HsaEX6007215 @ hg38
Exon Skipping
Gene
ENSG00000006747 | SCIN
Description
scinderin [Source:HGNC Symbol;Acc:HGNC:21695]
Coordinates
chr7:12578064-12604663:+
Coord C1 exon
chr7:12578064-12578218
Coord A exon
chr7:12581060-12581221
Coord C2 exon
chr7:12604514-12604663
Length
162 bp
Sequences
Splice sites
3' ss Seq
TGTCTTCCCTCATTCATCAGGCT
3' ss Score
8.64
5' ss Seq
ACCGTAAGT
5' ss Score
10.43
Exon sequences
Seq C1 exon
GAAAGGAGTGTTCCCAGGATGAAAGCACAGCTGCTGCCATCTTCACTGTTCAGATGGATGACTATTTGGGTGGCAAGCCAGTGCAGAATAGAGAACTTCAAGGATATGAGTCTAATGACTTTGTTAGCTATTTCAAAGGCGGTCTGAAATACAAG
Seq A exon
GCTGGAGGCGTGGCATCTGGATTAAATCATGTTCTTACGAACGACCTGACAGCCAAGAGGCTCCTACATGTGAAGGGTCGTAGAGTGGTGAGAGCCACAGAAGTTCCCCTTAGCTGGGACAGTTTCAACAAGGGTGACTGCTTCATCATTGACCTTGGCACC
Seq C2 exon
GAAATTTATCAGTGGTGTGGTTCCTCGTGCAACAAATATGAACGTCTGAAGGCAAACCAGGTAGCTACTGGCATTCGGTACAATGAAAGGAAAGGAAGGTCTGAACTAATTGTCGTGGAAGAAGGAAGTGAACCCTCAGAACTTATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006747-'4-11,'4-3,6-11
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.003 A=0.000 C2=0.052
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(49.4=78.8)
A:
PF0062617=Gelsolin=PU(34.2=48.1)
C2:
PF0062617=Gelsolin=PD(63.2=96.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGCCATCTTCACTGTTCAGA
R:
GGGTTCACTTCCTTCTTCCACG
Band lengths:
258-420
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains