DreEX0046861 @ danRer10
Exon Skipping
Gene
ENSDARG00000005870 | mmadhc
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:ZFIN;Acc:ZDB-GENE-040704-50]
Coordinates
chr9:23238631-23240255:+
Coord C1 exon
chr9:23238631-23238721
Coord A exon
chr9:23239909-23239947
Coord C2 exon
chr9:23240117-23240255
Length
39 bp
Sequences
Splice sites
3' ss Seq
ACATTTTTTTCTACCTACAGGTG
3' ss Score
12.18
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
CTTTACTCGCCGCCGTTGTTACGTAATCAGAAGGTTAAACAAGACTAGCTTGAAGTAAGCTAACAGCTAACATACACACTACAAAATTCAG
Seq A exon
GTGAACCGTAAACAAGAGAAGCCCAACAGGATGGCCAGT
Seq C2 exon
GTGCTCTGCAGCAGAGCTCGACTGGTGACGTACCTACCAGGGCTTCATGTTCTAGTTCATCGTGTTGTTGGAGCAAGAAGTTTCTCTGGGGCGTCAGGATCAGATGAGCCACACCTGAACACCTCAACTCCTGACATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000005870-'0-1,'0-0,2-1
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=0.383
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF102294=DUF2246=PU(10.9=63.8)
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:
CTTTACTCGCCGCCGTTGTTA
R:
TACGTCACCAGTCGAGCTCTG
Band lengths:
123-162
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]