HsaEX6023493 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50189679-50190108:-
Coord C1 exon
chr17:50190001-50190108
Coord A exon
chr17:50189859-50189912
Coord C2 exon
chr17:50189679-50189732
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCCTCTGTGCTCTCCTACAGGGT
3' ss Score
11.74
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
Exon sequences
Seq C1 exon
GGTGCTGACGGCCAACCTGGTGCTAAAGGCGAACCTGGTGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCATT
Seq A exon
GGTAATGTTGGTGCTCCTGGAGCCAAAGGTGCTCGCGGCAGCGCTGGTCCCCCT
Seq C2 exon
GGTGCTACTGGTTTCCCTGGTGCTGCTGGCCGAGTCGGTCCTCCTGGCCCCTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'54-52,'54-51,55-52
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=PD(33.3=55.6),PF0139113=Collagen=PU(27.0=47.2)
A:
PF0139113=Collagen=FE(27.0=100)
C2:
PF0139113=Collagen=FE(27.0=100)
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:
CAACCTGGTGCTAAAGGCGAA
R:
GGCCAGGAGGACCGACTC
Band lengths:
145-199
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains