HsaEX1036176 @ 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
chr7:12568215-12568301
Coord C2 exon
chr7:12578064-12578218
Length
87 bp
Sequences
Splice sites
3' ss Seq
TTATTATTTTCCCATTTTAGAGA
3' ss Score
10.53
5' ss Seq
AAGGTAATG
5' ss Score
8.99
Exon sequences
Seq C1 exon
CACCCGGAACTCGCGCTGGCACGCAAGCGCCGCGCGCAGCCCCGGTTCCCGCCAGCGCCTCTCCCTCCACACCTCCCCGCAAGCTGAGGGAGCCGGCTCTGGCCTCGGCCAGCCCAGAAAGTGGCTCCCACAGTGCAGCCGTGGGCTGAAGGGCTCCTCAAGCGTGGCCAGAGTGGGCGCAGAGGCCGAGGAGGCGCCCAGAGCGAAAGAGGGTTGCCAGGGCTGCCAGCACGCTGTCACCTCTCAGTATAACTG
Seq A exon
AGATGAGGAACATGAGGCTGGCTGTGTGTAGTTAAGTAACTTCCTGAAAGTCTCAGAACTAAGGATGAAAGCAGGAATTGAATCAAG
Seq C2 exon
GAAAGGAGTGTTCCCAGGATGAAAGCACAGCTGCTGCCATCTTCACTGTTCAGATGGATGACTATTTGGGTGGCAAGCCAGTGCAGAATAGAGAACTTCAAGGATATGAGTCTAATGACTTTGTTAGCTATTTCAAAGGCGGTCTGAAATACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747_MULTIEX2-1/4=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.003
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF0062617=Gelsolin=PD(49.4=78.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
CTCAAGCGTGGCCAGAGTG
R:
CTGGCTTGCCACCCAAATAGT
Band lengths:
180-267
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains