HsaEX6023492 @ hg19
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Coordinates
chr17:48272593-48273026:-
Coord C1 exon
chr17:48272928-48273026
Coord A exon
chr17:48272795-48272839
Coord C2 exon
chr17:48272593-48272691
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTCCTTTCTCTGTGCCACAGGGA
3' ss Score
9.83
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
GGTGAAGCTGGTCCCCAAGGGCCCCGAGGCTCTGAAGGTCCCCAGGGTGTGCGTGGTGAGCCTGGCCCCCCTGGCCCTGCTGGTGCTGCTGGCCCTGCT
Seq A exon
GGAAACCCTGGTGCTGATGGACAGCCTGGTGCTAAAGGTGCCAAT
Seq C2 exon
GGTGCTCCTGGTATTGCTGGTGCTCCTGGCTTCCCTGGTGCCCGAGGCCCCTCTGGACCCCAGGGCCCCGGCGGCCCTCCTGGTCCCAAGGGTAACAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'23-27,'23-26,24-27=AN
Average complexity
A_S
Mappability confidence:
88%=100=75%
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(3.3=6.1),PF0139113=Collagen=PU(48.3=87.9)
A:
PF0139113=Collagen=FE(23.3=100)
C2:
PF0139113=Collagen=PD(23.3=42.4),PF0139113=Collagen=PU(37.1=78.8)
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:
GTGTGCGTGGTGAGCCTG
R:
TTACCCTTGGGACCAGGAGG
Band lengths:
148-193
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)