HsaEX6023490 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50196484-50197063:-
Coord C1 exon
chr17:50197010-50197063
Coord A exon
chr17:50196617-50196670
Coord C2 exon
chr17:50196484-50196528
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTACCTCTTTCCTGCTTTAGGGT
3' ss Score
11.34
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA
Seq A exon
GGTTTCAGTGGTTTGGATGGTGCCAAGGGAGATGCTGGTCCTGCTGGTCCTAAG
Seq C2 exon
GGTGAGCCTGGCAGCCCTGGTGAAAATGGAGCTCCTGGTCAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'15-19,'15-17,18-19
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:
PF0139113=Collagen=FE(28.3=100)
A:
PF0139113=Collagen=FE(28.3=100)
C2:
PF0139113=Collagen=PD(13.3=53.3),PF0139113=Collagen=PU(8.3=33.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGATTGCCCGGAACAGC
R:
CATCTGACCAGGAGCTCCATT
Band lengths:
92-146
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains