Special

HsaEX0016605 @ hg19

Exon Skipping

Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137658300-137659200:+
Coord C1 exon
chr9:137658300-137658344
Coord A exon
chr9:137658846-137658899
Coord C2 exon
chr9:137659156-137659200
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTGCTCTTGTCTCCTGTAGGGT
3' ss Score
11.7
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GGTGTCACGGGTATGGACGGCCAGCCGGGGCCAAAAGGAAATGTG
Seq A exon
GGTCCCCAGGGAGAGCCTGGCCCCCCAGGACAGCAGGGTAATCCAGGCGCCCAG
Seq C2 exon
GGTCTTCCAGGCCCCCAGGGTGCAATTGGTCCTCCAGGAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'31-31,'31-30,32-31
Average complexity
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(14.4=100)
A:
PF0139113=Collagen=FE(17.5=100),PF0139113=Collagen=PU(22.4=94.4)
C2:
PF0139113=Collagen=PD(2.1=13.3),PF0139113=Collagen=FE(18.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGTCACGGGTATGGACGG
R:
CTCCTGGAGGACCAATTGCAC
Band lengths:
85-139
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development