HsaEX0056476 @ hg19
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:21695]
Coordinates
chr7:12610312-12617843:+
Coord C1 exon
chr7:12610312-12610611
Coord A exon
chr7:12610831-12611250
Coord C2 exon
chr7:12617689-12617843
Length
420 bp
Sequences
Splice sites
3' ss Seq
GTTGTCCGCAATTGACTTACCTC
3' ss Score
-5.42
5' ss Seq
GAAGTAAGA
5' ss Score
6.42
Exon sequences
Seq C1 exon
AACACTATAAAGTGGCGGCGAATAAGGTTCCTCCTGCTGCTCTCGGTTTAGTCCAAGATCAGCGATATCACGCGTCCCCCGGAGCATCGCGTGCAGGAGCCATGGCGCGGGAGCTATACCACGAAGAGTTCGCCCGGGCGGGCAAGCAGGCGGGGCTGCAGGTCTGGAGGATTGAGAAGCTGGAGCTGGTGCCCGTGCCCCAGAGCGCTCACGGCGACTTCTACGTCGGGGATGCCTACCTGGTGCTGCACACGGCCAAGACGAGCCGAGGCTTCACCTACCACCTGCACTTCTGGCTCG
Seq A exon
CTCGCAGGCTTTGACCTTTGCCAGGTGTAGTTCCTGGACTTTGGAGCTGGTGACTGGCTTCTTCCCCTTTCACCGTCAAGTATCCAAACGCCACTCTTGTCCAGGGCCGCTGCCTCAGCGCACACCGTCTCTGGCCAAGCCCCGCTCACCTTCCGACAAACTCAGTCCTGCTTTCCCTGTCGGGATGGAGAGGAAGTCATAAAGTCTGGGGGCATCTGCCGCCGCTAGGAAGAAGTCCTTTTCTTTTTCTTCACACATTATTTTTATTTGTTGCTTTCGGGCACTGGCTTATTTTCTCTATGATTGCGGGAATTATTGTTCTGGGCTTCTTTAAAACAGGATTCTACCCGCACCATGCTGCTTGTGGGTCTGGTAGACAAAAACTCCGCTTCATTCGGAAGCTGGCGTCCTCAGATAGAA
Seq C2 exon
GAAAGGAGTGTTCCCAGGATGAAAGCACAGCTGCTGCCATCTTCACTGTTCAGATGGATGACTATTTGGGTGGCAAGCCAGTGCAGAATAGAGAACTTCAAGGATATGAGTCTAATGACTTTGTTAGCTATTTCAAAGGCGGTCTGAAATACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747_MULTIEX1-2/3=1-C2
Average complexity
S*
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=0.005
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
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:
TCCTGCTGCTCTCGGTTTAGT
R:
CTGGCTTGCCACCCAAATAGT
Band lengths:
350-770
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)