DreEX0006000 @ danRer10
Exon Skipping
Gene
ENSDARG00000041602 | MMADHC (2 of 2)
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:HGNC Symbol;Acc:HGNC:25221]
Coordinates
chr22:12570367-12572173:+
Coord C1 exon
chr22:12570367-12570447
Coord A exon
chr22:12571906-12571946
Coord C2 exon
chr22:12572029-12572173
Length
41 bp
Sequences
Splice sites
3' ss Seq
GGTGTGTTCGTGTGTTGCAGGTT
3' ss Score
9.86
5' ss Seq
AGTGTGAGT
5' ss Score
6.96
Exon sequences
Seq C1 exon
CTTTTGGACTTGCGGCTCTCCGTCATGACGTCACGACTTTGGTGAAAACGTGATCAGCAGAATCTGGTGAAGGCAAGCAAG
Seq A exon
GTTGCAGTTGTAGTGGAGTCGTGTGCAGCGTCATGGCGAGT
Seq C2 exon
GTGTTGTGCAGGAGGGTCAGGCAGGTGAGCCACTCGTCTGTCGTTCACTCTTTGGCTCAGAAAATTCTGGCAGTTCGAGCGTTTTCAGCCGCAGGGTCGTCTGGATCAGATGAGCCCTATATTGCTGTACCGTCTCAAAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000041602_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.263
Domain overlap (PFAM):
C1:
NA
A:
PF102294=DUF2246=PU(1.1=66.7)
C2:
PF102294=DUF2246=PU(12.0=65.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACGTCACGACTTTGGTGAA
R:
AAAACGCTCGAACTGCCAGAA
Band lengths:
141-182
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]