HsaEX6015870 @ hg19
Exon Skipping
Gene
ENSG00000168288 | MMADHC
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:HGNC Symbol;Acc:25221]
Coordinates
chr2:150438641-150444330:-
Coord C1 exon
chr2:150444178-150444330
Coord A exon
chr2:150443603-150443663
Coord C2 exon
chr2:150438641-150438785
Length
61 bp
Sequences
Splice sites
3' ss Seq
TTTGTTGTGTTCTTTCCCAGAAA
3' ss Score
9.67
5' ss Seq
AATGTGAGT
5' ss Score
7.8
Exon sequences
Seq C1 exon
GCGCGTGCGCATCATCGTTTCGACGCGCTCGGAAGCAACTTCCTTTGCCTGCTCACCGCCAGCGTAGGTGCTACCACCGCTGCCGTCGCCGCCGCCATTTTGATGGCAGGAAGAGTCCGGTTCTGGGACAGCTGGAGACAGTGGTGGTGACTG
Seq A exon
AAATAACTTTACCAAAGGAAAGCTATTTTGCGAACTATCTTCTCCAGCGGAGATGGCCAAT
Seq C2 exon
GTGCTTTGTAACAGAGCCAGACTGGTTTCCTATCTCCCAGGATTTTGCTCTTTAGTTAAAAGGGTTGTCAATCCCAAAGCCTTTTCGACTGCAGGATCATCAGGTTCGGATGAGTCTCATGTGGCTGCTGCACCTCCAGATATAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168288-'1-6,'1-2,2-6=AN
Average complexity
A_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=0.265
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF102294=DUF2246=PU(11.6=65.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACTTCCTTTGCCTGCTCACC
R:
AGGAAACCAGTCTGGCTCTGT
Band lengths:
148-209
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)