HsaEX1009346 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94427008-94427885:+
Coord C1 exon
chr7:94427008-94427061
Coord A exon
chr7:94427188-94427295
Coord C2 exon
chr7:94427627-94427885
Length
108 bp
Sequences
Splice sites
3' ss Seq
CTGGTGTCTGTCTTCCTTAGGGC
3' ss Score
11.69
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGG
Seq A exon
GGCCCTGCTGGTCCTTCTGGCCCTGCTGGAAAAGATGGTCGCACTGGACATCCTGGTACAGTTGGACCTGCTGGCATTCGAGGCCCTCAGGGTCACCAAGGCCCTGCT
Seq C2 exon
GGCCCCCCTGGTCCCCCTGGCCCTCCTGGACCTCCAGGTGTAAGCGGTGGTGGTTATGACTTTGGTTACGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCACCTTCTCTCAGACCCAAGGACTATGAAGTTGATGCTACTCTGAAGTCTCTCAACAACCAGATTGAGACCCTTCTTACTCCTGAAGGCTCTAGAAAGAACCCAGCTCGCACATGCCGTGACTTGAGACTCAGCCACCCAGAGTGGAGCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'77-77,'77-75,81-77
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=0.885
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PU(11.4=44.4)
A:
PF0139113=Collagen=FE(50.0=100)
C2:
PF0139113=Collagen=PD(34.3=27.6),PF0141013=COLFI=PU(12.4=31.0)
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:
CCATGGTGATCAAGGTGCTCC
R:
AGCCTTCAGGAGTAAGAAGGGT
Band lengths:
245-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains