HsaEX0016415 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94421899-94424443:+
Coord C1 exon
chr7:94421899-94421952
Coord A exon
chr7:94422957-94423118
Coord C2 exon
chr7:94424336-94424443
Length
162 bp
Sequences
Splice sites
3' ss Seq
CCTTGTACATTTGCTCATAGGGT
3' ss Score
7.08
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCT
Seq A exon
GGTATTTCTGGCCCTCCTGGTCCCCCTGGTCCTGCTGGGAAAGAAGGGCTTCGTGGTCCTCGTGGTGACCAAGGTCCAGTTGGCCGAACTGGAGAAGTAGGTGCAGTTGGTCCCCCTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCT
Seq C2 exon
GGACCTCCTGGCACTCCAGGTCCTCAGGGTCTTCTTGGTGCTCCTGGTATTCTGGGTCTCCCTGGCTCGAGAGGTGAACGTGGTCTACCAGGTGTTGCTGGTGCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'58-62,'58-60,61-62
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(21.5=100),PF0139113=Collagen=PU(12.8=61.1)
A:
PF0139113=Collagen=PD(34.2=50.0),PF0139113=Collagen=FE(61.6=100),PF0139113=Collagen=PU(12.2=20.4)
C2:
PF0139113=Collagen=PD(22.1=52.8),PF0139113=Collagen=FE(38.9=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:
GGTATGACTGGTTTCCCTGGTG
R:
CACAGCACCAGCAACACCTG
Band lengths:
162-324
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