HsaEX0056476 @ 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
chr7:12571545-12571625
Coord C2 exon
chr7:12578064-12578218
Length
81 bp
Sequences
Splice sites
3' ss Seq
TCTGGGCTTCTTTAAAACAGGAT
3' ss Score
7.39
5' ss Seq
GAAGTAAGA
5' ss Score
6.42
Exon sequences
Seq C1 exon
AACACTATAAAGTGGCGGCGAATAAGGTTCCTCCTGCTGCTCTCGGTTTAGTCCAAGATCAGCGATATCACGCGTCCCCCGGAGCATCGCGTGCAGGAGCCATGGCGCGGGAGCTATACCACGAAGAGTTCGCCCGGGCGGGCAAGCAGGCGGGGCTGCAGGTCTGGAGGATTGAGAAGCTGGAGCTGGTGCCCGTGCCCCAGAGCGCTCACGGCGACTTCTACGTCGGGGATGCCTACCTGGTGCTGCACACGGCCAAGACGAGCCGAGGCTTCACCTACCACCTGCACTTCTGGCTCG
Seq A exon
GATTCTACCCGCACCATGCTGCTTGTGGGTCTGGTAGACAAAAACTCCGCTTCATTCGGAAGCTGGCGTCCTCAGATAGAA
Seq C2 exon
GAAAGGAGTGTTCCCAGGATGAAAGCACAGCTGCTGCCATCTTCACTGTTCAGATGGATGACTATTTGGGTGGCAAGCCAGTGCAGAATAGAGAACTTCAAGGATATGAGTCTAATGACTTTGTTAGCTATTTCAAAGGCGGTCTGAAATACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747_MULTIEX2-3/4=2-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.003
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(49.4=61.2)
A:
PF0062617=Gelsolin=PD(2.3=3.6),PF0062617=Gelsolin=PU(2.3=3.6)
C2:
PF0062617=Gelsolin=PD(49.4=78.8)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
CTTCTACGTCGGGGATGCCTA
R:
CTATTCTGCACTGGCTTGCCA
Band lengths:
174-255
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development