Special

HsaEX1009380 @ hg38

Exon Skipping

Gene
ENSG00000188517 | COL25A1
Description
collagen type XXV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:18603]
Coordinates
chr4:108860927-108863387:-
Coord C1 exon
chr4:108863319-108863387
Coord A exon
chr4:108861651-108861733
Coord C2 exon
chr4:108860927-108860971
Length
83 bp
Sequences
Splice sites
3' ss Seq
GAACCTTTAAATCTACACAGGTT
3' ss Score
6.05
5' ss Seq
GAGGTAATG
5' ss Score
8.73
Exon sequences
Seq C1 exon
GGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAG
Seq A exon
GTTCGAATCTCTTCTCCAAAGTTTCAGTTTACATTTCTAAGAATTTTGAGGGCTTGGACTATTCCTGCTGCTCTACAGTTGAG
Seq C2 exon
GGGGATCGTGGAGAAAAAGGGGACTCTGGAGCTCAGGGACCAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188517_MULTIEX4-2/3=C1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.179 C2=0.921
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(16.1=43.5),PF0139113=Collagen=PU(22.8=56.5)
A:
NO
C2:
PF0139113=Collagen=FE(24.6=100)


Main Inclusion Isoform:
ENST00000399132fB12758


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
CTCCTGGAAGAGGTGAGCGAG
R:
CTTGGTCCCTGAGCTCCAGAG
Band lengths:
91-174
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains