Special

HsaEX0016500 @ hg19

Exon Skipping

Gene
ENSG00000196739 | COL27A1
Description
collagen, type XXVII, alpha 1 [Source:HGNC Symbol;Acc:22986]
Coordinates
chr9:117029784-117033061:+
Coord C1 exon
chr9:117029784-117029837
Coord A exon
chr9:117031521-117031574
Coord C2 exon
chr9:117033008-117033061
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTTGTTCGGCTTCTCCTAGGGT
3' ss Score
7.64
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
Exon sequences
Seq C1 exon
GGGCCGCCTGGTGCAGTGGGAGAACCGGGCCTTCCTGGGGAAGCCGGGATGAAG
Seq A exon
GGTGACCTTGGACCCCTGGGCACTCCTGGGGAGCAGGGCCTCATTGGGCAACGG
Seq C2 exon
GGAGAGCCAGGCCTTGAGGGTGACAGTGGCCCCATGGGACCTGATGGGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739_MULTIEX3-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.991 A=0.912 C2=0.955
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(20.5=100)
A:
PF0139113=Collagen=FE(20.5=100),PF0139113=Collagen=PU(19.2=83.3)
C2:
PF0139113=Collagen=PD(12.0=55.6),PF0139113=Collagen=FE(21.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGTGCAGTGGGAGAACC
R:
CTTCAGCCCATCAGGTCCCAT
Band lengths:
101-155
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development