DreEX6036169 @ danRer10
Exon Skipping
Gene
ENSDARG00000005870 | mmadhc
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:ZFIN;Acc:ZDB-GENE-040704-50]
Coordinates
chr9:23239909-23240664:+
Coord C1 exon
chr9:23239909-23239947
Coord A exon
chr9:23240117-23240255
Coord C2 exon
chr9:23240447-23240664
Length
139 bp
Sequences
Splice sites
3' ss Seq
TGTTTGCTGTGTTTTGTCAGGTG
3' ss Score
9.07
5' ss Seq
TTGGTAAAT
5' ss Score
4.94
Exon sequences
Seq C1 exon
GTGAACCGTAAACAAGAGAAGCCCAACAGGATGGCCAGT
Seq A exon
GTGCTCTGCAGCAGAGCTCGACTGGTGACGTACCTACCAGGGCTTCATGTTCTAGTTCATCGTGTTGTTGGAGCAAGAAGTTTCTCTGGGGCGTCAGGATCAGATGAGCCACACCTGAACACCTCAACTCCTGACATTG
Seq C2 exon
CACCAAGGACTGTGTGGCCGGATGAGAGCATGGGCCCATTTGGACCTCAGGATAAACGTTTCCAGTTGCCGGGTAATGTGGGTTTTGACTGTCATTTGGAGAGTCCAGTGGAGCAGAGAACCACTTCGGTCCATAGTGTGATGCCAGATGTGCTCACTGCTCAGTCCAACAACCAGAGACATGACTTCATCCTGGCCCAGTTCATCAATGAGCTTCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000005870-'2-3,'2-1,4-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.383 C2=0.452
Domain overlap (PFAM):
C1:
NO
A:
PF102294=DUF2246=PU(10.9=63.8)
C2:
PF102294=DUF2246=FE(38.1=100),PF106444=Misat_Tub_SegII=PU(21.8=32.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCGTAAACAAGAGAAGCCCA
R:
GCTCATTGATGAACTGGGCCA
Band lengths:
248-387
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]