HsaEX0016385 @ hg19
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Coordinates
chr17:48270355-48274031:-
Coord C1 exon
chr17:48273978-48274031
Coord A exon
chr17:48273845-48273889
Coord C2 exon
chr17:48270355-48270408
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
GGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821_MULTIEX1-1/28=C1-14
Average complexity
C2
Mappability confidence:
93%=100=97%
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=PD(5.7=27.8)
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:
GGTTTCAGTGGTTTGGATGGTG
R:
CAGGGGGTCCGGGAACAC
Band lengths:
100-145
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)