Special

HsaEX0016475 @ hg38

Exon Skipping

Gene
ENSG00000188517 | COL25A1
Description
collagen type XXV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:18603]
Coordinates
chr4:108817397-108841721:-
Coord C1 exon
chr4:108841695-108841721
Coord A exon
chr4:108824174-108824227
Coord C2 exon
chr4:108817397-108817435
Length
54 bp
Sequences
Splice sites
3' ss Seq
GTTTGCTTTTTATCTTACAGGGC
3' ss Score
11.83
5' ss Seq
AAGGTGACC
5' ss Score
6.78
Exon sequences
Seq C1 exon
GGACCTCATGGACTTCCTGGACCAAAG
Seq A exon
GGCTTCCCTGGTCCACGGGGTGAGAAGGGTGATCTAGGAGAAAAGGGAGAAAAG
Seq C2 exon
GGGCCAGATGGCTTACCCATGCCTGGCTGTTGGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188517_MULTIEX2-7/10=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.807 A=0.873 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(10.3=100),PF0139113=Collagen=FE(11.3=100)
A:
PF0139113=Collagen=PD(15.5=72.2),PF0139113=Collagen=FE(23.0=100)
C2:
PF0139113=Collagen=PD(38.5=71.4)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000399127fB12756


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACCTCATGGACTTCCTGGA
R:
CAGGCATGGGTAAGCCATCTG
Band lengths:
52-106
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