HsaEX6007216 @ hg38
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:HGNC:21695]
Coordinates
chr7:12571545-12581221:+
Coord C1 exon
chr7:12571545-12571625
Coord A exon
chr7:12578064-12578218
Coord C2 exon
chr7:12581060-12581221
Length
155 bp
Sequences
Splice sites
3' ss Seq
GCTGTTGTTCACTGTTTTAGGAA
3' ss Score
10.13
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GATTCTACCCGCACCATGCTGCTTGTGGGTCTGGTAGACAAAAACTCCGCTTCATTCGGAAGCTGGCGTCCTCAGATAGAA
Seq A exon
GAAAGGAGTGTTCCCAGGATGAAAGCACAGCTGCTGCCATCTTCACTGTTCAGATGGATGACTATTTGGGTGGCAAGCCAGTGCAGAATAGAGAACTTCAAGGATATGAGTCTAATGACTTTGTTAGCTATTTCAAAGGCGGTCTGAAATACAAG
Seq C2 exon
GCTGGAGGCGTGGCATCTGGATTAAATCATGTTCTTACGAACGACCTGACAGCCAAGAGGCTCCTACATGTGAAGGGTCGTAGAGTGGTGAGAGCCACAGAAGTTCCCCTTAGCTGGGACAGTTTCAACAAGGGTGACTGCTTCATCATTGACCTTGGCACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747-'1-3,'1-2,4-3=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.003 C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(2.3=3.6),PF0062617=Gelsolin=PU(2.3=3.6)
A:
PF0062617=Gelsolin=PD(49.4=78.8)
C2:
PF0062617=Gelsolin=PU(34.2=48.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATTCTACCCGCACCATGCTG
R:
GTGCCAAGGTCAATGATGAAGC
Band lengths:
242-397
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains