HsaEX0056473 @ hg38
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:HGNC:21695]
Coordinates
chr7:12595985-12604663:+
Coord C1 exon
chr7:12595985-12596085
Coord A exon
chr7:12596270-12596426
Coord C2 exon
chr7:12604514-12604663
Length
157 bp
Sequences
Splice sites
3' ss Seq
GTCTTTCTTCCTTTTTCCAGTGG
3' ss Score
10.11
5' ss Seq
CAGGTGTGA
5' ss Score
5.29
Exon sequences
Seq C1 exon
AGACCAAGACAAGTTTCAGAGCAGGAGTGGAAGTTTATTTTTAAAGAGCTTAGAACAGGAAGGAAAAGAAAGGAACGTATGCTTGGAAGAGACCCAAGCAG
Seq A exon
TGGCGTGTCCCCAGAAGGTCATACTCCACCATGTTGTCTCATCTTGCACATCCCCAAGAAGTTGCTTCTCCCTGACGTCTGCGTTTAATTAAGTGCAATAGGTGTGGACCATCAGGAAATGGCCTCCCTGATGTCTGCATTCACTTTAGTGCAACAG
Seq C2 exon
GAAATTTATCAGTGGTGTGGTTCCTCGTGCAACAAATATGAACGTCTGAAGGCAAACCAGGTAGCTACTGGCATTCGGTACAATGAAAGGAAAGGAAGGTCTGAACTAATTGTCGTGGAAGAAGGAAGTGAACCCTCAGAACTTATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747-'13-11,'13-10,14-11
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.052
Domain overlap (PFAM):
C1:
NA
A:
PF0062617=Gelsolin=PU(13.8=61.5)
C2:
PF0062617=Gelsolin=PD(63.2=96.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
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:
ACCAAGACAAGTTTCAGAGCAGG
R:
AGTTCTGAGGGTTCACTTCCT
Band lengths:
242-399
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