HsaEX0016385 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50196314-50196670:-
Coord C1 exon
chr17:50196617-50196670
Coord A exon
chr17:50196484-50196528
Coord C2 exon
chr17:50196314-50196367
Length
45 bp
Sequences
Splice sites
3' ss Seq
CATTATTCTCTGATCTACAGGGT
3' ss Score
7.62
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GGTTTCAGTGGTTTGGATGGTGCCAAGGGAGATGCTGGTCCTGCTGGTCCTAAG
Seq A exon
GGTGAGCCTGGCAGCCCTGGTGAAAATGGAGCTCCTGGTCAGATG
Seq C2 exon
GGCCCCCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGGAGCCCCTGGCCCTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'18-20,'18-19,20-20
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(28.3=100)
A:
PF0139113=Collagen=PD(13.3=53.3),PF0139113=Collagen=PU(8.3=33.3)
C2:
PF0139113=Collagen=FE(28.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCAGTGGTTTGGATGGTGCC
R:
GGCGACCTCTCTCACCAGG
Band lengths:
85-130
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