Special

HsaEX6009034 @ hg38

Exon Skipping

Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94409564-94410295:+
Coord C1 exon
chr7:94409564-94409608
Coord A exon
chr7:94409723-94409818
Coord C2 exon
chr7:94410242-94410295
Length
96 bp
Sequences
Splice sites
3' ss Seq
CACTGCATTTTCCTTCACAGGGC
3' ss Score
10.41
5' ss Seq
CTTGTTGTA
5' ss Score
-28.41
Exon sequences
Seq C1 exon
GGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCT
Seq A exon
GGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTT
Seq C2 exon
GGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'25-28,'25-27,26-28
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=FE(16.5=100)
A:
PF0139113=Collagen=PD(14.1=36.4)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTAATCCTGGAGCAAACGGC
R:
TCACCCTTGTTACCGCTCTCT
Band lengths:
95-191
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains