGAGAAGCTGGAGCTGGTGCCCGTGCCCCAGAGCGCTCACGGCGACTTCTACGTCGGGGATGCCTACCTGGTGCTGCACACGGCCAAGACGAGCCGAGGCTTCACCTACCACCTGCACTTCTGGCTCG
Seq A exon
GAATTGGAAAAAGCAGAAACAAAAACAGGCCGGGCATGGTGGCTCATACCTGTAATCCCCAACAATTTAGGAGGCCAAAGCCAGAGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATATGGAGACCTTTTCCCTACAAAACACTTTTTTGAGAATTAGCAAAGCATGGTGGCACGCACCTGTAGTCCAAGCTGCTTGTGAGACTGAG
Seq C2 exon
GAAAGGAGTGTTCCCAGGATGAAAGCACAGCTGCTGCCATCTTCACTGTTCAGATGGATGACTATTTGGGTGGCAAGCCAGTGCAGAATAGAGAACTTCAAGGATATGAGTCTAATGACTTTGTTAGCTATTTCAAAGGCGGTCTGAAATACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747_MULTIEX2-4/4=2-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.639 C2=0.003
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(49.4=61.2)
A:
PF0062617=Gelsolin=PD(40.0=75.7)
C2:
PF0062617=Gelsolin=PD(49.4=78.8)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTGCTGCTCTCGGTTTAGT
R:
GCTGTGCTTTCATCCTGGGAA
Band lengths:
300-518
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains