Special

HsaEX6062670 @ hg19

Exon Skipping

Gene
ENSG00000196739 | COL27A1
Description
collagen, type XXVII, alpha 1 [Source:HGNC Symbol;Acc:22986]
Coordinates
chr9:117012895-117015212:+
Coord C1 exon
chr9:117012895-117012948
Coord A exon
chr9:117014873-117014926
Coord C2 exon
chr9:117015159-117015212
Length
54 bp
Sequences
Splice sites
3' ss Seq
CATTGCTGTCTCCATCACAGGGT
3' ss Score
8.5
5' ss Seq
ATGGTAAGG
5' ss Score
9.33
Exon sequences
Seq C1 exon
GGATTTATGGGATTCATTGGTCTGGTCGGGGAGCCAGGAATCGTGGGAGAAAAG
Seq A exon
GGTGATCGTGGCATGATGGGACCCCCAGGCGTGCCTGGACCCAAGGGGTCGATG
Seq C2 exon
GGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739-'35-36,'35-35,36-36=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(15.1=72.2)
A:
NO
C2:
PF0139113=Collagen=PU(25.8=94.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGGATTCATTGGTCTGGTCG
R:
GGGGTCCAGGCTCTCCAG
Band lengths:
100-154
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains