Special

HsaEX0016407 @ hg19

Exon Skipping

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94040368-94049960:+
Coord C1 exon
chr7:94040368-94040466
Coord A exon
chr7:94041380-94041433
Coord C2 exon
chr7:94049853-94049960
Length
54 bp
Sequences
Splice sites
3' ss Seq
CATCCTCATTTATTTTATAGGGT
3' ss Score
10.09
5' ss Seq
GTCGTAAGT
5' ss Score
9.9
Exon sequences
Seq C1 exon
GGCCCTCCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGA
Seq A exon
GGTCTTCCTGGTTCCCCTGGAAATATCGGCCCCGCTGGAAAAGAAGGTCCTGTC
Seq C2 exon
GGTGCTGCTGGTCAACCTGGTGCTAAAGGAGAAAGAGGAGCCAAAGGGCCTAAGGGTGAAAACGGTGTTGTTGGTCCCACAGGCCCCGTTGGAGCTGCTGGCCCAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692_MULTIEX1-12/29=11-25
Average complexity
C3
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:
PF0139113=Collagen=PU(11.4=44.4)
C2:
PF0139113=Collagen=PU(17.7=38.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGGAGTCCGAGGACCTAAT
R:
TGGGACCAACAACACCGTTTT
Band lengths:
145-199
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development