Special

HsaEX6063871 @ hg19

Exon Skipping

Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137676835-137681054:+
Coord C1 exon
chr9:137676835-137676942
Coord A exon
chr9:137677841-137677894
Coord C2 exon
chr9:137681001-137681054
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCAACTCTTTCTTCCCCCAGGGA
3' ss Score
9.37
5' ss Seq
AAGGTAACT
5' ss Score
9.01
Exon sequences
Seq C1 exon
GGGGAGATCGGCCCACCCGGTCCCAGGGGAGAAGATGGCCCTGAAGGCCCAAAGGGTCGCGGAGGTCCCAATGGTGACCCCGGTCCTCTGGGACCCCCTGGGGAGAAG
Seq A exon
GGAAAACTCGGAGTCCCAGGGTTACCAGGGTATCCAGGAAGACAAGGACCAAAG
Seq C2 exon
GGCTCTATTGGATTCCCTGGATTTCCTGGCGCCAATGGAGAGAAGGGCGGCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'41-42,'41-40,42-42=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:
NO
A:
NO
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:
GGTCCCAGGGGAGAAGATGG
R:
CTTCTCTCCATTGGCGCCAG
Band lengths:
135-189
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains