HsaEX0056473 @ hg19
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:21695]
Coordinates
chr7:12620685-12644288:+
Coord C1 exon
chr7:12620685-12620846
Coord A exon
chr7:12635895-12636051
Coord C2 exon
chr7:12644139-12644288
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
GCTGGAGGCGTGGCATCTGGATTAAATCATGTTCTTACGAACGACCTGACAGCCAAGAGGCTCCTACATGTGAAGGGTCGTAGAGTGGTGAGAGCCACAGAAGTTCCCCTTAGCTGGGACAGTTTCAACAAGGGTGACTGCTTCATCATTGACCTTGGCACC
Seq A exon
TGGCGTGTCCCCAGAAGGTCATACTCCACCATGTTGTCTCATCTTGCACATCCCCAAGAAGTTGCTTCTCCCTGACGTCTGCGTTTAATTAAGTGCAATAGGTGTGGACCATCAGGAAATGGCCTCCCTGATGTCTGCATTCACTTTAGTGCAACAG
Seq C2 exon
GAAATTTATCAGTGGTGTGGTTCCTCGTGCAACAAATATGAACGTCTGAAGGCAAACCAGGTAGCTACTGGCATTCGGTACAATGAAAGGAAAGGAAGGTCTGAACTAATTGTCGTGGAAGAAGGAAGTGAACCCTCAGAACTTATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.040 C2=0.070
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(34.2=48.1)
A:
PF0062617=Gelsolin=PU(13.8=61.5)
C2:
PF0062617=Gelsolin=PD(63.2=96.0)
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:
GAACGACCTGACAGCCAAGAG
R:
GGTTCACTTCCTTCTTCCACGA
Band lengths:
258-415
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)