HsaEX0056474 @ hg38
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:HGNC:21695]
Coordinates
chr7:12640347-12644705:+
Coord C1 exon
chr7:12640347-12640517
Coord A exon
chr7:12644138-12644315
Coord C2 exon
chr7:12644584-12644705
Length
178 bp
Sequences
Splice sites
3' ss Seq
TATTTTTCTTCATATTCCAGGTT
3' ss Score
9.51
5' ss Seq
CAGGTGTGT
5' ss Score
6.99
Exon sequences
Seq C1 exon
ATCCGAGTCTCCCAAGGCAAAGAGCCTGTTCACCTACTGAGTTTGTTCAAAGACAAACCGCTCATTATTTACAAGAATGGAACATCAAAGAAAGGAGGTCAGGCACCTGCTCCCCCTACACGCCTCTTTCAAGTCCGGAGAAACCTGGCATCTATCACCAGAATTGTGGAG
Seq A exon
GTTGATGTTGATGCAAATTCACTGAATTCTAACGATGTTTTTGTCCTGAAACTGCCACAAAATAGTGGCTACATCTGGGTAGGAAAAGGTGCTAGCCAGGAGGAGGAGAAAGGAGCAGAGTATGTAGCAAGTGTCCTAAAGTGCAAAACCTTAAGGATCCAAGAAGGCGAGGAGCCAG
Seq C2 exon
AGGAGTTCTGGAATTCCCTTGGAGGGAAAAAAGACTACCAGACCTCACCACTACTGGAAACCCAGGCTGAAGACCATCCACCTCGGCTTTACGGCTGCTCTAACAAAACTGGAAGATTTGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.123 A=0.008 C2=0.410
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(15.2=21.1),PF0062617=Gelsolin=PU(8.6=10.5)
A:
PF0062617=Gelsolin=FE(84.3=100)
C2:
PF0062617=Gelsolin=PD(4.3=7.3),PF0062617=Gelsolin=PU(1.3=2.4)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTCTCCCAAGGCAAAGAGC
R:
TAAAGCCGAGGTGGATGGTCT
Band lengths:
258-436
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