Special

HsaEX6007215 @ hg19

Exon Skipping

Gene
Description
scinderin [Source:HGNC Symbol;Acc:21695]
Coordinates
chr7:12617689-12644288:+
Coord C1 exon
chr7:12617689-12617843
Coord A exon
chr7:12620685-12620846
Coord C2 exon
chr7:12644139-12644288
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-'4-10,'4-3,6-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.005 A=0.000 C2=0.070
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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
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