Special

HsaEX6009035 @ hg19

Exon Skipping

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94038634-94039133:+
Coord C1 exon
chr7:94038634-94038732
Coord A exon
chr7:94038876-94038920
Coord C2 exon
chr7:94039035-94039133
Length
45 bp
Sequences
Splice sites
3' ss Seq
TCCTTTCCTTTTCCTCATAGGGT
3' ss Score
11.22
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
GGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCT
Seq A exon
GGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCT
Seq C2 exon
GGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'20-18,'20-17,21-18=AN
Average complexity
A_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:
PF0139113=Collagen=PD(1.2=3.0),PF0139113=Collagen=FE(37.6=100)
A:
PF0139113=Collagen=FE(16.5=100)
C2:
PF0139113=Collagen=PD(14.1=36.4)


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:
TAACGCTGGTCCTGCTGGTC
R:
CACCAACAGGGCCAGGAATAC
Band lengths:
146-191
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains