Special

HsaEX6092724 @ hg38

Exon Skipping

Gene
ENSG00000080573 | COL5A3
Description
collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864]
Coordinates
chr19:9996615-9998025:-
Coord C1 exon
chr19:9997984-9998025
Coord A exon
chr19:9997371-9997433
Coord C2 exon
chr19:9996615-9996689
Length
63 bp
Sequences
Splice sites
3' ss Seq
TGTTTCTCTGTCCCCAACAGGGG
3' ss Score
10.81
5' ss Seq
CCGGTAAGA
5' ss Score
10.1
Exon sequences
Seq C1 exon
GGGCAGCAGTTTGAGGGACCTCCAGGAGCCCCAGGACCCCAA
Seq A exon
GGGGTGGTTGGCCCCTCAGGCCCTCCCGGCCCCCCAGGATTCCCTGGCGACCCTGGTCCACCG
Seq C2 exon
GGCCCTGCTGGCCTCCCAGGAATCCCCGGCATTGATGGGATCCGAGGCCCACCGGGCACTGTGATCATGATGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080573-'17-20,'17-19,18-20=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:
PF0139113=Collagen=FE(17.8=100)
A:
PF0139113=Collagen=FE(27.4=100)
C2:
PF0139113=Collagen=PD(27.4=80.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCAGCAGTTTGAGGGAC
R:
GGCATCATGATCACAGTGCCC
Band lengths:
116-179
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains