Special

HsaEX0016505 @ hg19

Exon Skipping

Gene
ENSG00000196739 | COL27A1
Description
collagen, type XXVII, alpha 1 [Source:HGNC Symbol;Acc:22986]
Coordinates
chr9:117064362-117068968:+
Coord C1 exon
chr9:117064362-117064388
Coord A exon
chr9:117066888-117066953
Coord C2 exon
chr9:117068800-117068968
Length
66 bp
Sequences
Splice sites
3' ss Seq
CCTGTCTTTTCCTTGCCCAGCAA
3' ss Score
7.57
5' ss Seq
GAGGTATCT
5' ss Score
7.27
Exon sequences
Seq C1 exon
GGTCCTCCAGGGGGTCCTATCCAATTG
Seq A exon
CAACAAGATGATCTTGGGGCAGCTTTCCAGACGTGGATGGACACCAGTGGAGCACTCAGGCCAGAG
Seq C2 exon
AGTTACAGCTATCCAGACCGGCTGGTGCTGGACCAGGGAGGAGAGATCTTTAAAACCTTACACTACCTCAGCAACCTCATCCAGAGCATTAAGACGCCCCTGGGCACCAAAGAGAACCCCGCCCGGGTCTGCAGGGACCTCATGGACTGTGAGCAGAAGATGGTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739_MULTIEX5-1/3=C1-2
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=0.626 C2=0.123
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(11.3=77.8)
A:
NO
C2:
PF0141013=COLFI=PU(39.1=47.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCAGGGGGTCCTATCCAAT
R:
CTCACAGTCCATGAGGTCCCT
Band lengths:
176-242
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