HsaEX6007217 @ hg19
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:21695]
Coordinates
chr7:12611170-12617843:+
Coord C1 exon
chr7:12611170-12611250
Coord A exon
chr7:12617167-12617384
Coord C2 exon
chr7:12617689-12617843
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
GATTCTACCCGCACCATGCTGCTTGTGGGTCTGGTAGACAAAAACTCCGCTTCATTCGGAAGCTGGCGTCCTCAGATAGAA
Seq A exon
GAATTGGAAAAAGCAGAAACAAAAACAGGCCGGGCATGGTGGCTCATACCTGTAATCCCCAACAATTTAGGAGGCCAAAGCCAGAGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATATGGAGACCTTTTCCCTACAAAACACTTTTTTGAGAATTAGCAAAGCATGGTGGCACGCACCTGTAGTCCAAGCTGCTTGTGAGACTGAG
Seq C2 exon
GAAAGGAGTGTTCCCAGGATGAAAGCACAGCTGCTGCCATCTTCACTGTTCAGATGGATGACTATTTGGGTGGCAAGCCAGTGCAGAATAGAGAACTTCAAGGATATGAGTCTAATGACTTTGTTAGCTATTTCAAAGGCGGTCTGAAATACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747-'1-2,'1-1,2-2=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.722 C2=0.005
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(2.3=3.6),PF0062617=Gelsolin=PU(2.3=3.6)
A:
PF0062617=Gelsolin=PD(40.0=75.7)
C2:
PF0062617=Gelsolin=PD(49.4=78.8)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
GATTCTACCCGCACCATGCTG
R:
CTTGTATTTCAGACCGCCTTTGA
Band lengths:
236-454
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)