HsaEX0016394 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50196155-50196528:-
Coord C1 exon
chr17:50196484-50196528
Coord A exon
chr17:50196314-50196367
Coord C2 exon
chr17:50196155-50196199
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCTCTTGGTTTGGTTGTCAGGGC
3' ss Score
6.49
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTGAGCCTGGCAGCCCTGGTGAAAATGGAGCTCCTGGTCAGATG
Seq A exon
GGCCCCCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGGAGCCCCTGGCCCTGCT
Seq C2 exon
GGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'20-21,'20-20,21-21
Average complexity
S
Mappability confidence:
88%=75=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(13.3=53.3),PF0139113=Collagen=PU(8.3=33.3)
A:
PF0139113=Collagen=FE(28.3=100)
C2:
PF0139113=Collagen=FE(23.3=100)
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:
CTGGCAGCCCTGGTGAAAAT
R:
CCGGCAGCACCAGTAGCA
Band lengths:
76-130
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