Special

HsaEX6063859 @ hg19

Exon Skipping

Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137701029-137703238:+
Coord C1 exon
chr9:137701029-137701136
Coord A exon
chr9:137702101-137702154
Coord C2 exon
chr9:137703185-137703238
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCCCCCACACCTTCCCCTAGGGA
3' ss Score
8.66
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GGCGAGAAAGGCCCACAAGGCCCAGCTGGCCGAGACGGTCTCCAGGGGCCTGTGGGGCTCCCGGGTCCAGCTGGCCCTGTGGGTCCCCCTGGAGAAGACGGAGATAAG
Seq A exon
GGAGAGATCGGGGAGCCGGGGCAGAAAGGAAGCAAGGGGGACAAAGGAGAACAG
Seq C2 exon
GGTCCTCCTGGGCCTACAGGTCCTCAAGGCCCCATCGGACAGCCAGGCCCCTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'58-59,'58-58,59-59=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGAGAAAGGCCCACAAGG
R:
CTTGAGGACCTGTAGGCCCAG
Band lengths:
135-189
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains