HsaEX6009037 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94408336-94409420:+
Coord C1 exon
chr7:94408336-94408380
Coord A exon
chr7:94408770-94408823
Coord C2 exon
chr7:94409322-94409420
Length
54 bp
Sequences
Splice sites
3' ss Seq
ACCTTCTGCTTTGATTTCAGGGT
3' ss Score
9.9
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCT
Seq A exon
GGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAG
Seq C2 exon
GGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'21-25,'21-24,23-25
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(16.9=100),PF0139113=Collagen=PU(5.9=33.3)
A:
PF0139113=Collagen=FE(20.5=100),PF0139113=Collagen=FE(20.0=100)
C2:
PF0139113=Collagen=PD(1.2=3.0),PF0139113=Collagen=FE(37.6=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:
CCCGTGGCAGTGATGGAAG
R:
CCGGAGAGGCCTGGAAGAC
Band lengths:
124-178
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains