Special

HsaEX6009022 @ hg19

Exon Skipping

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94053648-94054975:+
Coord C1 exon
chr7:94053648-94053755
Coord A exon
chr7:94054429-94054536
Coord C2 exon
chr7:94054922-94054975
Length
108 bp
Sequences
Splice sites
3' ss Seq
TATCTTCTCTGCCTGTTTAGGGT
3' ss Score
10.59
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
GGACCTCCTGGCACTCCAGGTCCTCAGGGTCTTCTTGGTGCTCCTGGTATTCTGGGTCTCCCTGGCTCGAGAGGTGAACGTGGTCTACCAGGTGTTGCTGGTGCTGTG
Seq A exon
GGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGAT
Seq C2 exon
GGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'59-63,'59-61,60-63=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(22.1=52.8),PF0139113=Collagen=FE(38.9=100)
A:
PF0139113=Collagen=FE(38.9=100)
C2:
PF0139113=Collagen=PD(5.6=27.8)


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:
GGACCTCCTGGCACTCCA
R:
CTTGTGTCCGGGTTGACCATC
Band lengths:
162-270
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains