HsaEX6009033 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94409723-94410527:+
Coord C1 exon
chr7:94409723-94409821
Coord A exon
chr7:94410242-94410295
Coord C2 exon
chr7:94410420-94410527
Length
54 bp
Sequences
Splice sites
3' ss Seq
TGTTCTGTATTGAACCCTAGGGT
3' ss Score
8.24
5' ss Seq
CCCGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
GGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTT
Seq A exon
GGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCC
Seq C2 exon
GGCTCTGCTGGGCCCCAAGGTCCTCCTGGTCCCAGTGGTGAAGAAGGAAAGAGAGGCCCTAATGGGGAAGCTGGATCTGCCGGCCCTCCAGGACCTCCTGGGCTGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'27-30,'27-28,28-30
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(14.1=36.4)
A:
NO
C2:
NO
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:
GTATTCCTGGCCCTGTTGGTG
R:
GCAGATCCAGCTTCCCCATTA
Band lengths:
133-187
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains