HsaEX0016403 @ hg19
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Coordinates
chr17:48267362-48272691:-
Coord C1 exon
chr17:48272593-48272691
Coord A exon
chr17:48272408-48272461
Coord C2 exon
chr17:48267362-48267469
Length
54 bp
Sequences
Splice sites
3' ss Seq
CCTCTTCTCCCCCCTTGCAGGGT
3' ss Score
12.9
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGTGCTCCTGGTATTGCTGGTGCTCCTGGCTTCCCTGGTGCCCGAGGCCCCTCTGGACCCCAGGGCCCCGGCGGCCCTCCTGGTCCCAAGGGTAACAGC
Seq A exon
GGTGAACCTGGTGCTCCTGGCAGCAAAGGAGACACTGGTGCTAAGGGAGAGCCT
Seq C2 exon
GGTGCTGACGGCCAACCTGGTGCTAAAGGCGAACCTGGTGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821_MULTIEX1-8/28=7-24
Average complexity
C3
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=PD(23.3=42.4),PF0139113=Collagen=PU(37.1=78.8)
A:
PF0139113=Collagen=FE(24.3=100)
C2:
PF0139113=Collagen=PD(33.3=55.6),PF0139113=Collagen=PU(28.1=50.0)
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:
CTGGTATTGCTGGTGCTCCTG
R:
TTTAGCACCAGCATCACCAGG
Band lengths:
146-200
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)