Special

HsaEX7002761 @ hg38

Exon Skipping

Gene
ENSG00000188517 | COL25A1
Description
collagen type XXV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:18603]
Coordinates
chr4:108901119-108920604:-
Coord C1 exon
chr4:108920578-108920604
Coord A exon
chr4:108918172-108918216
Coord C2 exon
chr4:108901119-108901172
Length
45 bp
Sequences
Splice sites
3' ss Seq
TTAATCATGTGTCTCTTTAGGGT
3' ss Score
11.32
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GGTCCTCTAGGGCCTCCGGGACAAAAG
Seq A exon
GGTTCTATTGGAGCACCTGGAATTCCAGGGATGAATGGGCAAAAG
Seq C2 exon
GGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188517-'33-32,'33-29,34-32=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=PD(10.5=66.7),PF0139113=Collagen=FE(13.8=100)
A:
PF0139113=Collagen=FE(14.6=100),PF0139113=Collagen=PU(11.5=73.3)
C2:
PF0139113=Collagen=FE(30.4=100),PF0139113=Collagen=PU(20.0=94.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCTCTAGGGCCTCCGG
R:
GGTCCTGGTATTCCATTCTGTCC
Band lengths:
76-121
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains