HsaINT0103832 @ hg19
Intron Retention
Gene
ENSG00000168288 | MMADHC
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:HGNC Symbol;Acc:25221]
Coordinates
chr2:150443603-150444330:-
Coord C1 exon
chr2:150444178-150444330
Coord A exon
chr2:150443664-150444177
Coord C2 exon
chr2:150443603-150443663
Length
514 bp
Sequences
Splice sites
5' ss Seq
CTGGTACGG
5' ss Score
8.6
3' ss Seq
TTTGTTGTGTTCTTTCCCAGAAA
3' ss Score
9.67
Exon sequences
Seq C1 exon
GCGCGTGCGCATCATCGTTTCGACGCGCTCGGAAGCAACTTCCTTTGCCTGCTCACCGCCAGCGTAGGTGCTACCACCGCTGCCGTCGCCGCCGCCATTTTGATGGCAGGAAGAGTCCGGTTCTGGGACAGCTGGAGACAGTGGTGGTGACTG
Seq A exon
GTACGGATGGTTTCCGCCCATGTTAGCCCCTCCAAATTTGCCCGTGTTAGGGTTACAGCCCTCGGTATTGCCCGTATTTTCACTGGGTCCCTGTCGTTGTCCCCAGCCATCCTGTCCGTCTGTCTTTAGTCTCTTTTCTGCTTCCTCATCTTTCCGATCAGCCTGAAGCTTTGCTTGGAGCTGTTGTTACGCAGCCCCAACTTCTGTTAAAGCAGCCGCTTCGATCCTCTGGACTGAATTTTGGCCACCCAGCCCCCATTCCCCTCCCGGATCTGGTCCGAGTTGTTTTTCCGCGGCTGTAAACCGGAAGGGCTCTGAGCTGCACTGCCGGCTCCGGGCTGGGGGATCTGTGCCTGGCATGGGGGCGAGTTCTGGCCTCCTTAGGGTACGGGGAGAGCTTGGACTTTGGTCCTGACGTGGTGGACGACACACCTTCGAAGAGTGGACGTTACCTCAGTTGTCTGTTGTTAGAGTTTAATCGATCACTCGTCTGTTTTGTTGTGTTCTTTCCCAG
Seq C2 exon
AAATAACTTTACCAAAGGAAAGCTATTTTGCGAACTATCTTCTCCAGCGGAGATGGCCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168288-MMADHC:NM_015702:1
Average complexity
IR-S
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:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCGCATCATCGTTTCGAC
R:
ATTGGCCATCTCCGCTGGA
Band lengths:
210-724
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
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)