HsaEX6009025 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94416405-94418552:+
Coord C1 exon
chr7:94416405-94416503
Coord A exon
chr7:94417724-94417831
Coord C2 exon
chr7:94418499-94418552
Length
108 bp
Sequences
Splice sites
3' ss Seq
TCACATGTGTTTGACTCAAGGGT
3' ss Score
4.45
5' ss Seq
AAGGTACGT
5' ss Score
10.75
Exon sequences
Seq C1 exon
GGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAG
Seq A exon
GGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGGTCCTAGTGGACTCCCAGGAGAGAGGGGTGCTGCTGGCATACCTGGAGGCAAGGGAGAAAAG
Seq C2 exon
GGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'41-48,'41-45,43-48
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=PU(30.8=60.6)
A:
PF0139113=Collagen=FE(53.8=100)
C2:
PF0139113=Collagen=PD(10.8=38.9)
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:
GGTCCCCCAGGTGAGAGTG
R:
ACCATCTCTGCCAGGGTTACC
Band lengths:
138-246
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains