HsaEX1023936 @ hg38
Exon Skipping
Gene
ENSG00000168288 | MMADHC
Description
methylmalonic aciduria and homocystinuria, cblD type [Source:HGNC Symbol;Acc:HGNC:25221]
Coordinates
chr2:149579431-149587149:-
Coord C1 exon
chr2:149587089-149587149
Coord A exon
chr2:149582127-149582271
Coord C2 exon
chr2:149579431-149579648
Length
145 bp
Sequences
Splice sites
3' ss Seq
TAATTTTGTGTCATTTCTAGGTG
3' ss Score
11.01
5' ss Seq
TATGTAAGT
5' ss Score
6.69
Exon sequences
Seq C1 exon
AAATAACTTTACCAAAGGAAAGCTATTTTGCGAACTATCTTCTCCAGCGGAGATGGCCAAT
Seq A exon
GTGCTTTGTAACAGAGCCAGACTGGTTTCCTATCTCCCAGGATTTTGCTCTTTAGTTAAAAGGGTTGTCAATCCCAAAGCCTTTTCGACTGCAGGATCATCAGGTTCGGATGAGTCTCATGTGGCTGCTGCACCTCCAGATATAT
Seq C2 exon
GCTCTCGAACAGTGTGGCCTGATGAAACTATGGGACCCTTTGGACCTCAAGATCAGAGGTTCCAGCTTCCTGGGAACATAGGTTTTGATTGTCACCTCAATGGGACTGCTTCACAGAAGAAAAGCCTGGTTCATAAAACTTTGCCTGATGTTCTAGCAGAACCTTTATCAAGTGAAAGACATGAGTTTGTGATGGCACAATATGTGAATGAATTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168288-'5-14,'5-8,10-14
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.229 C2=0.099
Domain overlap (PFAM):
C1:
NO
A:
PF102294=DUF2246=PU(11.6=65.3)
C2:
PF102294=DUF2246=FE(26.1=100),PF133151=DUF4085=PU(14.4=21.9)
Main Skipping Isoform:
ENST00000422782fB4342
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCAAAGGAAAGCTATTTTGCGA
R:
GTGCCATCACAAACTCATGTCT
Band lengths:
249-394
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains