HsaEX6009030 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94410889-94412121:+
Coord C1 exon
chr7:94410889-94410942
Coord A exon
chr7:94411056-94411154
Coord C2 exon
chr7:94412068-94412121
Length
99 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTGAATAGGGC
3' ss Score
10.01
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATG
Seq A exon
GGCCCTCCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGA
Seq C2 exon
GGTCTTCCTGGTTCCCCTGGAAATATCGGCCCCGCTGGAAAAGAAGGTCCTGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'31-33,'31-32,32-33
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:
NO
A:
NO
C2:
PF0139113=Collagen=PU(11.4=44.4)
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:
GGTAGTCCTGGTTCTCGTGGT
R:
CAGGACCTTCTTTTCCAGCGG
Band lengths:
106-205
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains