HsaEX0016396 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50190001-50190596:-
Coord C1 exon
chr17:50190543-50190596
Coord A exon
chr17:50190327-50190380
Coord C2 exon
chr17:50190001-50190108
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCTGACTCCTTTTCTTCTAGGGA
3' ss Score
10.11
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
Exon sequences
Seq C1 exon
GGTGAAAGTGGTCCCAGCGGCCCTGCTGGTCCCACTGGAGCTCGTGGTGCCCCC
Seq A exon
GGAGACCGTGGTGAGCCTGGTCCCCCCGGCCCTGCTGGCTTTGCTGGCCCCCCT
Seq C2 exon
GGTGCTGACGGCCAACCTGGTGCTAAAGGCGAACCTGGTGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'51-50,'51-49,52-50
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(10.7=44.4),PF0139113=Collagen=FE(28.3=100)
A:
PF0139113=Collagen=FE(28.3=100)
C2:
PF0139113=Collagen=PD(33.3=55.6),PF0139113=Collagen=PU(27.0=47.2)
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:
GTGAAAGTGGTCCCAGCGG
R:
GACCAGCATCGCCTTTAGCAC
Band lengths:
120-174
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