HsaEX0016376 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50191980-50192693:-
Coord C1 exon
chr17:50192640-50192693
Coord A exon
chr17:50192475-50192528
Coord C2 exon
chr17:50191980-50192024
Length
54 bp
Sequences
Splice sites
3' ss Seq
CCCCCATTTCCCACCTACAGGGT
3' ss Score
10.75
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GGTCCCGCTGGCGAGAGAGGTGAACAAGGCCCTGCTGGCTCCCCCGGATTCCAG
Seq A exon
GGTCTCCCTGGTCCTGCTGGTCCTCCAGGTGAAGCAGGCAAACCTGGTGAACAG
Seq C2 exon
GGTGTTCCTGGAGACCTTGGCGCCCCTGGCCCCTCTGGAGCAAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'43-42,'43-40,44-42
Average complexity
S
Mappability confidence:
89%=100=80%
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:
NO
A:
NO
C2:
NO
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:
CTGGCGAGAGAGGTGAACAAG
R:
TCTTGCTCCAGAGGGGCC
Band lengths:
92-146
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