Special

HsaEX6017426 @ hg19

Exon Skipping

Gene
ENSG00000204262 | COL5A2
Description
collagen, type V, alpha 2 [Source:HGNC Symbol;Acc:2210]
Coordinates
chr2:189916046-189917528:-
Coord C1 exon
chr2:189917475-189917528
Coord A exon
chr2:189916898-189916951
Coord C2 exon
chr2:189916046-189916207
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATATGATATTCTGGTTCTAGGGT
3' ss Score
7.36
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTCCTAATGGTGTTCCTGGACTAAAAGGTGGTCGAGGAACCCAAGGTCCGCCT
Seq A exon
GGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCT
Seq C2 exon
GGAGCTCCAGGACCTGCGGGACCCCTAGGGGAACCCGGGAAGGAGGGACCTCCAGGTCTTCGTGGGGACCCTGGCTCTCATGGGCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262-'48-48,'48-47,49-48=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(22.5=88.9),PF0139113=Collagen=FE(18.5=100)
A:
PF0139113=Collagen=FE(18.5=100),PF0139113=Collagen=PU(9.5=44.4)
C2:
PF0139113=Collagen=PD(33.7=57.4),PF0139113=Collagen=FE(63.1=100),PF0139113=Collagen=PU(37.6=59.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAGGTGGTCGAGGAACCCAA
R:
CTGGTCCTCGATCTCCCACAC
Band lengths:
136-190
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains