DreALTD0001438-1/2 @ danRer10
Alternative 5'ss
Gene
ENSDARG00000041602 | MMADHC (2 of 2)
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:HGNC Symbol;Acc:HGNC:25221]
Coordinates
chr22:12570347-12571946:+
Coord C1 exon
chr22:12570347-12570447
Coord A exon
NA
Coord C2 exon
chr22:12571906-12571946
Length
0 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
3' ss Seq
GGTGTGTTCGTGTGTTGCAGGTT
3' ss Score
9.86
Exon sequences
Seq C1 exon
TCTCCTGTGTGTTTTCGCGGCTTTTGGACTTGCGGCTCTCCGTCATGACGTCACGACTTTGGTGAAAACGTGATCAGCAGAATCTGGTGAAGGCAAGCAAG
Seq A exon
NA
Seq C2 exon
GTTGCAGTTGTAGTGGAGTCGTGTGCAGCGTCATGGCGAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000041602-0-0,1-0-1/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF102294=DUF2246=PU(1.1=66.7)
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Human
(hg38)
No conservation detected
Human
(hg19)
No conservation detected
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTGTGTTTTCGCGGCTTTT
R:
ACTCGCCATGACGCTGCA
Band lengths:
138-310
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]