Special

HsaEX0016410 @ hg19

Exon Skipping

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94043534-94047864:+
Coord C1 exon
chr7:94043534-94043587
Coord A exon
chr7:94044538-94044582
Coord C2 exon
chr7:94047811-94047864
Length
45 bp
Sequences
Splice sites
3' ss Seq
TATTCTCATGTTTTGTCTAGGGT
3' ss Score
7.61
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGG
Seq A exon
GGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGA
Seq C2 exon
GGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692_MULTIEX1-18/29=17-21
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:
NO
C2:
PF0139113=Collagen=PD(10.8=38.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTGCCTGGCCCCTCAG
R:
CCATCTCTGCCAGGGTTACCA
Band lengths:
100-145
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