HsaEX6009035 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94409322-94409821:+
Coord C1 exon
chr7:94409322-94409420
Coord A exon
chr7:94409564-94409608
Coord C2 exon
chr7:94409723-94409821
Length
45 bp
Sequences
Splice sites
3' ss Seq
TCCTTTCCTTTTCCTCATAGGGT
3' ss Score
11.22
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
GGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCT
Seq A exon
GGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCT
Seq C2 exon
GGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'24-27,'24-26,25-27
Average complexity
S
Mappability confidence:
88%=100=75%
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(1.2=3.0),PF0139113=Collagen=FE(37.6=100)
A:
PF0139113=Collagen=FE(16.5=100)
C2:
PF0139113=Collagen=PD(14.1=36.4)
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:
TAACGCTGGTCCTGCTGGTC
R:
CACCAACAGGGCCAGGAATAC
Band lengths:
146-191
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains