HsaEX1009342 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94422957-94425224:+
Coord C1 exon
chr7:94422957-94423118
Coord A exon
chr7:94424336-94424443
Coord C2 exon
chr7:94425117-94425224
Length
108 bp
Sequences
Splice sites
3' ss Seq
AGTATTTTTTCTCTATTTAGGGA
3' ss Score
8.81
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GGTATTTCTGGCCCTCCTGGTCCCCCTGGTCCTGCTGGGAAAGAAGGGCTTCGTGGTCCTCGTGGTGACCAAGGTCCAGTTGGCCGAACTGGAGAAGTAGGTGCAGTTGGTCCCCCTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCT
Seq A exon
GGACCTCCTGGCACTCCAGGTCCTCAGGGTCTTCTTGGTGCTCCTGGTATTCTGGGTCTCCCTGGCTCGAGAGGTGAACGTGGTCTACCAGGTGTTGCTGGTGCTGTG
Seq C2 exon
GGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'61-65,'61-62,67-65
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(34.2=50.0),PF0139113=Collagen=FE(61.6=100),PF0139113=Collagen=PU(12.2=20.4)
A:
PF0139113=Collagen=PD(22.1=52.8),PF0139113=Collagen=FE(38.9=100)
C2:
PF0139113=Collagen=FE(38.9=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATTTCTGGCCCTCCTGGTCC
R:
CGTTGACTCCAGGACTACCCA
Band lengths:
242-350
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains