HsaEX0016392 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50191788-50192528:-
Coord C1 exon
chr17:50192475-50192528
Coord A exon
chr17:50191980-50192024
Coord C2 exon
chr17:50191788-50191886
Length
45 bp
Sequences
Splice sites
3' ss Seq
CCTCTCTCCCTCCCCCTCAGGGT
3' ss Score
11.7
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGTCTCCCTGGTCCTGCTGGTCCTCCAGGTGAAGCAGGCAAACCTGGTGAACAG
Seq A exon
GGTGTTCCTGGAGACCTTGGCGCCCCTGGCCCCTCTGGAGCAAGA
Seq C2 exon
GGCGAGAGAGGTTTCCCTGGCGAGCGTGGTGTGCAAGGTCCCCCTGGTCCTGCTGGTCCCCGAGGGGCCAACGGTGCTCCCGGCAACGATGGTGCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'44-43,'44-42,45-43
Average complexity
S*
Mappability confidence:
NA
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
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTCCTCCAGGTGAAGCAG
R:
CTTAGCACCATCGTTGCCGG
Band lengths:
136-181
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