Special

HsaEX6041098 @ hg19

Exon Skipping

Gene
ENSG00000134871 | COL4A2
Description
collagen, type IV, alpha 2 [Source:HGNC Symbol;Acc:2203]
Coordinates
chr13:111144417-111147814:+
Coord C1 exon
chr13:111144417-111144524
Coord A exon
chr13:111145558-111145629
Coord C2 exon
chr13:111147689-111147814
Length
72 bp
Sequences
Splice sites
3' ss Seq
GATGAGTGACACCCCCGCAGGTT
3' ss Score
4
5' ss Seq
CAGGTACTC
5' ss Score
7.04
Exon sequences
Seq C1 exon
GCTTTCCAGGGCTGACTGGGCCTCCAGGGTCGCAGGGAGAGCTGGGGCGGATTGGACTGCCTGGTGGCAAAGGAGATGATGGCTGGCCGGGAGCTCCGGGCTTACCAG
Seq A exon
GTTTTCCGGGACTCCGTGGGATCCGCGGCTTACACGGCTTGCCAGGCACCAAGGGCTTTCCAGGATCCCCAG
Seq C2 exon
GTTCTGACATCCACGGAGACCCAGGCTTCCCAGGCCCTCCTGGGGAAAGAGGTGACCCAGGAGAGGCCAACACCCTTCCAGGCCCTGTGGGAGTCCCAGGACAGAAAGGAGACCAAGGAGCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871-'48-49,'48-48,49-49=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(8.3=13.5),PF0139113=Collagen=PU(57.1=97.3)
A:
PF0139113=Collagen=FE(38.1=100)
C2:
PF0139113=Collagen=PD(3.2=4.7),PF0139113=Collagen=PU(42.9=90.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
GTGGCAAAGGAGATGATGGCT
R:
CTGGAGCTCCTTGGTCTCCTT
Band lengths:
171-243
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains