Special

HsaEX6041093 @ hg19

Exon Skipping

Gene
ENSG00000134871 | COL4A2
Description
collagen, type IV, alpha 2 [Source:HGNC Symbol;Acc:2203]
Coordinates
chr13:111155730-111156611:+
Coord C1 exon
chr13:111155730-111155828
Coord A exon
chr13:111156194-111156340
Coord C2 exon
chr13:111156495-111156611
Length
147 bp
Sequences
Splice sites
3' ss Seq
CCTCTCTGTTTCCCTTCCAGGTG
3' ss Score
14.5
5' ss Seq
CAGGTAGAG
5' ss Score
7.1
Exon sequences
Seq C1 exon
GGCCCAGGGGTGAACAAGGCTTCATGGGGAACACTGGACCCACTGGGGCGGTGGGCGACAGAGGCCCCAAGGGACCCAAGGGAGACCCAGGATTCCCTG
Seq A exon
GTGCCCCCGGGACTGTGGGAGCCCCCGGGATTGCAGGAATCCCCCAGAAGATTGCCGTCCAACCAGGGACAGTGGGTCCCCAGGGGAGGCGAGGCCCCCCTGGGGCACCGGGGGAGATGGGGCCCCAGGGCCCCCCCGGAGAACCAG
Seq C2 exon
GTTTCCGTGGGGCTCCAGGGAAAGCTGGGCCCCAAGGAAGAGGTGGTGTGTCTGCTGTTCCCGGCTTCCGGGGAGATGAAGGACCCATAGGCCACCAGGGGCCGATTGGCCAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871-'53-54,'53-53,54-54=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=FE(50.8=100)
A:
PF0139113=Collagen=PD(24.6=32.0),PF0139113=Collagen=PU(58.5=62.0)
C2:
PF0139113=Collagen=PD(39.6=52.5),PF0139113=Collagen=PU(62.1=90.0)


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:
AGGGGTGAACAAGGCTTCATG
R:
CCAATCGGCCCCTGGTGG
Band lengths:
203-350
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains