HsaEX0016382 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50187876-50188637:-
Coord C1 exon
chr17:50188530-50188637
Coord A exon
chr17:50188096-50188149
Coord C2 exon
chr17:50187876-50187983
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCTTTCCTTGCTCTCCCCAGGGT
3' ss Score
10.3
5' ss Seq
GCCGTAAGT
5' ss Score
10.11
Exon sequences
Seq C1 exon
GGTGACCGTGGTGAGACCGGCCCCGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCCTGGCCCCGTTGGCCCTGCTGGCAAGAGTGGTGATCGTGGTGAGACT
Seq A exon
GGTCCTGCTGGTCCCGCCGGTCCTGTCGGCCCTGTTGGCGCCCGTGGCCCCGCC
Seq C2 exon
GGACCCCAAGGCCCCCGTGGTGACAAGGGTGAGACAGGCGAACAGGGCGACAGAGGCATAAAGGGTCACCGTGGCTTCTCTGGCCTCCAGGGTCCCCCTGGCCCTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'65-61,'65-60,67-61
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:
NO
A:
PF0139113=Collagen=PU(13.3=44.4)
C2:
PF0139113=Collagen=FE(58.3=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:
GGTGCTCCTGGTGCTCCT
R:
CACGGTGACCCTTTATGCCTC
Band lengths:
145-199
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