HsaEX0016397 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50189859-50190380:-
Coord C1 exon
chr17:50190327-50190380
Coord A exon
chr17:50190001-50190108
Coord C2 exon
chr17:50189859-50189912
Length
108 bp
Sequences
Splice sites
3' ss Seq
CGCCCTGCTTCCTCCCCCAGGGT
3' ss Score
11.78
5' ss Seq
ATTGTGAGT
5' ss Score
7.35
Exon sequences
Seq C1 exon
GGAGACCGTGGTGAGCCTGGTCCCCCCGGCCCTGCTGGCTTTGCTGGCCCCCCT
Seq A exon
GGTGCTGACGGCCAACCTGGTGCTAAAGGCGAACCTGGTGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCATT
Seq C2 exon
GGTAATGTTGGTGCTCCTGGAGCCAAAGGTGCTCGCGGCAGCGCTGGTCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'52-51,'52-50,54-51
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(33.3=55.6),PF0139113=Collagen=PU(27.0=47.2)
C2:
PF0139113=Collagen=FE(27.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGACCGTGGTGAGCCT
R:
GCGAGCACCTTTGGCTCC
Band lengths:
90-198
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