HsaEX0016384 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50186640-50187537:-
Coord C1 exon
chr17:50187484-50187537
Coord A exon
chr17:50187015-50187122
Coord C2 exon
chr17:50186640-50186922
Length
108 bp
Sequences
Splice sites
3' ss Seq
AACCATTTCCCCCACTCCAGGGT
3' ss Score
6.89
5' ss Seq
GTTGTATGT
5' ss Score
4.04
Exon sequences
Seq C1 exon
GGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGA
Seq A exon
GGTCCCCCTGGCTCTGCTGGTGCTCCTGGCAAAGATGGACTCAACGGTCTCCCTGGCCCCATTGGGCCCCCTGGTCCTCGCGGTCGCACTGGTGATGCTGGTCCTGTT
Seq C2 exon
GGTCCCCCCGGCCCTCCTGGACCTCCTGGTCCCCCTGGTCCTCCCAGCGCTGGTTTCGACTTCAGCTTCCTGCCCCAGCCACCTCAAGAGAAGGCTCACGATGGTGGCCGCTACTACCGGGCTGATGATGCCAATGTGGTTCGTGACCGTGACCTCGAGGTGGACACCACCCTCAAGAGCCTGAGCCAGCAGATCGAGAACATCCGGAGCCCAGAGGGCAGCCGCAAGAACCCCGCCCGCACCTGCCGTGACCTCAAGATGTGCCACTCTGACTGGAAGAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'71-64,'71-63,74-64
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=0.853
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(23.3=77.8),PF0139113=Collagen=PU(12.7=44.4)
A:
PF0139113=Collagen=FE(55.6=100)
C2:
PF0139113=Collagen=PD(27.0=17.9),PF0141013=COLFI=PU(12.3=28.4)
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:
GGTGAACAAGGTCCCTCTGGA
R:
TCCGGATGTTCTCGATCTGCT
Band lengths:
253-361
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