HsaALTD1034373-2/2 @ hg38
Alternative 5'ss
Gene
ENSG00000168288 | MMADHC
Description
methylmalonic aciduria and homocystinuria, cblD type [Source:HGNC Symbol;Acc:HGNC:25221]
Coordinates
chr2:149569634-149571171:-
Coord C1 exon
chr2:149571085-149571171
Coord A exon
chr2:149571081-149571084
Coord C2 exon
chr2:149569634-149570168
Length
4 bp
Sequences
Splice sites
5' ss Seq
TGAGTAATT
5' ss Score
0.85
3' ss Seq
TTTCGTTTTTATTTCCTCAGTTT
3' ss Score
8.79
Exon sequences
Seq C1 exon
TTCATCAATGGTGCTAAGGAAATTTGCTATGCTCTTCGAGCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA
Seq A exon
GTGA
Seq C2 exon
TTTTTTGGACCATATACAAACAACACTCTTTTTGAAACTGATGAACGCTACCGACATTTAGGATTCTCTGTTGATGACCTTGGATGCTGTAAAGTGATTCGTCATAGTCTCTGGGGTACCCATGTAGTTGTAGGGAGTATCTTCACTAATGCAACACCAGACAGCCATATTATGAAGAAATTAAGTGGAAATTAGCAGAAATATCCATTCATTTGCTGTACTATTTGTATGTAATATTTGGGTTGATCTATAAACACTGTCAGACTAAAGTTTTTAAAATATATTTATTTCTAAGTATTTATTTCAGCATTTATGAATTTACAACATTGGCAAGTGATTTGGGATTTTAAAATTGCAAATGTTCATTTATTCATATCATTGAATACACGTTGAACACATCCACATTGTATAGGATGTGGTAATTAGCTTGTAACCAGGGTATGATCTGCTATTGTTATTTCTCCTCTTTATTGGAAAAAGGCCTCAGTTTTAATTATTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168288-23-30,24-30-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF102294=DUF2246=FE(10.1=100),PF133151=DUF4085=PD(12.6=48.3)
A:
NA
C2:
PF102294=DUF2246=PD(22.5=95.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGAGGGTTATTGGGCTGAC
R:
TGTCGGTAGCGTTCATCAGTT
Band lengths:
104-108
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains