Special

HsaEX6009021 @ hg38

Exon Skipping

Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94425117-94425857:+
Coord C1 exon
chr7:94425117-94425224
Coord A exon
chr7:94425610-94425663
Coord C2 exon
chr7:94425750-94425857
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTGTGTGGTGTCTTCACAGGGC
3' ss Score
9.88
5' ss Seq
AAGGTCAGT
5' ss Score
8.68
Exon sequences
Seq C1 exon
GGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGAT
Seq A exon
GGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAG
Seq C2 exon
GGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'68-68,'68-67,69-68
Average complexity
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=FE(38.9=100)
A:
PF0139113=Collagen=PD(5.6=27.8)
C2:
NO


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:
GGTAGTCCTGGAGTCAACGGT
R:
CACCACGGTTTCCATGTTTGC
Band lengths:
148-202
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains